STRINGSTRING
HSPB11 HSPB11 RRN3 RRN3 SLC22A4 SLC22A4 CETP CETP SPAG7 SPAG7 PLA2G15 PLA2G15 PYCR3 PYCR3 CYP4F2 CYP4F2 SULT2A1 SULT2A1 CYP3A43 CYP3A43 GCK GCK ZPR1 ZPR1 UNC93A UNC93A AGXT2 AGXT2 UMPS UMPS APOB APOB ACADL ACADL SLC1A4 SLC1A4 APOA1 APOA1 ACADS ACADS FAAH FAAH SLC17A1 SLC17A1 GOT2 GOT2 SLC10A2 SLC10A2 IRF1 IRF1 MBOAT7 MBOAT7 ALDH1A2 ALDH1A2 DOCK7 DOCK7 PBX4 PBX4 CERS4 CERS4 NECTIN2 NECTIN2 APOE APOE F12 F12 ACY3 ACY3 DMGDH DMGDH BHMT2 BHMT2 SLCO1B1 SLCO1B1 FOLH1 FOLH1 MTNR1B MTNR1B NT5E NT5E NPL NPL KYAT3 KYAT3 CYP2C9 CYP2C9 HAL HAL SLC7A5 SLC7A5 SCARB1 SCARB1 LACTB LACTB PIK3R3 PIK3R3 MAU2 MAU2 ARPC1A ARPC1A ABCA7 ABCA7 BBOX1 BBOX1 DGCR8 DGCR8 SIAE SIAE SLC7A6OS SLC7A6OS TREH TREH DARS1 DARS1 AGA AGA FBXL20 FBXL20 KLKB1 KLKB1 GCKR GCKR SLC2A9 SLC2A9 ENPEP ENPEP MCCC1 MCCC1 CPT1A CPT1A GTF2H1 GTF2H1 HPS5 HPS5 L2HGDH L2HGDH DHX38 DHX38 SAT2 SAT2 CELSR2 CELSR2 NAT8 NAT8 ALDH1L1 ALDH1L1 ATP10D ATP10D UGT3A1 UGT3A1 BHMT BHMT PM20D2 PM20D2 PAOX PAOX MYRF MYRF FADS2 FADS2 SLC13A3 SLC13A3 ARID5B ARID5B SLC7A11 SLC7A11 C4orf33 C4orf33 ACAD8 ACAD8 TXNDC16 TXNDC16 GADL1 GADL1 DDAH1 DDAH1 CYP2C18 CYP2C18 NTAN1 NTAN1 MYO1E MYO1E SPPL3 SPPL3 WDR66 WDR66 ACE ACE ATP5MF ATP5MF CPSF4 CPSF4 PTCD1 PTCD1 PCYT1A PCYT1A SYCE2 SYCE2 DOCK6 DOCK6 NIPAL1 NIPAL1 PF4 PF4 SLC51A SLC51A POC1A POC1A LIPC LIPC NCAPH2 NCAPH2 NAT16 NAT16 MAJIN MAJIN UGT1A6 UGT1A6 PCSK9 PCSK9 MTCH2 MTCH2 PPID PPID UGT1A1 UGT1A1 PPDPFL PPDPFL KMT5B KMT5B SLCO1A2 SLCO1A2 MYL1 MYL1 MARCHF3 MARCHF3 PHYHD1 PHYHD1 GLS2 GLS2 CYP4A11 CYP4A11 RAB8B RAB8B MSRA MSRA SENP3 SENP3 CRAT CRAT D2HGDH D2HGDH SGF29 SGF29 RABGGTB RABGGTB MLXIPL MLXIPL TMEM86B TMEM86B FADS1 FADS1 BCAT2 BCAT2 UPB1 UPB1 PKD2L1 PKD2L1 TPRKB TPRKB CNDP2 CNDP2 ACSM2B ACSM2B AFMID AFMID CASP9 CASP9 RPS27L RPS27L SPRYD4 SPRYD4 SLC6A13 SLC6A13 UGT2B15 UGT2B15 USP1 USP1 UGT1A10 UGT1A10 UNC119B UNC119B CDC42BPG CDC42BPG CCDC38 CCDC38 ELOVL2 ELOVL2 UGT1A9 UGT1A9 GPAA1 GPAA1 GRK6 GRK6 TRIM4 TRIM4 JPT1 JPT1 SIAH1 SIAH1 IGF2R IGF2R ARG1 ARG1 PRODH PRODH TMEM229B TMEM229B SYNE2 SYNE2 REV3L REV3L RPE RPE HAO2 HAO2 COMT COMT TRIM58 TRIM58 KMO KMO GALNT2 GALNT2 SLC22A2 SLC22A2 SLC22A1 SLC22A1 ECHS1 ECHS1 THEM4 THEM4 LHPP LHPP SLC16A10 SLC16A10 SLC22A16 SLC22A16 DPYD DPYD PYROXD2 PYROXD2 ACADM ACADM CYP2C8 CYP2C8 CPT2 CPT2 SARDH SARDH CYP4B1 CYP4B1 PCIF1 PCIF1 ADA ADA CFAP157 CFAP157 UGT1A4 UGT1A4 UGT1A5 UGT1A5 UGT1A7 UGT1A7 UGT1A8 UGT1A8 PCDH15 PCDH15 TMEM268 TMEM268 ZNF618 ZNF618 CDA CDA DNAJC16 DNAJC16 PTER PTER SHBG SHBG IL33 IL33 HYKK HYKK TM6SF2 TM6SF2 PTPRN2 PTPRN2 DNAH17 DNAH17 DPEP1 DPEP1 LGMN LGMN STAMBP STAMBP SLC28A1 SLC28A1 DNAJA4 DNAJA4 SLC16A9 SLC16A9 PSPH PSPH PDXDC1 PDXDC1 GATM GATM SLC17A3 SLC17A3 CBS CBS SLC25A45 SLC25A45 ABCC1 ABCC1 GGT1-2 GGT1-2 ACY1 ACY1 A4GALT A4GALT GATAD2A GATAD2A FUT2 FUT2 TKT TKT ZNF655 ZNF655 TSTA3 TSTA3 PHF21A PHF21A KYAT1 KYAT1 ASRGL1 ASRGL1 ATP5MF-PTCD1 ATP5MF-PTCD1 CPS1 CPS1 SLC22A5 SLC22A5 TMEM235 TMEM235 DDC DDC TOMM40 TOMM40 AOC1 AOC1 TMEM64 TMEM64 ELP2 ELP2 PLTP PLTP UGT1A3 UGT1A3 PTRH1 PTRH1 ADH4 ADH4 ETFDH ETFDH TSPAN18 TSPAN18 NAALAD2 NAALAD2 CKAP5 CKAP5 MROH1 MROH1 CELF1 CELF1 HSPA8 HSPA8 HNF1A HNF1A P3R3URF-PIK3R3 P3R3URF-PIK3R3 PSMD9 PSMD9 ENSP00000441269 ENSP00000441269 TMEM258 TMEM258 SCO2 SCO2 APOA5 APOA5 LDHA LDHA DENND11 DENND11 PAH PAH ASPG ASPG LDLR LDLR SLC7A6 SLC7A6 PHLPP2 PHLPP2 ACSM2A ACSM2A PRKCSH PRKCSH GCDH GCDH ZNF101 ZNF101 NT5C3A NT5C3A PPM1K PPM1K TMC4 TMC4 GCH1 GCH1 ANGPTL8 ANGPTL8 OPLAH OPLAH TRIM49B TRIM49B PLCG2 PLCG2 ALMS1 ALMS1 NPRL3 NPRL3 ABHD14A-ACY1 ABHD14A-ACY1 ZFHX3 ZFHX3 PHGDH PHGDH SUCLA2 SUCLA2 ABCC4 ABCC4 SLC18A2 SLC18A2 ITGAM ITGAM PCMT1 PCMT1 ENOSF1 ENOSF1 ABCC2 ABCC2 LPL LPL ABCG2 ABCG2 MIP MIP IVD IVD MFSD4B MFSD4B
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HSPB11Intraflagellar transport protein 25 homolog; Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male ferti [...] (144 aa)
RRN3RNA polymerase I-specific transcription initiation factor RRN3; Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity). (651 aa)
SLC22A4Solute carrier family 22 member 4; Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET). (551 aa)
CETPCholesteryl ester transfer protein; Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL. Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination ; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. (493 aa)
SPAG7Sperm associated antigen 7. (227 aa)
PLA2G15Group XV phospholipase A2; Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso- phospholipid. Has high activity with 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) and 1,2- dioleoyl-sn-glycero-3-phosphocholine (DOPC), catalyzing the transfer of oleic acid to N-acetyl-sphingosine. Required for normal phospholipid degradation in alveolar and peritoneal macrophages and in spleen (By similarity). May have weak lysophospholipase activity. (412 aa)
PYCR3Pyrroline-5-carboxylate reductase 3; Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline. (286 aa)
CYP4F2Cytochrome P450 4F2; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, eicosanoids and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of long- and very long-chain fatty acids. Displays high omega-hydroxylase activity toward polyunsaturated fatty [...] (520 aa)
SULT2A1Bile salt sulfotransferase; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. (285 aa)
CYP3A43Cytochrome P450 3A43; Exhibits low testosterone 6-beta-hydroxylase activity; Belongs to the cytochrome P450 family. (504 aa)
GCKHexokinase-4; Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues. Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change it [...] (466 aa)
ZPR1Zinc finger protein ZPR1; Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death; Belongs to the ZPR1 family. (459 aa)
UNC93AUnc-93 homolog A. (457 aa)
AGXT2Alanine--glyoxylate aminotransferase 2, mitochondrial; Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. (514 aa)
