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Description for Protein BEST1

bestrophin 1
4 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13878
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Macular dystrophy vitelliform; Vitelliform macular dystrophy protein; BMD; Macular degeneration polymorphic vitelline; TU15B
    Approved Symbol:
    BEST1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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:

  • Best macular dystrophy(Pd);
  • Maculopathy, bull's-eye(Pd);
  • Vitelliform macular dystrophy, adult-onset(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 3
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 01094 Entrez Gene ID: 7439 OMIM ID: 607854 Swissprot Accession: O76090;