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| CDIPT | CDP-diacylglycerol--inositol 3-phosphatidyltransferase; Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns-inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme (213 aa) | |||
| CCDC47 | Coiled-coil domain containing 47 (483 aa) | |||
| UNC93B1 | Protein unc-93 homolog B1; Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal; Belongs to the unc-93 family (597 aa) | |||
| GOLT1B | Vesicle transport protein GOT1B; May be involved in fusion of ER-derived transport vesicles with the Golgi complex (138 aa) | |||
| MBOAT7 | Lysophospholipid acyltransferase 7; Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain d [...] (472 aa) | |||
| SEMA7A | Semaphorin-7A; Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes; Belongs to the sem [...] (666 aa) | |||
| NPC1 | Niemann-Pick C1 protein; Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular ’tag team duo’ (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of [...] (1278 aa) | |||
| STT3B | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). STT3B is present in a small subset of [...] (826 aa) | |||
| TLR3 | Toll-like receptor 3; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response; CD molecules (904 aa) | |||
| SCAMP3 | Secretory carrier-associated membrane protein 3; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface; Belongs to the SCAMP family (347 aa) | |||
| SPNS1 | Protein spinster homolog 1; Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death (528 aa) | |||
| TLR8 | Toll-like receptor 8; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response; CD molecules (1059 aa) | |||
| CLPTM1 | Cleft lip and palate transmembrane protein 1; May play a role in T-cell development; Belongs to the CLPTM1 family (669 aa) | |||
| SEL1L | Protein sel-1 homolog 1; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling (794 aa) | |||
| PIGN | GPI ethanolamine phosphate transferase 1; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation; Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily (931 aa) | |||
| ANKHD1 | Ankyrin repeat and KH domain-containing protein 1; May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases; Belongs to the mask family (2542 aa) | |||
| LPGAT1 | Acyl-CoA-lysophosphatidylglycerol acyltransferase 1; Lysophosphatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family (370 aa) | |||
| IRAK1 | Interleukin-1 receptor-associated kinase 1; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor- signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiqui [...] (712 aa) | |||
| TM9SF3 | Transmembrane 9 superfamily member 3 (589 aa) | |||
| YIPF3 | Protein YIPF3; Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis; Yip1 domain containing (350 aa) | |||
| TM9SF2 | Transmembrane 9 superfamily member 2; In the intracellular compartments, may function as a channel or small molecule transporter; Transmembrane 9 superfamily members (663 aa) | |||
| SYNDIG1 | Synapse differentiation-inducing gene protein 1; May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation; Belongs to the CD225/Dispanin family (258 aa) | |||
| FASTKD5 | FAST kinase domain-containing protein 5, mitochondrial; Plays an important role in the processing of non- canonical mitochondrial mRNA precursors; FASTK mitochondrial RNA binding family (764 aa) | |||
| DDOST | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation; Glutamine amidotransferase like class 1 domain containing (456 aa) | |||
| TMCO1 | Calcium load-activated calcium channel; Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (239 aa) | |||
| FDFT1 | Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1 (417 aa) | |||
