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PIGH | Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (188 aa) | |||
P2RX5 | P2X purinoceptor 5; Receptor for ATP that acts as a ligand-gated ion channel; Minor histocompatibility antigens (422 aa) | |||
P2RX1 | P2X purinoceptor 1; Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity); Purinergic receptors P2X (399 aa) | |||
KCNJ8 | ATP-sensitive inward rectifier potassium channel 8; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity); Belon [...] (424 aa) | |||
P2RX3 | P2X purinoceptor 3; Receptor for ATP that acts as a ligand-gated ion channel; Purinergic receptors P2X (397 aa) | |||
FAM20B | Glycosaminoglycan xylosylkinase; Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG- protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1- O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalyt [...] (409 aa) | |||
GLT8D1 | Glycosyltransferase 8 domain containing 1; Belongs to the glycosyltransferase 8 family (371 aa) | |||
GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily (559 aa) | |||
EIF2B5 | Translation initiation factor eIF-2B subunit epsilon; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family (721 aa) | |||
AP2M1 | AP-2 complex subunit mu; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but [...] (435 aa) | |||
ADCK4 | Atypical kinase COQ8B, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear- does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (544 aa) | |||
PLD6 | Mitochondrial cardiolipin hydrolase; Endonuclease that plays a critical role in PIWI- interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAs provide essential protection against the activity of mobile genetic elements (By similarity). piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). A [...] (252 aa) | |||
P2RX7 | P2X purinoceptor 7; Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells; Purinergic receptors P2X (595 aa) | |||
P2RX2 | P2X purinoceptor 2; Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle; Deafness associated genes (497 aa) | |||
CDH5 | Cadherin-5; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. It associates with alpha-catenin forming a link to the cytoskeleton. Acts in concert with KRIT1 to establish and maintain correct endothelial cell polarity and vascular lumen. These effects are mediated by recrui [...] (784 aa) | |||
P2RX4 | P2X purinoceptor 4; Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin; Purinergic receptors P2X (404 aa) | |||
C17orf62 | Uncharacterized protein C17orf62; Chromosome 17 open reading frame 62 (187 aa) | |||
P2RX6 | P2X purinoceptor 6; Receptor for ATP that acts as a ligand-gated ion channel; Belongs to the P2X receptor family (441 aa) | |||
EIF2B1 | Translation initiation factor eIF-2B subunit alpha; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP (305 aa) | |||
PIH1D3 | Protein PIH1D3; Plays a role in cytoplasmic pre-assembly of axonemal dynein; Belongs to the PIH1 family (214 aa) | |||
ORC4 | Origin recognition complex subunit 4; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3; Belongs to the ORC4 family (436 aa) |