MitoProteome Database

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MT000770

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family A (ABC1), member 9
Protein EntryABCA9_HUMAN
UniProt IDQ8IUA7
SpeciesHuman
Comments
Comment typeDescription
Alternative Products Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8IUA7-1; Sequence=Displayed; Name=2; Synonyms=ABCA9delta+55; IsoId=Q8IUA7-2; Sequence=VSP_020705; Note=No experimental confirmation available.; Name=3; Synonyms=ABCA9delta+73; IsoId=Q8IUA7-3; Sequence=VSP_020707, VSP_020709; Note=No experimental confirmation available.; Name=4; Synonyms=ABCA9delta-95; IsoId=Q8IUA7-4; Sequence=VSP_020708, VSP_020709; Note=No experimental confirmation available.; Name=5; IsoId=Q8IUA7-5; Sequence=VSP_020706; Note=No experimental confirmation available.;
Developmental Stage Expressed in fetal tissues with higher expression in fetal heart and kidney. {ECO:0000269|PubMed:12150964}.
Function May play a role in monocyte differentiation and lipid homeostasis. {ECO:0000269|PubMed:12150964}.
Induction Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. {ECO:0000269|PubMed:12150964}.
Sequence Caution Sequence=AAH62472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11021.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Similarity Belongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.
Similarity Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular Location Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue Specificity Widely expressed with higher expression in heart. {ECO:0000269|Ref.1}.
Web Resource Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8IUA7";