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ARSA | Arylsulfatase A; Hydrolyzes cerebroside sulfate; Belongs to the sulfatase family (509 aa) | |||
CERK | Ceramide 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. Binds phosphoinositides (537 aa) | |||
GLA | Galactosidase alpha; Belongs to the glycosyl hydrolase 27 family (429 aa) | |||
SMPD3 | Sphingomyelin 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) | |||
ECH1 | Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA (328 aa) | |||
NEU2 | Sialidase-2; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins, oligosaccharides and gangliosides (380 aa) | |||
SGPP1 | Sphingosine-1-phosphate phosphatase 1; Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1- phoshate, lysophosphatidic acid or phosphatidic acid. 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 synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase. In [...] (441 aa) | |||
CERS4 | Ceramide synthase 4; May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner (By similarity); CERS class homeoboxes (394 aa) | |||
SMPD2 | Sphingomyelin 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) | |||
GALC | Galactocerebrosidase; 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) | |||
CERS2 | Ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis; CERS class homeoboxes (380 aa) | |||
CERS3 | Ceramide synthase 3; Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18-0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation; CERS class homeoboxes (383 aa) | |||
OTUD6B | OTU domain containing 6B (323 aa) | |||
NCOA5 | Nuclear receptor coactivator 5; Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2) (579 aa) | |||
FBXO45 | F-box/SPRY domain-containing protein 1; Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation; F-boxes other (286 aa) | |||
PSAPL1 | Proactivator polypeptide-like 1; May activate the lysosomal degradation of sphingolipids (521 aa) | |||
TRMT11 | tRNA (guanine(10)-N2)-methyltransferase homolog; Catalytic subunit of an S-adenosyl-L-methionine- dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs (463 aa) | |||
ECI2 | Enoyl-CoA delta isomerase 2, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity) (394 aa) | |||
PSAP | Prosaposin; Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases; Endogenous ligands (524 aa) | |||
NEURL4 | Neuralized-like protein 4; Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers (1562 aa) | |||
SFTPB | Pulmonary surfactant-associated protein B; Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter (393 aa) | |||
TMEM51 | Transmembrane protein 51 (253 aa) | |||
FAM86A | Protein-lysine N-methyltransferase EEF2KMT; Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on ’Lys-525’ (330 aa) | |||
CST7 | Cystatin-F; Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system; Cystatins, type 2 (145 aa) | |||
GTF2H2C | General transcription factor IIH subunit 2-like protein; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II (395 aa) | |||
TRAF3 | TNF receptor-associated factor 3; Regulates pathways leading to the activation of NF- kappa-B and MAP kinases, and plays a central role in the regulation of B-cell survival. Part of signaling pathways leading to the production of cytokines and interferon. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Plays a role in the regulation of antiviral responses. Is an essential constituent of several E3 ubiquitin-protein ligase complexes. May have E3 ubiquitin-protein ligase activity and promote ’Lys-63’-linked ubiquitination of [...] (568 aa) |