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Description for Protein OPA1

optic atrophy 1 (autosomal dominant)
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(platelet: 8)
Summary:
This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • DYNC: Dynamin, GTPase
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Optic atrophy 1; Optic atrophy 1 isoform 7; Optic atrophy 1 isoform 6; Optic atrophy 1 isoform 5; Optic atrophy 1 isoform 4; Optic atrophy 1 isoform 1; Optic atrophy 1 isoform 3; Optic atrophy 1 isoform 2; Optic atrophy 1 isoform 8
    Approved Symbol:
    OPA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 20
    Human (de-) phosphorylation sites: 20; 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:

  • Glaucoma, normal tension, susceptibility to(Pd);
  • Optic atrophy 1(Pd);
  • Optic atrophy 1 with deafness(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05596 Entrez Gene ID: 4976 OMIM ID: 605290 Swissprot Accession: O60313;