MGP Database

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MGP000007

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family A (ABC1), member 1
Protein EntryABCA1_HUMAN
UniProt IDO95477
SpeciesHuman
Comments
Comment typeDescription
DiseaseHigh density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10431237, ECO:0000269|PubMed:10706591, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:11257260, ECO:0000269|PubMed:11476961, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:11785958, ECO:0000269|PubMed:12111371, ECO:0000269|PubMed:12111381, ECO:0000269|PubMed:12407001, ECO:0000269|PubMed:14576201, ECO:0000269|PubMed:15019541, ECO:0000269|PubMed:15158913, ECO:0000269|PubMed:15262183, ECO:0000269|PubMed:15297675, ECO:0000269|PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHigh density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10533863, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:12009425, ECO:0000269|PubMed:12204794, ECO:0000269|PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainMultifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
FunctioncAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
InductionBy bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. {ECO:0000269|PubMed:11279031, ECO:0000269|PubMed:12032171}.
InteractionQ86UK0:ABCA12; NbExp=4; IntAct=EBI-784112, EBI-9541582; P02647:APOA1; NbExp=4; IntAct=EBI-784112, EBI-701692; P60953:CDC42; NbExp=2; IntAct=EBI-784112, EBI-81752; P55055:NR1H2; NbExp=2; IntAct=EBI-784112, EBI-745354; Q13424:SNTA1; NbExp=2; IntAct=EBI-784112, EBI-717191; Q13884:SNTB1; NbExp=3; IntAct=EBI-784112, EBI-295843; Q86Y82:STX12; NbExp=9; IntAct=EBI-784112, EBI-2691717;
PolymorphismGenetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046].
PtmPalmitoylation by DHHC8 is essential for membrane localization. {ECO:0000269|PubMed:19556522}.
PtmPhosphorylation on Ser-2054 regulates phospholipid efflux. {ECO:0000269|PubMed:12196520}.
Sequence CautionSequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.
SimilarityContains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationMembrane {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}; Multi-pass membrane protein {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}.
SubunitInteracts with MEGF10. {ECO:0000269|PubMed:17205124}.
Tissue SpecificityWidely expressed, but most abundant in macrophages.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95477";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1";
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