UMPSOrotidine 5'-phosphate decarboxylase; Uridine monophosphate synthetase; In the C-terminal section; belongs to the OMP decarboxylase family. (480 aa)
APOBApolipoprotein B-100; Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B- 100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. (4563 aa)
ACADLLong-chain specific acyl-CoA dehydrogenase, mitochondrial; Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl- CoA (By similarity). Among the different mitochondrial acyl [...] (430 aa)
SLC1A4Neutral amino acid transporter A; Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. (532 aa)
APOA1Truncated apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. (267 aa)
ACADSShort-chain specific acyl-CoA dehydrogenase, mitochondrial; Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl- CoA (By similarity). Among the different mitochondrial ac [...] (412 aa)
FAAHFatty-acid amide hydrolase 1; Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. Belongs to the amidase family. (579 aa)
SLC17A1Sodium-dependent phosphate transport protein 1; Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney. (467 aa)
GOT2Aspartate aminotransferase, mitochondrial; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. (430 aa)
SLC10A2Ileal sodium/bile acid cotransporter; Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. (348 aa)
IRF1Interferon regulatory factor 1; Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target [...] (325 aa)
MBOAT7Lysophospholipid acyltransferase 7; Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1- acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2- diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain [...] (472 aa)
ALDH1A2Retinal dehydrogenase 2; Converts retinaldehyde to retinoic acid. Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal. Displays complete lack of activity with citral (By similarity). Belongs to the aldehyde dehydrogenase family. (518 aa)
DOCK7Dedicator of cytokinesis protein 7; Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization. As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton. Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells [...] (2131 aa)
PBX4Pre-B-cell leukemia transcription factor 4; PBX homeobox 4; Belongs to the TALE/PBX homeobox family. (374 aa)
CERS4Ceramide synthase 4; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor. (394 aa)
NECTIN2Nectin-2; Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive. Probable cell adhesion protein ; Belongs to the nectin family. (538 aa)
APOEApolipoprotein E; APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density [...] (317 aa)
F12Coagulation factor XIIa heavy chain; Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. (615 aa)
ACY3N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming); Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity); Belongs to the AspA/AstE family. Aspartoacylase subfamily. (319 aa)
DMGDHDimethylglycine dehydrogenase, mitochondrial; Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. (866 aa)
BHMT2S-methylmethionine--homocysteine S-methyltransferase BHMT2; Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. (363 aa)
SLCO1B1Solute carrier organic anion transporter family member 1B1; Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. Belongs to the organo anion transporter (TC 2.A.60) family. (691 aa)
FOLH1Glutamate carboxypeptidase 2; Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression. (750 aa)
MTNR1BMelatonin receptor type 1B; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. (362 aa)
NT5E5'-nucleotidase; Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities. (574 aa)
NPLN-acetylneuraminate lyase; Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity). (320 aa)
KYAT3Kynurenine--oxoglutarate transaminase 3; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L- (seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By sim [...] (454 aa)
CYP2C9Cytochrome P450 2C9; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulato [...] (490 aa)
HALHistidine ammonia-lyase. (657 aa)
SLC7A5Large neutral amino acids transporter small subunit 1; The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan. Functions as an amino acid exchanger. May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can med [...] (507 aa)
SCARB1Scavenger receptor class B member 1; Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity. Belongs to the CD36 family. (509 aa)
LACTBSerine beta-lactamase-like protein LACTB, mitochondrial; Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism. Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism. It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein. Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cell [...] (547 aa)
PIK3R3Phosphatidylinositol 3-kinase regulatory subunit gamma; Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1. (461 aa)
MAU2MAU2 chromatid cohesion factor homolog; Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin. Plays a role in sister chromatid cohesion and normal progression through prometaphase. (613 aa)
ARPC1AActin-related protein 2/3 complex subunit 1A; Probably functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the WD repeat ARPC1 family. (370 aa)
ABCA7Phospholipid-transporting ATPase ABCA7; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylserine over phosphatidylcholine. Plays a role in lipid homeostasis and macrophage- mediated phagocytosis. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocyte differentiation. Involved in lipid raft organization and CD1D [...] (2146 aa)
BBOX1Gamma-butyrobetaine dioxygenase; Catalyzes the formation of L-carnitine from gamma- butyrobetaine; Belongs to the gamma-BBH/TMLD family. (387 aa)
DGCR8Microprocessor complex subunit DGCR8; Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that [...] (773 aa)
