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| | USP28 | Ubiquitin carboxyl-terminal hydrolase 28; Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically intera [...] (1077 aa) |
| | PROCR | Endothelial protein C receptor; Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation. (238 aa) |
| | MACROD2 | ADP-ribose glycohydrolase MACROD2; Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. (425 aa) |
| | ACTA2 | Actin, aortic smooth muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. (377 aa) |
| | RERGL | Ras-related and estrogen-regulated growth inhibitor-like protein; Binds GDP/GTP and may possess intrinsic GTPase activity. (205 aa) |
| | LOX | Protein-lysine 6-oxidase, short form; Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity); Belongs to the lysyl oxidase family. (417 aa) |
| | GDA | Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family. (471 aa) |
| | TGFB3 | Transforming growth factor beta-3 proprotein; Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi appa [...] (412 aa) |
| | MTX2 | Metaxin-2; Involved in transport of proteins into the mitochondrion. (263 aa) |
| | ALDH1A2 | Retinal 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) |
| | SLC14A2 | Urea transporter 2; Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. (920 aa) |
| | RNF17 | RING finger protein 17; Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad-MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity). (1623 aa) |
| | SLCO1B1 | Solute 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) |
| | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-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. (1185 aa) |
| | ALDH2 | Aldehyde dehydrogenase, mitochondrial; Aldehyde dehydrogenase 2 family member; Belongs to the aldehyde dehydrogenase family. (517 aa) |
| | SMAD2 | Mothers against decapentaplegic homolog 2; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. (467 aa) |
| | VIPR2 | Vasoactive intestinal polypeptide receptor 2; This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C. (438 aa) |
| | CDKN2C | Cyclin-dependent kinase 4 inhibitor C; Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. (168 aa) |
| | NOTCH3 | Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). (2321 aa) |
| | KAT2B | Histone acetyltransferase KAT2B; Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non- histone proteins, such as ACLY, PLK4, RRP9/U3-55K and TBX5. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 h [...] (832 aa) |
| | CDK6 | Cyclin-dependent kinase 6; Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cel [...] (326 aa) |
| | PIK3C2A | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion dow [...] (1686 aa) |
| | SRRM4 | Serine/arginine repetitive matrix protein 4; Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural- specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural- specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity). Promotes alternative splicing of REST transcripts to pr [...] (611 aa) |
| | NDUFS6 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. (124 aa) |
| | VWDE | Von Willebrand factor D and EGF domains. (1590 aa) |
| | CCDC83 | Coiled-coil domain containing 83. (444 aa) |
| | EPG5 | Ectopic P granules protein 5 homolog; Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located. (2579 aa) |
| | KCNMA1 | Calcium-activated potassium channel subunit alpha-1; Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in t [...] (1236 aa) |
| | ADAMTS3 | A disintegrin and metalloproteinase with thrombospondin motifs 3; Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens. (1205 aa) |
| | ADAMTSL3 | ADAMTS-like protein 3; ADAMTS like 3. (1691 aa) |
| | NRG1 | Pro-neuregulin-1, membrane-bound isoform; Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gla [...] (645 aa) |
| | PGLYRP3 | Peptidoglycan recognition protein 3; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity; Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. (341 aa) |
| | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A; Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP. Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart. Additional experiments are required to confirm whether its abi [...] (593 aa) |
| | TMOD4 | Tropomodulin-4; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. (345 aa) |
| | COL6A3 | Collagen alpha-3(VI) chain; Collagen VI acts as a cell-binding protein. (3177 aa) |
| | GUCY1A1 | Guanylate cyclase 1 soluble subunit alpha 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. (690 aa) |
| | TMEM74 | Transmembrane protein 74; Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction. Belongs to the TMEM74 family. (305 aa) |
| | COL14A1 | Collagen alpha-1(XIV) chain; Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity). (1796 aa) |
| | ULK4 | Serine/threonine-protein kinase ULK4; May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility. (1275 aa) |
| | VAT1L | Synaptic vesicle membrane protein VAT-1 homolog-like; Vesicle amine transport 1 like; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. (419 aa) |
| | KCNK3 | Potassium channel subfamily K member 3; pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. (394 aa) |
| | CXCL8 | Interleukin-8; IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively. (99 aa) |
