ATP-binding cassette, sub-family A (ABC1), member 12

Function: - lipid homeostasis Structure: - multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain & an ATP binding cassette (ABC) domain (putative) - belongs to the ABC transporter family, ABCA subfamily - contains 2 ABC transporter domains Compartment: membrane Alternative splicing: named isoforms=2 Additional isoforms seem to exist Expression: - expressed in the stomach, placenta, testis, fetal brain Pathology: - defects in ABCA12 are the cause of a) lamellar ichthyosis type 2 b) ichthyosis harlequin

General

ATP-binding cassette sub-family A (ABC transporter-A, ABCA) glycoprotein transmembrane 14 protein

Properties

SIZE: MW = 293 kD entity length = 2595 aa COMPARTMENT: cellular membrane MOTIF: transmembrane domain {23-43} N-glycosylation site {N156} N-glycosylation site {N174} N-glycosylation site {N214} N-glycosylation site {N275} N-glycosylation site {N333} N-glycosylation site {N367} N-glycosylation site {N383} N-glycosylation site {N412} N-glycosylation site {N435} N-glycosylation site {N528} N-glycosylation site {N543} N-glycosylation site {N577} N-glycosylation site {N608} N-glycosylation site {N623} N-glycosylation site {N648} N-glycosylation site {N752} N-glycosylation site {N826} N-glycosylation site {N920} N-glycosylation site {N963} transmembrane domain {1065-1085} transmembrane domain {1112-1132} transmembrane domain {1145-1165} N-glycosylation site {N1170} transmembrane domain {1174-1194} transmembrane domain {1200-1220} transmembrane domain {1250-1270} ABC TRANSPORTER 1 {1346-1577} MOTIF: ATP-binding site NAME: ATP-binding site SITE: 1378-1385 N-glycosylation site {N1524} N-glycosylation site {N1663} N-glycosylation site {N1704} transmembrane domain {1747-1767} N-glycosylation site {N1769} N-glycosylation site {N1819} N-glycosylation site {N1835} N-glycosylation site {N1876} N-glycosylation site {N1921} N-glycosylation site {N1952} transmembrane domain {1979-1999} transmembrane domain {2035-2055} transmembrane domain {2072-2092} transmembrane domain {2103-2123} N-glycosylation site {N2178} transmembrane domain {2187-2207} N-glycosylation site {N2208} N-glycosylation site {N2223} transmembrane domain {2270-2290} ATP-binding site NAME: ATP-binding site SITE: 2290-2297 N-glycosylation site {N2318} N-glycosylation site {N2542} N-glycosylation site {N2547}

Database Correlations

OMIM correlations MORBIDMAP 607800 UniProt Q86UK0 Pfam PF00005 Entrez Gene 26154