SIAESialate O-acetylesterase; Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid. (523 aa)
SLC7A6OSProbable RNA polymerase II nuclear localization protein SLC7A6OS; Directs RNA polymerase II nuclear import. (309 aa)
TREHTrehalase; Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose. (583 aa)
DARS1Aspartate--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily. (501 aa)
AGAN(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. (346 aa)
FBXL20F-box/LRR-repeat protein 20; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity). (436 aa)
KLKB1Plasma kallikrein heavy chain; The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin; Belongs to the peptidase S1 family. Plasma kallikrein subfamily. (638 aa)
GCKRGlucokinase regulatory protein; Regulates glucokinase (GCK) by forming an inactive complex with this enzyme. Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm after a meal. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity. (625 aa)
SLC2A9Solute carrier family 2, facilitated glucose transporter member 9; Urate transporter, which may play a role in the urate reabsorption by proximal tubules. Does not transport glucose, fructose or galactose. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. (540 aa)
ENPEPGlutamyl aminopeptidase; Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II. (957 aa)
MCCC1Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. (725 aa)
CPT1ACarnitine O-palmitoyltransferase 1, liver isoform; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism. (773 aa)
GTF2H1General transcription factor IIH subunit 1; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] (548 aa)
HPS5Hermansky-Pudlak syndrome 5 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Belongs to the HPS5 family. (1129 aa)
L2HGDHL-2-hydroxyglutarate dehydrogenase, mitochondrial; L-2-hydroxyglutarate dehydrogenase; Belongs to the L2HGDH family. (463 aa)
DHX38Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16; Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome. (1227 aa)
SAT2Diamine acetyltransferase 2; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine > spermidine = spermine >> N(1)acetylspermine = putrescine. (170 aa)
CELSR2Cadherin EGF LAG seven-pass G-type receptor 2; Receptor that may have an important role in cell/cell signaling during nervous system formation; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. (2923 aa)
NAT8N-acetyltransferase 8; Acetylates the free alpha-amino group of cysteine S- conjugates to form mercapturic acids. This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins [...] (227 aa)
ALDH1L1Cytosolic 10-formyltetrahydrofolate dehydrogenase; Aldehyde dehydrogenase 1 family member L1; In the N-terminal section; belongs to the GART family. (912 aa)
ATP10DProbable phospholipid-transporting ATPase VD; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. (1426 aa)
UGT3A1UDP-glucuronosyltransferase 3A1; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity); Belongs to the UDP-glycosyltransferase family. (523 aa)
BHMTBetaine--homocysteine S-methyltransferase 1; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline. (406 aa)
PM20D2Peptidase M20 domain containing 2. (436 aa)
PAOXPeroxisomal N(1)-acetyl-spermine/spermidine oxidase; Flavoenzyme which catalyzes the oxidation of N(1)- acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)- acetylspermidine to putrescine. Substrate specificity: N(1)- acetylspermine = N(1)-acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. (511 aa)
MYRFMyelin regulatory factor, C-terminal; [Myelin regulatory factor]: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes. [Myelin regulatory factor, N-terminal]: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifi [...] (1151 aa)
FADS2Acyl-CoA 6-desaturase; Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively. Subsequently, in the biosynthetic pathway of HUFA [...] (444 aa)
SLC13A3Solute carrier family 13 member 3; High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate. The stoichiometry is probably 3 Na(+) for 1 divalent succinate. (602 aa)
ARID5BAT-rich interactive domain-containing protein 5B; Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride m [...] (1188 aa)
SLC7A11Cystine/glutamate transporter; Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. (501 aa)
C4orf33UPF0462 protein C4orf33; Chromosome 4 open reading frame 33. (199 aa)
ACAD8Isobutyryl-CoA dehydrogenase, mitochondrial; Isobutyryl-CoA dehydrogenase which catalyzes one of the steps of the valine catabolic pathway. To a lesser extent, is also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA. (415 aa)
TXNDC16Thioredoxin domain containing 16. (825 aa)
GADL1Acidic amino acid decarboxylase GADL1; May catalyze the decarboxylation of L-aspartate, 3-sulfino-L- alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate. (521 aa)
DDAH1N(G),N(G)-dimethylarginine dimethylaminohydrolase 1; Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)- monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. (285 aa)
CYP2C18Cytochrome P450 2C18; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. (490 aa)
NTAN1Protein N-terminal asparagine amidohydrolase; N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as spec [...] (310 aa)
MYO1EUnconventional myosin-Ie; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cyto [...] (1108 aa)
SPPL3Signal peptide peptidase-like 3; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries. Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1. Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furi [...] (384 aa)
WDR66Cilia- and flagella-associated protein 251; Involved in spermatozoa motility. May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). (1149 aa)
