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FUCA2 FUCA2 ARSA ARSA CERK CERK SPTLC2 SPTLC2 GLA GLA SMPD3 SMPD3 NAGLU NAGLU NEU2 NEU2 PLEKHA3 PLEKHA3 ORMDL2 ORMDL2 SGPP1 SGPP1 IDUA IDUA CLN6 CLN6 CERS4 CERS4 CSNK1G2 CSNK1G2 SMPD2 SMPD2 GNS GNS GALC GALC HEXB HEXB SPTLC1 SPTLC1 ARSB ARSB GALNS GALNS CERS2 CERS2 SUMF1 SUMF1 CERS3 CERS3 MAN2B2 MAN2B2 NEU3 NEU3 SPTSSA SPTSSA ACER1 ACER1 B4GALT6 B4GALT6 GLB1 GLB1 DEGS2 DEGS2 CTSF CTSF UGT8 UGT8 SPHK1 SPHK1 GBA GBA SGSH SGSH SGPP2 SGPP2 GLTP GLTP DEGS1 DEGS1 ARSJ ARSJ NEU4 NEU4 SLC25A22 SLC25A22 MTURN MTURN CERS5 CERS5 ORMDL1 ORMDL1 CLN8 CLN8 ENPP7 ENPP7 ARSI ARSI IDS IDS SMPD1 SMPD1 ACER2 ACER2 CPTP CPTP GM2A GM2A ZDHHC9 ZDHHC9 GOLGA7 GOLGA7 SPTSSB SPTSSB CSNK1G3 CSNK1G3 SGMS1 SGMS1 OGA OGA CHIT1 CHIT1 CHIA CHIA SH3BGRL2 SH3BGRL2 HMGB3 HMGB3 KCNT1 KCNT1 GBGT1 GBGT1 CTSA CTSA PCDH19 PCDH19 SGPL1 SGPL1 SMPDL3B SMPDL3B UGCG UGCG FUCA1 FUCA1 NEU1 NEU1 GBA2 GBA2 ARX ARX HGSNAT HGSNAT CDKL5 CDKL5 ARSK ARSK ARSH ARSH ASAH1 ASAH1 CERS6 CERS6 RENBP RENBP ORMDL3 ORMDL3 SGMS2 SGMS2 ASAH2 ASAH2 NAGA NAGA SPTLC3 SPTLC3 CERT1 CERT1 A4GALT A4GALT GAL3ST1 GAL3ST1 SMPD4 SMPD4 MAN2B1 MAN2B1 PLEKHA8 PLEKHA8 ARSG ARSG ACER3 ACER3 CLN3 CLN3 HEXA HEXA MAN2C1 MAN2C1 SPHK2 SPHK2 A3GALT2 A3GALT2 CSNK1G1 CSNK1G1 NAGK NAGK CERS1 CERS1 KCTD7 KCTD7 PPT1 PPT1 MFSD8 MFSD8 KDSR KDSR TBC1D24 TBC1D24 MANBA MANBA ENSP00000498395 ENSP00000498395 SUMF2 SUMF2 B3GALNT1 B3GALNT1 CLN5 CLN5
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FUCA2Plasma alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins; Belongs to the glycosyl hydrolase 29 family. (467 aa)
ARSAArylsulfatase A component B; Hydrolyzes cerebroside sulfate. (509 aa)
CERKCeramide kinase; Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2- ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Shows a greater preference for D-erythro isomer of ceramides. Binds phosphoinositides. (537 aa)
SPTLC2Serine palmitoyltransferase 2; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. (562 aa)
GLAGalactosidase alpha; Belongs to the glycosyl hydrolase 27 family. (429 aa)
SMPD3Sphingomyelin phosphodiesterase 3; Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization; Belongs to the neutral sphingomyelinase family. (655 aa)
NAGLUAlpha-N-acetylglucosaminidase 77 kDa form; Involved in the degradation of heparan sulfate. (743 aa)
NEU2Sialidase-2; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins, oligosaccharides and gangliosides. (380 aa)
PLEKHA3Pleckstrin homology domain-containing family A member 3; Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4- phosphate (PtdIns4P). (300 aa)
ORMDL2ORM1-like protein 2; Negative regulator of sphingolipid synthesis. (153 aa)
SGPP1Sphingosine-1-phosphate phosphatase 1; Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway. Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger. Involved in efficient ceramide syn [...] (441 aa)
IDUAalpha-L-iduronidase. (653 aa)
CLN6CLN6 transmembrane ER protein. (311 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)
CSNK1G2Casein kinase I isoform gamma-2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degra [...] (415 aa)
SMPD2Sphingomyelin phosphodiesterase 2; Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso- sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero- 3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF; Belongs to the neutral sphingomyelinase family. (423 aa)
GNSN-acetylglucosamine-6-sulfatase; Glucosamine-6-sulfatase; Belongs to the sulfatase family. (552 aa)
GALCGalactocerebrosidase; Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon; Belongs to the glycosyl hydrolase 59 family. (685 aa)
HEXBBeta-hexosaminidase subunit beta chain A; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues; Belongs to the glycosyl hydrolase 20 family. (556 aa)
SPTLC1Serine palmitoyltransferase 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to [...] (473 aa)
ARSBArylsulfatase B; Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation. Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium. In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). Belongs to the sulfatase family. (533 aa)
GALNSN-acetylgalactosamine-6-sulfatase; Galactosamine-6-sulfatase; Belongs to the sulfatase family. (522 aa)
CERS2Ceramide synthase 2; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very- long (C22:0-C24:0) chain as acyl donor. (380 aa)
SUMF1Formylglycine-generating enzyme; Oxidase that catalyzes the conversion of cysteine to 3- oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent. 3- oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile. Known substrates include GALNS, ARSA, STS and ARSE. Belongs to the sulfatase-modifying factor family. (374 aa)