| | RPTOR | Regulatory-associated protein of mTOR; Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1- TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTO [...] (1335 aa) |
| | F2 | Activation peptide fragment 1; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing; Belongs to the peptidase S1 family. (622 aa) |
| | ZFAND2A | Zinc finger AN1-type containing 2A. (145 aa) |
| | CRLF3 | Cytokine receptor-like factor 3; May play a role in the negative regulation of cell cycle progression. (442 aa) |
| | ZNF77 | Zinc finger protein 77; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. (545 aa) |
| | CHORDC1 | Cysteine and histidine-rich domain-containing protein 1; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis. (332 aa) |
| | OSBPL1A | Oxysterol-binding protein-related protein 1; Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A. Binds 25-hydroxycholesterol and cholesterol ; Belongs to the OSBP family. (950 aa) |
| | FBN1 | Fibrillin-1; [Fibrillin-1]: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus [...] (2871 aa) |
| | EIF4A2 | Eukaryotic initiation factor 4A-II; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon; Belongs to the DEAD box helicase family. eIF4A subfamily. (407 aa) |
| | VPS33B | Vacuolar protein sorting-associated protein 33B; May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity. Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesic [...] (617 aa) |
| | SCN5A | Sodium channel protein type 5 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels. Belongs to the sodium chann [...] (2016 aa) |
| | OPCML | Opioid-binding protein/cell adhesion molecule; Binds opioids in the presence of acidic lipids; probably involved in cell contact; Belongs to the immunoglobulin superfamily. IgLON family. (345 aa) |
| | SMAD3 | Mothers against decapentaplegic homolog 3; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP- 1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and m [...] (425 aa) |
| | SLC36A2 | Proton-coupled amino acid transporter 2; Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity); Belongs to the amino acid/polyamine transporter 2 family. (483 aa) |
| | FOXE3 | Forkhead box protein E3; Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle. During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye. (319 aa) |
| | BCL9L | B-cell CLL/lymphoma 9-like protein; Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity); Belongs to the BCL9 family. (1499 aa) |
| | TRAPPC11 | Trafficking protein particle complex subunit 11; Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. (1133 aa) |
| | SMAD4 | Mothers against decapentaplegic homolog 4; In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac- specific gene expression. Binds to SMAD binding elements (SBEs) (5'- GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By [...] (552 aa) |
| | AGMO | Alkylglycerol monooxygenase; Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes. (445 aa) |
| | SMARCA4 | Transcription activator BRG1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium- dependent release of a repressor complex and the recruitment of an activator complex. In resting ne [...] (1647 aa) |
| | AUTS2 | Autism susceptibility gene 2 protein; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RN [...] (1259 aa) |
| | FGD6 | FYVE, RhoGEF and PH domain-containing protein 6; May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity). (1430 aa) |
| | SH2B3 | SH2B adapter protein 3; Links T-cell receptor activation signal to phospholipase C- gamma-1, GRB2 and phosphatidylinositol 3-kinase. (575 aa) |
| | SH3PXD2A | SH3 and PX domain-containing protein 2A; Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide. Belongs to the SH3PXD2 family. (1105 aa) |
| | SON | Protein SON; RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core prom [...] (2426 aa) |
| | SMARCAL1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks. (954 aa) |
| | FXR1 | Fragile X mental retardation syndrome-related protein 1; RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity); Belongs to the FMR1 family. (621 aa) |
| | GRM7 | Metabotropic glutamate receptor 7; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. (915 aa) |
| | C8orf86 | Uncharacterized protein C8orf86; Chromosome 8 open reading frame 86. (223 aa) |
| | TMEM126B | Complex I assembly factor TMEM126B, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. Belongs to the TMEM126 family. (230 aa) |
| | TGFBR2 | TGF-beta receptor type-2; Transmembrane serine/threonine kinase forming with the TGF- beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinoge [...] (592 aa) |
| | PDE3A | cGMP-inhibited 3',5'-cyclic phosphodiesterase A; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. (1141 aa) |
| | SLC2A10 | Solute carrier family 2, facilitated glucose transporter member 10; Facilitative glucose transporter required for the development of the cardiovascular system; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. (541 aa) |
| | MFAP5 | Microfibrillar-associated protein 5; May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils. (173 aa) |
| | MYLK | Myosin light chain kinase, smooth muscle, deglutamylated form; Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessa [...] (1914 aa) |
| | FUT8 | Alpha-(1,6)-fucosyltransferase; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans. Belongs to the glycosyltransferase 23 family. (575 aa) |