ACEAngiotensin-converting enzyme, soluble form; Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI- anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety; Belongs to the peptidase M2 family. (1306 aa)
ATP5MFATP synthase subunit f, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the centr [...] (94 aa)
CPSF4Cleavage and polyadenylation specificity factor subunit 4; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U). (269 aa)
PTCD1Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria- encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs; Belongs to the PTCD1 family. (700 aa)
PCYT1ACholine-phosphate cytidylyltransferase A; Controls phosphatidylcholine synthesis; Belongs to the cytidylyltransferase family. (367 aa)
SYCE2Synaptonemal complex central element protein 2; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity). Belongs to the SYCE family. (218 aa)
DOCK6Dedicator of cytokinesis protein 6; Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity). (2047 aa)
NIPAL1Magnesium transporter NIPA3; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). Belongs to the NIPA family. (410 aa)
PF4Platelet factor 4, short form; Released during platelet aggregation. Neutralizes the anticoagulant effect of heparin because it binds more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Chemotactic for neutrophils and monocytes. Inhibits endothelial cell proliferation, the short form is a more potent inhibitor than the longer form; Belongs to the intercrine alpha (chemokine CxC) family. (101 aa)
SLC51AOrganic solute transporter subunit alpha; Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. (340 aa)
POC1APOC1 centriolar protein homolog A; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation; Belongs to the WD repeat POC1 family. (407 aa)
LIPCHepatic triacylglycerol lipase; Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin. (499 aa)
NCAPH2Condensin-2 complex subunit H2; Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture. May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in [...] (606 aa)
NAT16Probable N-acetyltransferase 16; Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown. (369 aa)
MAJINMembrane anchored junction protein. (216 aa)
UGT1A6UDP-glucuronosyltransferase 1-6; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. (532 aa)
PCSK9Proprotein convertase subtilisin/kexin type 9; Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments. Acts via a non- proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes t [...] (692 aa)
MTCH2Mitochondrial carrier homolog 2; The substrate transported is not yet known. Induces mitochondrial depolarization; Belongs to the mitochondrial carrier (TC 2.A.29) family. (303 aa)
PPIDPeptidyl-prolyl cis-trans isomerase D; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Proposed to act as a co- chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone- receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor [...] (370 aa)
UGT1A1UDP-glucuronosyltransferase 1-1; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha- ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. Belongs to the UDP-glyc [...] (533 aa)
PPDPFLPancreatic progenitor cell differentiation and proliferation factor like. (84 aa)
KMT5BHistone-lysine N-methyltransferase KMT5B; Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity. In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, ther [...] (885 aa)
SLCO1A2Solute carrier organic anion transporter family member 1A2; Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin. (670 aa)
MYL1Myosin light chain 1/3, skeletal muscle isoform; Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function. (194 aa)
MARCHF3E3 ubiquitin-protein ligase MARCHF3; E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. (253 aa)
PHYHD1Phytanoyl-CoA dioxygenase domain-containing protein 1; Isoform 1 has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. Isoform 2 and isoform 3 probably lack enzyme activity. (297 aa)
GLS2Glutaminase liver isoform, mitochondrial; Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha- ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation. (602 aa)
CYP4A11Cytochrome P450 4A11; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of saturated and unsaturated fatty acids, the catalytic efficiency decreasing in the following order: dodecanoic > tetradecanoic > (9 [...] (519 aa)
RAB8BRas-related protein Rab-8B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity). (207 aa)
MSRAMitochondrial peptide methionine sulfoxide reductase; Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine. (235 aa)
SENP3Sentrin-specific protease 3; Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates. Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability. Deconjugates SUMO2 and SUMO3 from CDCA8. Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300. Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1. Plays a role in the regulation of sumoylation status of ZNF148 [...] (574 aa)
CRATCarnitine O-acetyltransferase; Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta- oxidation. May be specific for short chain fatty acids. (626 aa)
D2HGDHD-2-hydroxyglutarate dehydrogenase, mitochondrial; Catalyzes the oxidation of D-2-hydroxyglutarate to alpha- ketoglutarate. (521 aa)
SGF29SAGA-associated factor 29; Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. SGF29 specifically recognizes and binds methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me. Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival. (293 aa)
RABGGTBGeranylgeranyl transferase type-2 subunit beta; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit beta family. (331 aa)
MLXIPLCarbohydrate-responsive element-binding protein; Transcriptional repressor. Binds to the canonical and non- canonical E box sequences 5'-CACGTG-3' (By similarity). (852 aa)
TMEM86BLysoplasmalogenase; Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties; Belongs to the TMEM86 family. (226 aa)