CERS3Ceramide synthase 3; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very- long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor. It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal. differentiation. (383 aa)
MAN2B2Epididymis-specific alpha-mannosidase; Mannosidase alpha class 2B member 2; Belongs to the glycosyl hydrolase 38 family. (1009 aa)
NEU3Sialidase-3; Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates. Belongs to the glycosyl hydrolase 33 family. (461 aa)
SPTSSASerine palmitoyltransferase small subunit A; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1- SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. Plays a role in MBOAT7 location to mitochondria-associated membranes (MAMs), may me involved in fatty acid remodeling phosphatidylinositol (PI). (71 aa)
ACER1Alkaline ceramidase 1; Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1- phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acid [...] (264 aa)
B4GALT6Beta-1,4-galactosyltransferase 6; Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Belongs to the glycosyltransferase 7 family. (382 aa)
GLB1Beta-galactosidase; [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. (677 aa)
DEGS2Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2; Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase. (323 aa)
CTSFCathepsin F; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis. (484 aa)
UGT82-hydroxyacylsphingosine 1-beta-galactosyltransferase; Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system; Belongs to the UDP-glycosyltransferase family. (541 aa)
SPHK1Sphingosine kinase 1; Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo- dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis. Involved in the regulation of inflammatory response and neuroinflammation. Via [...] (470 aa)
GBALysosomal acid glucosylceramidase; Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. [...] (536 aa)
SGSHN-sulphoglucosamine sulphohydrolase; Catalyzes a step in lysosomal heparan sulfate degradation. Belongs to the sulfatase family. (502 aa)
SGPP2Sphingosine-1-phosphate phosphatase 2; Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (By similarity). May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling. Plays a role in the regulation of pancreatic islet beta-cell endoplasmic re [...] (399 aa)
GLTPGlycolipid transfer protein; Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides. (209 aa)
DEGS1Sphingolipid delta(4)-desaturase DES1; Has sphingolipid-delta-4-desaturase activity. Converts D- erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). Belongs to the fatty acid desaturase type 1 family. DEGS subfamily. (323 aa)
ARSJArylsulfatase family member J. (599 aa)
NEU4Sialidase-4; May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4- MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids. (497 aa)
SLC25A22Mitochondrial glutamate carrier 1; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). Belongs to the mitochondrial carrier (TC 2.A.29) family. (323 aa)
MTURNMaturin; Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression. Represses NF-kappa-B transcriptional activity by inhibiting phosphorylation of RELA at 'Ser-536'. May be involved in early neuronal development (By similarity). Belongs to the MTURN family. (131 aa)
CERS5Ceramide synthase 5; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor. Can use other acyl donors, but with less efficiency (By similarity). (392 aa)
ORMDL1ORM1-like protein 1; Negative regulator of sphingolipid synthesis. (153 aa)
CLN8Protein CLN8; Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. (286 aa)
ENPP7Ectonucleotide pyrophosphatase/phosphodiesterase family member 7; Converts sphingomyelin to ceramide and phosphocholine. Has also phospholipase C activity and can cleave phosphocholine from palmitoyl lyso-phosphatidylcholine. Does not have nucleotide pyrophosphatase activity. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. (458 aa)
ARSIArylsulfatase I; Displays arylsulfatase activity at neutral pH, when co- expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts. (569 aa)
IDSIduronate 2-sulfatase 14 kDa chain; Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate. (550 aa)
SMPD1Sphingomyelin phosphodiesterase; Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity; Belongs to the acid sphingomyelinase family. (631 aa)
ACER2Alkaline ceramidase 2; Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides. Saturated long-chain ceramides and unsaturated very long-chain ceramides [...] (275 aa)
CPTPCeramide-1-phosphate transfer protein; Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1- phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity [...] (214 aa)
