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| ORMDL2 | ORM1-like protein 2; Negative regulator of sphingolipid synthesis (153 aa) | |||
| NDUFB5 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, 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 (189 aa) | |||
| UGGT1 | UDP-glucose-glycoprotein glucosyltransferase 1; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation; UDP-glucose glycoprotein glucosyltransferases (1555 aa) | |||
| SIGMAR1 | Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] (223 aa) | |||
| ENPP6 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 6; Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12-0 and 14-0) or polyunsaturated (18-2 and 20-4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipa [...] (440 aa) | |||
| TMED10 | Transmembrane emp24 domain-containing protein 10; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft [...] (219 aa) | |||
| CRLF3 | Cytokine receptor-like factor 3; May play a role in the negative regulation of cell cycle progression; Fibronectin type III domain containing (442 aa) | |||
| AGTRAP | Type-1 angiotensin II receptor-associated protein; Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity (159 aa) | |||
| ORMDL1 | ORM1-like protein 1; Negative regulator of sphingolipid synthesis (153 aa) | |||
| MEX3B | RNA-binding protein MEX3B; RNA-binding protein. May be involved in post- transcriptional regulatory mechanisms; Ring finger proteins (569 aa) | |||
| RIPK4 | Receptor-interacting serine/threonine-protein kinase 4; Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family (784 aa) | |||
| ELOVL2 | Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20-4(n- 6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyuns [...] (296 aa) | |||
| RUNDC1 | RUN domain-containing protein 1; May play a role as p53/TP53 inhibitor and thus may have oncogenic activity (613 aa) | |||
| ELOVL4 | Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that specifically elongates C24-0 and C26-0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and [...] (314 aa) | |||
| ELOVL3 | Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18-0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of memb [...] (270 aa) | |||
| PIGK | GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein’s C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein; Belongs to the peptidase C13 family (395 aa) | |||
| ELOVL5 | Elongation of very long chain fatty acids protein 5; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18-3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multi [...] (326 aa) | |||
| UGGT2 | UDP-glucose-glycoprotein glucosyltransferase 2; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation (By similarity); Belongs to the glycosyltransferase 8 family (1516 aa) | |||
| ASPH | Aspartyl/asparaginyl beta-hydroxylase; Isoform 1- specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins; Belongs to the aspartyl/asparaginyl beta-hydroxylase family (758 aa) | |||
| PISD | Phosphatidylserine decarboxylase proenzyme, mitochondrial; Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine; Belongs to the phosphatidylserine decarboxylase family. PSD-B subfamily. Eukaryotic type I sub-subfamily (375 aa) | |||
| SACS | Sacsin; Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins; DNAJ heat shock proteins (4579 aa) | |||
| LGMN | Legumain; Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system; Belongs to the peptidase C13 family (433 aa) | |||
| ORMDL3 | ORM1-like protein 3; Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling; Belongs to the ORM family (153 aa) | |||
| ELOVL6 | Elongation of very long chain fatty acids protein 6; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16-0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18-0 and those with low desaturation degree. May part [...] (265 aa) | |||
| ELOVL7 | Elongation of very long chain fatty acids protein 7; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18-3(n-3) acyl-CoAs and C18-3(n-6)-CoAs. Also active toward C20-4-, C18-0-, C18-1-, C18-2- and C16-0-CoAs, and weakly toward C20-0-CoA. Little or no activity toward C22-0-, C24-0-, or C26-0 [...] (281 aa) | |||
| ELOVL1 | Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22-0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involve [...] (279 aa) | |||
