ABCA1 p.Gly1256Cys
| Predicted by SNAP2: | A: N (82%), C: N (72%), D: N (72%), E: N (72%), F: N (57%), H: N (87%), I: N (53%), K: N (82%), L: N (78%), M: N (72%), N: N (82%), P: N (57%), Q: N (87%), R: N (78%), S: N (82%), T: N (82%), V: N (78%), W: D (53%), Y: N (66%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
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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
6743 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC15A1 PEPT1 G61A V21I ↔ N.D. T83A F28Y 2 Normal G350A S117N ↔ Normal G364A V122M ↔ Normal G1256C G419A ↔ Normal G1348A V450I ↔ Normal C1352A T451N ↔ Normal C1609T P537S ↔ N.D. C1757T P586L 2 Reduced SLC15A2 PEPT2 G207A R57H 2 Normal C1048T L350F N.D. N.D. C1225T P409S ↔ Normal G1526A R509K N.D. N.D. 2, reduced function; ↔, no change in function; N.D. not determined.
X
ABCA1 p.Gly1256Cys 20103563:6743:200
status: NEW6741 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC15A1 PEPT1 G61A V21I N.D. T83A F28Y 2 Normal G350A S117N Normal G364A V122M Normal G1256C G419A Normal G1348A V450I Normal C1352A T451N Normal C1609T P537S N.D. C1757T P586L 2 Reduced SLC15A2 PEPT2 G207A R57H 2 Normal C1048T L350F N.D. N.D. C1225T P409S Normal G1526A R509K N.D. N.D. 2, reduced function; , no change in function; N.D. not determined.
X
ABCA1 p.Gly1256Cys 20103563:6741:197
status: NEW