GM2AGanglioside GM2 activator isoform short; The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium- independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D- galactosamine and conversion to GM3. (193 aa)
ZDHHC9Palmitoyltransferase ZDHHC9; The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. (364 aa)
GOLGA7Golgin subfamily A member 7; May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. (137 aa)
SPTSSBSerine palmitoyltransferase small subunit B; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference, complexes with this subunit showing a clear preference for longer acyl-CoAs. The SPTLC1-SPTLC2- SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. May play a role in signal transduction. (76 aa)
CSNK1G3Casein kinase I isoform gamma-3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). (455 aa)
SGMS1Phosphatidylcholine:ceramide cholinephosphotransferase 1; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell [...] (413 aa)
OGAProtein O-GlcNAcase; [Isoform 1]: Cleaves GlcNAc but not GalNAc from O- glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc and 4- methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl-beta- GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro). Does not bind acetyl-CoA and does not have histone acetyltransferase activity. (916 aa)
CHIT1Chitotriosidase-1; Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity. (466 aa)
CHIAAcidic mammalian chitinase; Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on [...] (476 aa)
SH3BGRL2SH3 domain binding glutamate rich protein like 2; Belongs to the SH3BGR family. (107 aa)
HMGB3High mobility group protein B3; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell [...] (200 aa)
KCNT1Potassium channel subfamily T member 1; Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. (1235 aa)
GBGT1Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1; Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens. (347 aa)
CTSALysosomal protective protein 20 kDa chain; Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins. (498 aa)
PCDH19Protocadherin-19; Potential calcium-dependent cell-adhesion protein. (1148 aa)
SGPL1Sphingosine-1-phosphate lyase 1; Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis. Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro- inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal co [...] (568 aa)
SMPDL3BAcid sphingomyelinase-like phosphodiesterase 3b; Lipid-modulating phosphodiesterase. Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity). Has in vitro phosphodiesterase activity, but the physiological substrate is unknown. Lacks activity with phosphocholine-containing lipids, but can cleave CDP-choline, and can release phosphate from ATP and ADP (in vitro) (By similarity). Belongs to the acid sphingomyelinase family. (455 aa)
UGCGCeramide glucosyltransferase; Catalyzes at the cytosolic surface of the Golgi, the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway, the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer. Glucosylceramide is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures. Glycosphingolipids are essential components of membrane microdomains that m [...] (394 aa)
FUCA1Tissue alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins; Belongs to the glycosyl hydrolase 29 family. (466 aa)
NEU1Sialidase-1; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. (415 aa)
GBA2Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide. Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its [...] (927 aa)
ARXHomeobox protein ARX; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate; Belongs to the paired homeobox family. Bicoid subfamily. (562 aa)
HGSNATHeparan-alpha-glucosaminide N-acetyltransferase; Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. (635 aa)
CDKL5Cyclin-dependent kinase-like 5; Mediates phosphorylation of MECP2. May regulate ciliogenesis. (1030 aa)
ARSKArylsulfatase family member K. (536 aa)
ARSHArylsulfatase family member H. (562 aa)
ASAH1Acid ceramidase subunit alpha; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. For the reverse syntheti [...] (411 aa)
CERS6Ceramide synthase 6; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor. Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochon [...] (392 aa)
RENBPN-acylglucosamine 2-epimerase; Catalyzes the interconversion of N-acetylglucosamine to N- acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. 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. (427 aa)
ORMDL3ORM1-like protein 3; Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling. Belongs to the ORM family. (153 aa)
