MitoProteome Database

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MT000002

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family B (MDR/TAP), member 7
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75027-1; Sequence=Displayed; Name=2; IsoId=O75027-2; Sequence=VSP_014635; Name=3; IsoId=O75027-3; Sequence=VSP_054700; Note=No experimental confirmation available. Gene prediction based on EST data.;
Disease	Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. {ECO:0000269\|PubMed:10196363, ECO:0000269\|PubMed:11050011, ECO:0000269\|PubMed:11843825, ECO:0000269\|PubMed:22398176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.
Similarity	Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO:0000305}.
Similarity	Contains 1 ABC transmembrane type-1 domain. {ECO:0000255\|PROSITE-ProRule:PRU00441}.
Similarity	Contains 1 ABC transporter domain. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255\|PROSITE- ProRule:PRU00441}.
Subunit	Homodimer or heterodimer. {ECO:0000305}.
Web Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O75027";