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Description for Protein ABCB7

ATP-binding cassette, sub-family B (MDR/TAP), member 7
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05662
    KEGG - Pathway(s):
    hsa02010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ATP binding cassette 7; ABC7; ATP binding cassette transporter 7; ABC transporter 7; ATP-binding cassette, sub-family B, member 7, mitochondrial
    Approved Symbol:
    ABCB7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Anemia, sideroblastic, and spinocerebellar ataxia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 5
    • Additional Identifiers:

    HPRD: 02137 Entrez Gene ID: 22 OMIM ID: 300135 Swissprot Accession: O75027;