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ATP-binding cassette sub-family G member 5; sterolin-1 (ABCG5)
Function:
- transporter
- role in selective transport of the dietary cholesterol in & out of enterocytes (putative)
- role in selective sterol excretion by the liver into bile
- may form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating dietery-sterol absorption & excretion
Structure:
- belongs to the ABC transporter family, ABCG (White) subfamily
- contains 1 ABC transporter domain
Compartment: membrane
Expression:
- strongly expressed in the liver
- lower levels in the small intestine & colon
Pathology:
- defects in ABCG5 are a cause of sitosterolemia
Related
beta-sitosterolemia; phytosterolemia; shellfish sterolemia
General
ATP-binding cassette sub-family G (ABC transporter-G, ABG)
glycoprotein
phosphoprotein
transmembrane 6 protein
Properties
SIZE: entity length = 651 aa
MW = 73 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-383}
MOTIF: Ser phosphorylation site {S21}
ABC transporter {52-293}
ATP-binding site
NAME: ATP-binding site
SITE: 86-93
transmembrane domain {384-404}
exoplasmic loop {405-421}
transmembrane domain {422-442}
cytoplasmic loop {443-462}
transmembrane domain {463-483}
exoplasmic loop {484-503}
transmembrane domain {504-524}
cytoplasmic loop {525-528}
transmembrane domain {529-549}
exoplasmic loop {550-623}
MOTIF: N-glycosylation site {N584}
N-glycosylation site {N591}
transmembrane domain {624-644}
cytoplasmic domain {645-651}
Database Correlations
OMIM correlations
MORBIDMAP 605459
UniProt Q9H222
PFAM correlations
Entrez Gene 64240
Kegg hsa:6424
References
- UniProt :accession Q9H222
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCG5