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CFTR | Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH [...] (1480 aa) | |||
TRIP13 | Pachytene checkpoint protein 2 homolog; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for [...] (432 aa) | |||
ABCC6 | Multidrug resistance-associated protein 6; Isoform 1- May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS); ATP binding cassette subfamily C (1503 aa) | |||
ATAD2B | ATPase family, AAA domain containing 2B (1458 aa) | |||
PEX1 | Peroxisome biogenesis factor 1; Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes (1283 aa) | |||
SDCBP | Syntenin-1; Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1- mediated SMAD2/3 activation and TGFB1-induced epithelial-to- mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1. In concert with SDC1/4 and PDCD6I [...] (298 aa) | |||
ABCC9 | ATP-binding cassette sub-family C member 9; Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily (1549 aa) | |||
ABCB11 | Bile salt export pump; Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes; Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily (1321 aa) | |||
ABCB6 | ATP-binding cassette sub-family B member 6, mitochondrial; Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis; Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily (842 aa) | |||
ABCB4 | Phosphatidylcholine translocator ABCB4; Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts. Plays a role in the recruitment of pho [...] (1286 aa) | |||
SPATA5 | Spermatogenesis-associated protein 5; May be involved in morphological and functional mitochondrial transformations during spermatogenesis; Belongs to the AAA ATPase family. AFG2 subfamily (893 aa) | |||
NVL | Nuclear valosin-containing protein-like; Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. May play a role in 60S ribosomal subunit biogenesis; Belongs to the AAA ATPase family (856 aa) | |||
ABCC3 | Canalicular multispecific organic anion transporter 2; May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity); Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily (1527 aa) | |||
FANCD2 | Fanconi anemia group D2 protein; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by rep [...] (1471 aa) | |||
ABCB8 | ATP-binding cassette sub-family B member 8, mitochondrial; ATP binding cassette subfamily B member 8; Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily (735 aa) | |||
PEX6 | Peroxisome assembly factor 2; Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes (980 aa) | |||
ABCC8 | ATP-binding cassette sub-family C member 8; Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release; ATP binding cassette subfamily C (1582 aa) | |||
SPATA5L1 | Spermatogenesis-associated protein 5-like protein 1; Spermatogenesis associated 5 like 1; Belongs to the AAA ATPase family. AFG2 subfamily (753 aa) | |||
ABCC12 | Multidrug resistance-associated protein 9; Probable transporter; ATP binding cassette subfamily C (1359 aa) | |||
FIGN | Fidgetin; ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chr [...] (759 aa) | |||
ABCC5 | Multidrug resistance-associated protein 5; Acts as a multispecific organic anion pump which can transport nucleotide analogs; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily (1437 aa) | |||
ABCC2 | Canalicular multispecific organic anion transporter 1; Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter; ATP binding cassette subfamily C (1545 aa) | |||
ABCC4 | Multidrug resistance-associated protein 4; May be an organic anion pump relevant to cellular detoxification; ATP binding cassette subfamily C (1325 aa) | |||
ABCC1 | Multidrug resistance-associated protein 1; Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily (1531 aa) | |||
DCT | L-dopachrome tautomerase; Catalyzes the conversion of L-dopachrome into 5,6- dihydroxyindole-2-carboxylic acid (DHICA). Involved in regulating eumelanin and phaeomelanin levels; Belongs to the tyrosinase family (552 aa) | |||
TOMM40 | Mitochondrial import receptor subunit TOM40 homolog; Channel-forming protein essential for import of protein precursors into mitochondria; Belongs to the Tom40 family (361 aa) |