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HEATR2 | Dynein assembly factor 5, axonemal; Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility (855 aa) | |||
ATP1A2 | Sodium/potassium-transporting ATPase subunit alpha-2; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily (1020 aa) | |||
ATP1A4 | Sodium/potassium-transporting ATPase subunit alpha-4; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility; ATPase Na+/K+ transporting subunits (1029 aa) | |||
ATL2 | Atlastin-2; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily (583 aa) | |||
P2RY8 | P2Y purinoceptor 8; Probable receptor for purines coupled to G-proteins; G protein-coupled receptors, Class A orphans (359 aa) | |||
FANCA | Fanconi anemia group A protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability; Fanconi anemia complementation groups (1455 aa) | |||
FAM126A | Hyccin; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta-catenin/Lef signaling pathway (Probable) (521 aa) | |||
HIST2H3PS2 | Histone cluster 2 H3 pseudogene 2 (136 aa) |