FADS1Acyl-CoA (8-3)-desaturase; Isoform 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapent [...] (501 aa)
BCAT2Branched-chain-amino-acid aminotransferase, mitochondrial; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids. (392 aa)
UPB1Beta-ureidopropionase; Catalyzes a late step in pyrimidine degradation. Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide. Likewise, converts N-carbamoyl-beta- aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable). Belongs to the carbon-nitrogen hydrolase superfamily. BUP family. (384 aa)
PKD2L1Polycystic kidney disease 2-like 1 protein; Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+). Pore-forming subunit of a calcium- permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration. The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription. Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cell [...] (805 aa)
TPRKBEKC/KEOPS complex subunit TPRKB; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification. (214 aa)
CNDP2Cytosolic non-specific dipeptidase; Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly. Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation. Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells. Catalyzes the production of N-lactoyl-amino acids from lactate [...] (475 aa)
ACSM2BAcyl-coenzyme A synthetase ACSM2B, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate- containing xenobiotics, e.g. benzoate. (577 aa)
AFMIDKynurenine formamidase; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites. (308 aa)
CASP9Caspase-9 subunit p10; Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP); Belongs to the peptidase C14A family. (416 aa)
RPS27LRibosomal protein S27 like; Belongs to the eukaryotic ribosomal protein eS27 family. (84 aa)
SPRYD4SPRY domain containing 4. (207 aa)
SLC6A13Sodium- and chloride-dependent GABA transporter 2; Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport. (602 aa)
UGT2B15UDP-glucuronosyltransferase 2B15; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7- hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens; Belongs to the UDP-glycosyltransferase family. (530 aa)
USP1Ubiquitin carboxyl-terminal hydrolase 1; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. (785 aa)
UGT1A10UDP-glucuronosyltransferase 1-10; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. (530 aa)
UNC119BProtein unc-119 homolog B; Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. Belongs to the PDE6D/unc-119 family. (251 aa)
CDC42BPGSerine/threonine-protein kinase MRCK gamma; May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity). (1551 aa)
CCDC38Coiled-coil domain containing 38. (563 aa)
ELOVL2Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the productio [...] (296 aa)
UGT1A9UDP-glucuronosyltransferase 1-9; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. (530 aa)
GPAA1Glycosylphosphatidylinositol anchor attachment 1 protein; Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate. (621 aa)
GRK6G protein-coupled receptor kinase 6; Specifically phosphorylates the activated forms of G protein- coupled receptors. Such receptor phosphorylation initiates beta- arrestin-mediated receptor desensitization, internalization, and signaling events leading to their desensitization. Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (By similarity). Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor: LRP6 during Wnt signaling (in vitro). (576 aa)
TRIM4E3 ubiquitin-protein ligase TRIM4; E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor DDX58, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction; Belongs to the TRIM/RBCC family. (500 aa)
JPT1Jupiter microtubule associated homolog 1, N-terminally processed; Modulates negatively AKT-mediated GSK3B signaling. Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions. Plays a role in the regulation of cell cycle and cell adhesion. Has an inhibitory role on AR-signaling pathway through the induction of receptor proteosomal degradation. Belongs to the JUPITER family. (181 aa)
SIAH1E3 ubiquitin-protein ligase SIAH1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin- mediated degradation of many substrates, including proteins involved in transcription [...] (313 aa)
IGF2RCation-independent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4. (2491 aa)
ARG1Arginase-1; Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. Belongs to the arginase family. (330 aa)
PRODHProline dehydrogenase; Converts proline to delta-1-pyrroline-5-carboxylate. (600 aa)
TMEM229BTransmembrane protein 229B. (167 aa)
SYNE2Nesprin-2; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane acti [...] (6907 aa)
REV3LDNA polymerase zeta catalytic subunit; Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function. (3130 aa)
RPERibulose-phosphate 3-epimerase; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate. (228 aa)
HAO2Hydroxyacid oxidase 2; Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids; Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family. (364 aa)
COMTCatechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol; Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family. (271 aa)
TRIM58E3 ubiquitin-protein ligase TRIM58; E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization. (486 aa)
KMOKynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable). (486 aa)
GALNT2Polypeptide N-acetylgalactosaminyltransferase 2 soluble form; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. (571 aa)
SLC22A2Solute carrier family 22 member 2; Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamine, creatinine, amantadine, memantine, acriflavine, 4-[4- (dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as [...] (555 aa)