| | HTR4 | 5-hydroxytryptamine receptor 4; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. (428 aa) |
| | ASTN2 | Astrotactin-2; Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5- bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5- tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup. (1288 aa) |
| | NPY1R | Neuropeptide Y receptor type 1; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is NPY > [Pro-34] PYY, PYY and [Leu-31, Pro-34] NPY > NPY (2-36) > [Ile-31, Gln-34] PP and PYY (3-36) > PP > NPY free acid. (384 aa) |
| | SLC26A11 | Sodium-independent sulfate anion transporter; Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). (606 aa) |
| | TGFB2 | Transforming growth factor beta-2 proprotein; Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development. Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth fact [...] (442 aa) |
| | TNR | Tenascin-R; Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repuls [...] (1358 aa) |
| | F5 | Coagulation factor V heavy chain; Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin. (2224 aa) |
| | PMF1 | Polyamine-modulated factor 1; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT. (207 aa) |
| | LMNA | Prelamin-A/C; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. A [...] (664 aa) |
| | HEY2 | Hairy/enhancer-of-split related with YRPW motif protein 2; Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6; Belongs to the HEY family. (337 aa) |
| | FUNDC2 | FUN14 domain containing 2; Belongs to the FUN14 family. (189 aa) |
| | WNT2B | Protein Wnt-2b; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development. (391 aa) |
| | ZNHIT6 | Box C/D snoRNA protein 1; Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. Belongs to the BCD1 family. (470 aa) |
| | CRTAC1 | Cartilage acidic protein 1. (661 aa) |
| | NFIA | Nuclear factor 1 A-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. (554 aa) |
| | LEXM | Lymphocyte expansion molecule. (418 aa) |
| | CDC5L | Cell division cycle 5-like protein; DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR). (802 aa) |
| | FOXP4 | Forkhead box protein P4; Transcriptional repressor that represses lung-specific expression. (680 aa) |
| | PTPRT | Receptor-type tyrosine-protein phosphatase T; May be involved in both signal transduction and cellular adhesion in the CNS; Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. (1460 aa) |
| | ENG | Endoglin; Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis. Required for normal structure and integrity of adult vasculature. Regulates the migration of vascular endothelial cells. Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins [...] (658 aa) |
| | TSPAN15 | Tetraspanin-15; Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Promotes ADAM10-mediated cleavage of CDH2 (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity ; Belongs to the tetraspanin (TM4SF) family. (294 aa) |
| | PRKG1 | cGMP-dependent protein kinase 1; Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-s [...] (686 aa) |
| | COL4A1 | Collagen alpha-1(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. (1669 aa) |
| | KAZN | Kazrin; Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. (775 aa) |
| | NPPA | Atrial natriuretic factor; Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. (151 aa) |
| | MTHFR | Methylenetetrahydrofolate reductase; Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. (697 aa) |
| | CASZ1 | Zinc finger protein castor homolog 1; Transcriptional activator. Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7. (1759 aa) |
| | AJAP1 | Adherens junction-associated protein 1; Plays a role in cell adhesion and cell migration. (411 aa) |
| | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; 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. This form has a role in retina signal transduction. (1194 aa) |
| | MORN1 | MORN repeat containing 1. (497 aa) |
| | PRKCZ | Protein kinase C zeta type; Calcium- and diacylglycerol-independent serine/threonine- protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Req [...] (592 aa) |
| | COX7A2L | Cytochrome c oxidase subunit 7A-related protein, mitochondrial; Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity). Belongs to the cytochrome c oxidase VIIa family. (114 aa) |
| | GDI2 | Rab GDP dissociation inhibitor beta; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. (445 aa) |
| | CHD3 | Chromodomain-helicase-DNA-binding protein 3; Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity. (2059 aa) |
| | NYNRIN | Protein NYNRIN; NYN domain and retroviral integrase containing. (1898 aa) |
| | ACVRL1 | Serine/threonine-protein kinase receptor R3; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. (503 aa) |
| | LRCH1 | Leucine-rich repeat and calponin homology domain-containing protein 1; Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration. (763 aa) |
| | NLRP5 | NACHT, LRR and PYD domains-containing protein 5; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the NLRP family. (1200 aa) |
| | PICALM | Phosphatidylinositol-binding clathrin assembly protein; Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly. Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. In addition to binding to clathrin, mediates the endocyto [...] (652 aa) |
| | FAF1 | FAS-associated factor 1; Ubiquitin-binding protein. Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation. Potentiates but cannot initiate FAS-induced apoptosis (By similarity). (650 aa) |
