ABCMdb

ABCA1 p.Ala494Gly

Predicted by SNAP2:	C: N (66%), D: D (66%), E: D (59%), F: N (66%), G: N (61%), H: D (59%), I: N (87%), K: D (66%), L: N (82%), M: N (78%), N: D (53%), P: D (66%), Q: N (61%), R: D (66%), S: N (66%), T: N (66%), V: N (82%), W: D (63%), Y: D (53%),
Predicted by PROVEAN:	C: N, D: D, E: N, F: N, G: 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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6788 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A4 OCTN1 G475A V159M ↔ N.D. A494G D165G 2 Normal G615A M205I 2 Normal C844T Arg282STOP 2 N.D. C917T T306I ↔ Normal G1385A G462E 2 Normal C1507T L503F 1 Normal SLC22A5 OCTN2 C51G F17L 2 Intracellular C430T L144F ↔ Normal T1345G Y449D 2 N.D. G1441T V481F 2 N.D. G1441A V481I ↔ N.D. T1522C F508L ↔ N.D. A1588G M530V ↔ N.D. C1645T P549S ↔ Normal 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined. Login to comment
6786 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A4 OCTN1 G475A V159M ࢒ N.D. A494G D165G 2 Normal G615A M205I 2 Normal C844T Arg282STOP 2 N.D. C917T T306I ࢒ Normal G1385A G462E 2 Normal C1507T L503F 1 Normal SLC22A5 OCTN2 C51G F17L 2 Intracellular C430T L144F ࢒ Normal T1345G Y449D 2 N.D. G1441T V481F 2 N.D. G1441A V481I ࢒ N.D. T1522C F508L ࢒ N.D. A1588G M530V ࢒ N.D. C1645T P549S ࢒ Normal 2, reduced function; 1, increased function; ࢒, no change in function; N.D. not determined. Login to comment