Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein ABCA4

ATP-binding cassette, sub-family A (ABC1), member 4
1 total 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • AAA: ATPases associated with a variety of cellular activities
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05644
    KEGG - Pathway(s):
    hsa02010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ATP binding cassette subfamily A, member 4; ABC transporter; ATP binding cassette transporter retina specific; ABCR; RIM protein; RIM ABC transporter; RMP
    Approved Symbol:
    ABCA4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Cone-rod dystrophy 3(Pd);
  • Fundus flavimaculatus(Pd);
  • Macular degeneration, age-related, 2(Pd);
  • Retinitis pigmentosa 19(Pd);
  • Stargardt disease(Pd);
  • Stargardt disease 1(Pd)
    		• Predicted Transmembrane Domains:
    03408_1(11)
    Additional Identifiers:

    HPRD: 03408 Entrez Gene ID: 24 OMIM ID: 601691 Swissprot Accession: P78363; Q6AI28;