SLC22A1Solute carrier family 22 member 1; Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1- methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1- methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N- methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA recepto [...] (554 aa)
ECHS1Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate; Belongs to the enoyl-CoA hydratase/isomerase family. (290 aa)
THEM4Acyl-coenzyme A thioesterase THEM4; Has acyl-CoA thioesterase activity towards medium and long- chain (C14 to C18) fatty acyl-CoA substrates, and probably plays a role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to inhibits AKT1 phosphorylation and activity. According to enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane. (240 aa)
LHPPPhospholysine phosphohistidine inorganic pyrophosphate phosphatase; Phosphatase that hydrolyzes imidodiphosphate, 3- phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity); Belongs to the HAD-like hydrolase superfamily. (270 aa)
SLC16A10Monocarboxylate transporter 10; Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. (515 aa)
SLC22A16Solute carrier family 22 member 16; High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. (577 aa)
DPYDDihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil; Belongs to the dihydropyrimidine dehydrogenase family. (1025 aa)
PYROXD2Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2; Probable oxidoreductase; Belongs to the carotenoid/retinoid oxidoreductase family. (581 aa)
ACADMMedium-chain specific acyl-CoA dehydrogenase, mitochondrial; Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). (454 aa)
CYP2C8Cytochrome P450 2C8; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond. Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabol [...] (490 aa)
CPT2Carnitine O-palmitoyltransferase 2, mitochondrial; Carnitine palmitoyltransferase 2. (658 aa)
SARDHSarcosine dehydrogenase, mitochondrial; Sarcosine dehydrogenase; Belongs to the GcvT family. (918 aa)
CYP4B1Cytochrome P450 4B1; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. (512 aa)
PCIF1mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase; Cap-specific adenosine methyltransferase that catalyzes formation of N(6),2'-O-dimethyladenosine cap (m6A(m)) by methylating the adenosine at the second transcribed position of capped mRNAs. Recruited to the early elongation complex of RNA polymerase II (RNAPII) via interaction with POLR2A and mediates formation of m6A(m) co- transcriptionally. (704 aa)
ADAAdenosine deaminase; Catalyzes the hydrolytic deamination of adenosine and 2- deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion. Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T [...] (363 aa)
CFAP157Cilia- and flagella-associated protein 157; Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure; Belongs to the CFAP157 family. (520 aa)
UGT1A4UDP-glucuronosyltransferase 1-4; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. (534 aa)
UGT1A5UDP-glucuronosyltransferase 1-5; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. (534 aa)
UGT1A7UDP-glucuronosyltransferase 1-7; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1; Belongs to the UDP-glycosyltransferase family. (530 aa)
UGT1A8UDP-glucuronosyltransferase 1-8; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. (530 aa)
PCDH15Protocadherin-15; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. (1962 aa)
TMEM268Transmembrane protein 268. (343 aa)
ZNF618Zinc finger protein 618; May be involved in transcriptional regulation. (954 aa)
CDACytidine deaminase; This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis. (146 aa)
DNAJC16DnaJ heat shock protein family member C16. (782 aa)
PTERPhosphotriesterase-related protein; Phosphotriesterase related; Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family. (349 aa)
SHBGSex hormone-binding globulin; Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration. (402 aa)
IL33Interleukin-33 (109-270); Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury. Belongs to the IL-1 family. Highly divergent. (270 aa)
HYKKHydroxylysine kinase; Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L- lysine. (373 aa)
TM6SF2Transmembrane 6 superfamily member 2; Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase. Belongs to the TM6SF family. (377 aa)
PTPRN2Receptor-type tyrosine-protein phosphatase N2; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones [...] (1015 aa)
DNAH17Dynein heavy chain 17, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). (4462 aa)
DPEP1Dipeptidase 1; Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity. (411 aa)
LGMNLegumain; Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system; Belongs to the peptidase C13 family. (433 aa)
STAMBPSTAM-binding protein; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM- CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR deg [...] (424 aa)
SLC28A1Sodium/nucleoside cotransporter 1; Sodium-dependent and pyrimidine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). Transports uridine, cytidine, thymidine, and nucleoside-derived drugs. Transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS) [...] (649 aa)
DNAJA4DnaJ heat shock protein family member A4. (426 aa)
SLC16A9Monocarboxylate transporter 9; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. (509 aa)
PSPHPhosphoserine phosphatase; Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates; Belongs to the HAD-like hydrolase superfamily. SerB family. (225 aa)
PDXDC1Pyridoxal-dependent decarboxylase domain-containing protein 1; Pyridoxal dependent decarboxylase domain containing 1; Belongs to the group II decarboxylase family. (788 aa)
GATMGlycine amidinotransferase, mitochondrial; Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis; Belongs to the amidinotransferase family. (423 aa)
SLC17A3Sodium-dependent phosphate transport protein 4; [Isoform 2]: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. (498 aa)