SGMS2Phosphatidylcholine:ceramide cholinephosphotransferase 2; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signa [...] (365 aa)
ASAH2Neutral ceramidase soluble form; Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1 [...] (780 aa)
NAGAAlpha-N-acetylgalactosaminidase; Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. (411 aa)
SPTLC3Serine palmitoyltransferase 3; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. SPT complexes containing SPTLC3 generate shorter chain sphingoid bases compared to complexes containing SPTLC2. The SPTLC1- SPTLC3-SPTSSA isozyme uses C12-CoA, C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. On the other hand, the SPTLC1- SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference. (552 aa)
CERT1Ceramide transfer protein; Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner. (752 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)
GAL3ST1Galactosylceramide sulfotransferase; Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro); Belongs to the galactose-3-O-sulfotransferase family. (423 aa)
SMPD4Sphingomyelin phosphodiesterase 4; Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. May sensitize cells to DNA damage-induced apoptosis. (866 aa)
MAN2B1Lysosomal alpha-mannosidase A peptide; Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages; Belongs to the glycosyl hydrolase 38 family. (1011 aa)
PLEKHA8Pleckstrin homology domain-containing family A member 8; Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4- phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by [...] (519 aa)
ARSGArylsulfatase G; Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate. (525 aa)
ACER3Alkaline ceramidase 3; Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4- ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1- phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1- [...] (267 aa)
CLN3Battenin; Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. (438 aa)
HEXABeta-hexosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity; Belongs to the glycosyl hydrolase 20 family. (540 aa)
MAN2C1Alpha-mannosidase 2C1; Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm; Belongs to the glycosyl hydrolase 38 family. (1057 aa)
SPHK2Sphingosine kinase 2; Catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D- erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides. In contrast to prosurvival SPHK1, has a positive effect on intracellular ceramide levels, inhibits cells growth and enhances apoptosis. In mitochondria, is important for cytochrome-c oxidase assembly and mitochondrial respiration. The SPP produced in mitochondria binds PHB2 and modulates the regulat [...] (654 aa)
A3GALT2Alpha-1,3-galactosyltransferase 2; Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures. Belongs to the glycosyltransferase 6 family. (340 aa)
CSNK1G1Casein kinase I isoform gamma-1; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. (475 aa)
NAGKN-acetyl-D-glucosamine kinase; Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. 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. Also has ManNAc kinase activity. (390 aa)
CERS1Ceramide synthase 1. (372 aa)
KCTD7BTB/POZ domain-containing protein KCTD7; May be involved in the control of excitability of cortical neurons. (289 aa)
PPT1Palmitoyl-protein thioesterase 1; Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons ; Belongs to the palmitoyl-protein thioesterase family. (306 aa)
MFSD8Major facilitator superfamily domain-containing protein 8; May be a carrier that transport small solutes by using chemiosmotic ion gradients. (518 aa)
KDSR3-ketodihydrosphingosine reductase; Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS); Belongs to the short-chain dehydrogenases/reductases (SDR) family. (332 aa)
TBC1D24TBC1 domain family member 24; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. (559 aa)
MANBABeta-mannosidase; Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides; Belongs to the glycosyl hydrolase 2 family. (879 aa)
ENSP00000498395Novel protein. (339 aa)
SUMF2Inactive C-alpha-formylglycine-generating enzyme 2; Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. Belongs to the sulfatase-modifying factor family. (358 aa)
B3GALNT1UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine onto globotriaosylceramide. Plays a critical role in preimplantation stage embryonic development (By similarity); Belongs to the glycosyltransferase 31 family. (331 aa)
CLN5Ceroid-lipofuscinosis neuronal protein 5, secreted form; Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane. (407 aa)
Your Current Organism:
Homo sapiens
NCBI taxonomy Id: 9606
Other names: H. sapiens, human, man
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