ABCB4 p.Gly495Ala
| Predicted by SNAP2: | A: N (97%), C: N (87%), D: N (97%), E: N (97%), F: N (78%), H: N (97%), I: N (93%), K: N (97%), L: N (97%), M: N (87%), N: N (97%), P: N (93%), Q: N (97%), R: N (97%), S: N (97%), T: N (97%), V: N (97%), W: N (66%), Y: N (72%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Xenobiotic, bile acid, and cholesterol transporter... Pharmacol Rev. 2010 Mar;62(1):1-96. Epub 2010 Jan 26. Klaassen CD, Aleksunes LM
Xenobiotic, bile acid, and cholesterol transporters: function and regulation.
Pharmacol Rev. 2010 Mar;62(1):1-96. Epub 2010 Jan 26., [PMID:20103563]
Abstract [show]
Transporters influence the disposition of chemicals within the body by participating in absorption, distribution, and elimination. Transporters of the solute carrier family (SLC) comprise a variety of proteins, including organic cation transporters (OCT) 1 to 3, organic cation/carnitine transporters (OCTN) 1 to 3, organic anion transporters (OAT) 1 to 7, various organic anion transporting polypeptide isoforms, sodium taurocholate cotransporting polypeptide, apical sodium-dependent bile acid transporter, peptide transporters (PEPT) 1 and 2, concentrative nucleoside transporters (CNT) 1 to 3, equilibrative nucleoside transporter (ENT) 1 to 3, and multidrug and toxin extrusion transporters (MATE) 1 and 2, which mediate the uptake (except MATEs) of organic anions and cations as well as peptides and nucleosides. Efflux transporters of the ATP-binding cassette superfamily, such as ATP-binding cassette transporter A1 (ABCA1), multidrug resistance proteins (MDR) 1 and 2, bile salt export pump, multidrug resistance-associated proteins (MRP) 1 to 9, breast cancer resistance protein, and ATP-binding cassette subfamily G members 5 and 8, are responsible for the unidirectional export of endogenous and exogenous substances. Other efflux transporters [ATPase copper-transporting beta polypeptide (ATP7B) and ATPase class I type 8B member 1 (ATP8B1) as well as organic solute transporters (OST) alpha and beta] also play major roles in the transport of some endogenous chemicals across biological membranes. This review article provides a comprehensive overview of these transporters (both rodent and human) with regard to tissue distribution, subcellular localization, and substrate preferences. Because uptake and efflux transporters are expressed in multiple cell types, the roles of transporters in a variety of tissues, including the liver, kidneys, intestine, brain, heart, placenta, mammary glands, immune cells, and testes are discussed. Attention is also placed upon a variety of regulatory factors that influence transporter expression and function, including transcriptional activation and post-translational modifications as well as subcellular trafficking. Sex differences, ontogeny, and pharmacological and toxicological regulation of transporters are also addressed. Transporters are important transmembrane proteins that mediate the cellular entry and exit of a wide range of substrates throughout the body and thereby play important roles in human physiology, pharmacology, pathology, and toxicology.
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No. Sentence Comment
6468 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A1 OCT1 C41T S14F 1 N.D. C181T R61C 2 Reduced T262C C88R 2 N.D. C480G F160L ↔ Normal C566T S189L ↔ N.D. G659T G220V 2 N.D. C848T P283L 2 Normal C859G R287G 2 Normal C1022T P341L 2↔ Normal G1201A G401S 2 N.D. A1222G M408V ↔ N.D. 1258del Met420STOP 2↔ N.D. G1393A G465R 2 Reduced SLC22A2 OCT2 C160T P54S ↔ N.D. T481C F161L ↔ N.D. A493G M165V 2↔ N.D. G495A M165I 2↔ N.D. C596T T199I 2 Normal C602T T201M 2 Normal G808T A270S 2 Normal C890G A297G ↔ N.D. C1198T R400C 2 N.D. A1294C K432Q 2↔ N.D. 2, reduced function; 1; increased function; ↔, no change in function; N.D. not determined.
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ABCB4 p.Gly495Ala 20103563:6468:496
status: NEW