MGP Database

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MGP004678

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family A (ABC1), member 6
Protein EntryABCA6_HUMAN
UniProt IDQ8N139
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N139-1; Sequence=Displayed; Name=2; Synonyms=ABCA6delta-139; IsoId=Q8N139-2; Sequence=VSP_020697, VSP_020698; Name=3; IsoId=Q8N139-3; Sequence=VSP_020695, VSP_020696; Note=No experimental confirmation available.;
Developmental StageExpressed in fetal kidney, lung and liver. {ECO:0000269|Ref.2}.
FunctionProbable transporter which may play a role in macrophage lipid homeostasis.
InductionUp-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. {ECO:0000269|PubMed:10639163}.
Sequence CautionSequence=AAM77557.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=AAM77558.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=BAC04994.1; Type=Erroneous initiation; 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:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityWidely expressed with higher expression in liver. {ECO:0000269|PubMed:11478798, ECO:0000269|Ref.2}.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8N139";
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