CBSCystathionine beta-synthase-like protein; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L- homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons. (551 aa)
SLC25A45Solute carrier family 25 member 45; Belongs to the mitochondrial carrier (TC 2.A.29) family. (288 aa)
ABCC1Multidrug resistance-associated protein 1; Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17- beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs by decreasing accumulation of drug in cells, and by mediating ATP- and GSH-dependent drug export. Hydrolyzes ATP with low efficiency. Catalyzes the export of sphingosine 1-phosphate from mast cells independently of their degranulation. Participates in inflammatory re [...] (1531 aa)
GGT1-2Gamma-glutamyltransferase 1. (569 aa)
ACY1Aminoacylase-1; Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate); Belongs to the peptidase M20A family. (408 aa)
A4GALTLactosylceramide 4-alpha-galactosyltransferase; Catalyzes the transfer of galactose from UDP-alpha-D- galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer. Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Ce [...] (353 aa)
GATAD2ATranscriptional repressor p66-alpha; Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2B. (634 aa)
FUT2Galactoside 2-alpha-L-fucosyltransferase 2; Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids. The resulting epitope plays a role in cell-cell interaction including host-microbe interaction. Mediates interaction with intestinal microbiota influencing its composition. Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway. (343 aa)
TKTTransketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate; Belongs to the transketolase family. (631 aa)
ZNF655Zinc finger protein 655; May be involved in transcriptional regulation. (526 aa)
TSTA3GDP-L-fucose synthase; Catalyzes the two-step NADP-dependent conversion of GDP-4- dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction. (321 aa)
PHF21APHD finger protein 21A; Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation. (680 aa)
KYAT1Kynurenine--oxoglutarate transaminase 1; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond. (516 aa)
ASRGL1Isoaspartyl peptidase/L-asparaginase alpha chain; Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp- L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, [...] (308 aa)
ATP5MF-PTCD1ATP5MF-PTCD1 readthrough. (749 aa)
CPS1Carbamoyl-phosphate synthase [ammonia], mitochondrial; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. (1506 aa)
SLC22A5Solute carrier family 22 member 5; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. (581 aa)
TMEM235Transmembrane protein 235; Belongs to the PMP-22/EMP/MP20 family. (223 aa)
DDCAromatic-L-amino-acid decarboxylase; Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine; Belongs to the group II decarboxylase family. (480 aa)
TOMM40Mitochondrial import receptor subunit TOM40 homolog; Channel-forming protein essential for import of protein precursors into mitochondria; Belongs to the Tom40 family. (361 aa)
AOC1Amiloride-sensitive amine oxidase [copper-containing]; Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function; Belongs to the copper/topaquinone oxidase family. (770 aa)
TMEM64Transmembrane protein 64; Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates [...] (380 aa)
ELP2Elongator complex protein 2; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. (891 aa)
PLTPPhospholipid transfer protein; Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that [...] (493 aa)
UGT1A3UDP-glucuronosyltransferase 1-3; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. (534 aa)
PTRH1peptidyl-tRNA hydrolase 1 homolog; Belongs to the PTH family. (214 aa)
ADH4All-trans-retinol dehydrogenase [NAD(+)] ADH4; Catalyzes the NAD-dependent oxidation of either all-trans- retinol or 9-cis-retinol. Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate. Also catalyzes the reduction of benzoquinones. (399 aa)
ETFDHElectron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Accepts electrons from ETF and reduces ubiquinone; Belongs to the ETF-QO/FixC family. (617 aa)
TSPAN18Tetraspanin-18; Tetraspanin 18. (248 aa)
NAALAD2N-acetylated-alpha-linked acidic dipeptidase 2; Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivates the peptide neurotransmitter N-acetylaspartylglutamate. (740 aa)
CKAP5Cytoskeleton-associated protein 5; Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stab [...] (2032 aa)
MROH1Maestro heat like repeat family member 1. (1641 aa)
CELF1CUGBP Elav-like family member 1; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon bu [...] (514 aa)
HSPA8Heat shock cognate 71 kDa protein; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis a [...] (646 aa)
HNF1AHepatocyte nuclear factor 1-alpha; Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'- GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity). (638 aa)
P3R3URF-PIK3R3Uncharacterized protein. (507 aa)
PSMD926S proteasome non-ATPase regulatory subunit 9; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process. (223 aa)
ENSP00000441269Solute carrier organic anion transporter family member; SLCO1B3-SLCO1B7 readthrough. (748 aa)
TMEM258Transmembrane protein 258; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are requ [...] (79 aa)
SCO2Protein SCO2 homolog, mitochondrial; Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2. Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2. (266 aa)
APOA5Apolipoprotein A-V; Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin. (366 aa)
LDHALactate dehydrogenase A; Belongs to the LDH/MDH superfamily. LDH family. (361 aa)
DENND11DENN domain-containing protein 11; Probable guanine nucleotide exchange factor (GEF). May promote the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (Probable). May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia (By similarity). (455 aa)