| | MYH11 | Myosin-11; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1979 aa) |
| | HPS4 | Hermansky-Pudlak syndrome 4 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38. (708 aa) |
| | NSF | Vesicle-fusing ATPase; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family. (744 aa) |
| | ABCC1 | Multidrug 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) |
| | ADA2 | Adenosine deaminase 2; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. (511 aa) |
| | NCAM2 | Neural cell adhesion molecule 2; May play important roles in selective fasciculation and zone- to-zone projection of the primary olfactory axons. (837 aa) |
| | CDKN1A | Cyclin-dependent kinase inhibitor 1; May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin- dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D- CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 [...] (164 aa) |
| | KCNS3 | Potassium voltage-gated channel subfamily S member 3; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1. Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). (491 aa) |
| | XKR9 | XK-related protein 9; XK related 9. (373 aa) |
| | SOX5 | Transcription factor SOX-5; Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro. (763 aa) |
| | CADPS2 | Calcium-dependent secretion activator 2; Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). (1296 aa) |
| | ILF3 | Interleukin enhancer-binding factor 3; RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back- splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs. As a consequence, participates in a wide range of transcriptional and post- transcriptional processes. Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of tar [...] (898 aa) |
| | CNTN6 | Contactin-6; Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity); Belongs to the immunoglobulin superfamily. Contactin family. (1028 aa) |
| | TMEM132D | Transmembrane protein 132D; May serve as a cell-surface marker for oligodendrocyte differentiation. (1099 aa) |
| | HDAC9 | Histone deacetylase 9; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription; Belongs to the histone deacetylase family. HD type 2 subfamily. (1069 aa) |
| | AGBL1 | Cytosolic carboxypeptidase 4; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. (1112 aa) |
| | KIAA1324L | UPF0577 protein KIAA1324-like; Belongs to the UPF0577 family. (1029 aa) |
| | PTPRG | Receptor-type tyrosine-protein phosphatase gamma; Possesses tyrosine phosphatase activity. (1445 aa) |
| | ADGRL3 | Adhesion G protein-coupled receptor L3; Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells. Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. (1469 aa) |
| | MARCHF1 | E3 ubiquitin-protein ligase MARCHF1; E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system. (289 aa) |
| | USP36 | Ubiquitin carboxyl-terminal hydrolase 36; Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability. Functions as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4). Specifically deubiq [...] (1123 aa) |
| | PCDH7 | Protocadherin-7; Protocadherin 7. (1072 aa) |
| | PIK3C2G | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity); Belongs to the PI3/PI4-kinase family. (1486 aa) |
| | ATXN2 | Ataxin-2; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. (1313 aa) |
| | TGFBR1 | TGF-beta receptor type-1; Transmembrane serine/threonine kinase forming with the TGF- beta type II serine/threonine kinase receptor, TGFBR2, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinog [...] (507 aa) |
| | KCTD13 | BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission. The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity). Belongs to the BACURD family. (329 aa) |
| | PMF1-BGLAP | PMF1-BGLAP readthrough. (142 aa) |
| | PRPF8 | Pre-mRNA-processing-splicing factor 8; Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both t [...] (2335 aa) |
| | GOSR2 | Golgi SNAP receptor complex member 2; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network; Belongs to the GOSR2 family. (257 aa) |
| | RNF213 | E3 ubiquitin-protein ligase RNF213; E3 ubiquitin-protein ligase involved in angiogenesis. Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression. Also has ATPase activity. (5207 aa) |
| | SLC44A2 | Choline transporter-like protein 2; Isoform 1, but not isoform 3, exhibits some choline transporter activity; Belongs to the CTL (choline transporter-like) family. (711 aa) |
| | ZNF626 | Zinc finger protein 626; May be involved in transcriptional regulation. (528 aa) |
| | DNAH11 | Dynein heavy chain 11, 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. (4516 aa) |
| | CYP1B1 | Cytochrome P450 1B1; 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). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity towar [...] (543 aa) |
| | ABO | Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form; This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity. (373 aa) |
| | PSMB3 | Proteasome subunit beta type-3; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] (205 aa) |
| | ZFHX3 | Zinc 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) |
| | KNG1 | Low molecular weight growth-promoting factor; (1) Kininogens are inhibitors of thiol proteases; (2) HMW- kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) [...] (644 aa) |