PAHPhenylalanine-4-hydroxylase; Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. (452 aa)
ASPG1-alkyl-2-acetylglycerophosphocholine esterase; Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities (By similarity). Can catalyze three types of transacylation reactions: (1) acyl transfer from 1-acyl-sn-glycero- 3-phosphocholine (1-acyl-GPC) to the sn-1(3) positions of glycerol and 2-acylglycerol (sn-1 to -1(3) transfer), (2) acyl transfer from 1-acyl- GPC to the sn-2 positions of 1-acyl-GPC, 1-acyl-sn-glycero-3- phosphoethanolamine (1-acyl-GPE), and other lysophospholipids (sn-1 to -2 transfer) and (3) acyl transfer from 2-acyl-GPC to the sn-1 po [...] (573 aa)
LDLRLow-density lipoprotein receptor; Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. (Microbial infection) Acts as a receptor for Vesicular stomatitis virus; Belongs to the LDLR family. (860 aa)
SLC7A6Y+L amino acid transporter 2; Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in mono [...] (515 aa)
PHLPP2PH domain leucine-rich repeat-containing protein phosphatase 2; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apopto [...] (1323 aa)
ACSM2AAcyl-coenzyme A synthetase ACSM2A, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family. (577 aa)
PRKCSHGlucosidase 2 subunit beta; Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity). (535 aa)
GCDHGlutaryl-CoA dehydrogenase, mitochondrial; Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L- hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. Belongs to the acyl-CoA dehydrogenase family. (438 aa)
ZNF101Zinc finger protein 101; May be involved in transcriptional regulation. (436 aa)
NT5C3ACytosolic 5'-nucleotidase 3A; Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate ; Belongs to the pyrimidine 5'-nucleotidase family. (331 aa)
PPM1KProtein phosphatase 1K, mitochondrial; Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development. (372 aa)
TMC4Transmembrane channel-like protein 4; Probable ion channel. (712 aa)
GCH1GTP cyclohydrolase 1; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. Belongs to the GTP cyclohydrolase I family. (250 aa)
ANGPTL8Angiopoietin-like protein 8; Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels. May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity). Belongs to the ANGPTL8 family. (198 aa)
OPLAH5-oxoprolinase; Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate; Belongs to the oxoprolinase family. (1288 aa)
TRIM49BPutative tripartite motif-containing protein 49B; Tripartite motif containing 49B; Belongs to the TRIM/RBCC family. (452 aa)
PLCG21-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling. (1265 aa)
ALMS1Alstrom syndrome protein 1; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells. (4168 aa)
NPRL3GATOR complex protein NPRL3; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway. (569 aa)
ABHD14A-ACY1ABHD14A-ACY1 readthrough. (586 aa)
ZFHX3Zinc finger homeobox protein 3; Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP via its interaction with SMAD2/3. Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain (By similarity). Regulator of myoblasts differentiation throug [...] (3703 aa)
PHGDHD-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L- serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. (533 aa)
SUCLA2Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity). (463 aa)
ABCC4Multidrug resistance-associated protein 4; May be an organic anion pump relevant to cellular detoxification; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. (1325 aa)
SLC18A2Synaptic vesicular amine transporter; Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis. (514 aa)
ITGAMIntegrin alpha-M; Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens. It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration. In association with beta subunit ITGB2/CD18, required for CD177-PRTN [...] (1153 aa)
PCMT1Protein-L-isoaspartate(D-aspartate) O-methyltransferase; Catalyzes the methyl esterification of L-isoaspartyl and D- aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein. (286 aa)
ENOSF1Mitochondrial enolase superfamily member 1; Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion. (443 aa)
ABCC2Canalicular multispecific organic anion transporter 1; Mediates hepatobiliary excretion of numerous organic anions and conjugated organic anions such as methotrexate, 17beta-estradiol 17-glucosiduronic acid and leukotriene C4. Also transports sulfated bile salt such as taurolithocholate sulfate. May function as a cellular cisplatin transporter. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. (1545 aa)
LPLLipoprotein lipase; Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage. Mediates margination of triglyceride-rich lipoprotein particles in capillaries. Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans. (475 aa)
ABCG2Broad substrate specificity ATP-binding cassette transporter ABCG2; Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells. Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme. Also mediates the efflux of sphingosine-1-P from cells. Acts as a urate exporter functioning in both renal and extra [...] (655 aa)
MIPLens fiber major intrinsic protein; Water channel. Channel activity is down- regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell- to-cell adhesion and facilitates gap junction coupling ; Belongs to the MIP/aquaporin (TC 1.A.8) family. (263 aa)
IVDIsovaleryl-CoA dehydrogenase, mitochondrial; isovaleryl-CoA dehydrogenase. (426 aa)
MFSD4BSodium-dependent glucose transporter 1; May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney. Belongs to the major facilitator superfamily. (518 aa)
Your Current Organism:
Homo sapiens
NCBI taxonomy Id: 9606
Other names: H. sapiens, human, man
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