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FLASH GENE
Symbol OPA3 contributors: mct/npt/shn - updated : 03-05-2011
HGNC name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
HGNC id 8142
Corresponding disease
OPA3 optic atrophy 3
Location 19q13.32      Physical location : 46.031.026 - 46.088.122
Synonym name optic atrophy 3 protein
Synonym symbol(s) MGA3, FLJ22187, FLJ25932, MGC75494
DNA
TYPE functioning gene
STRUCTURE 57.10 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D19S908 - D19S219 - OPA3 OPA3 - D19S412 - D19S606 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 7889 - 179 low expression in brain Fink (2006), Huizing (2010)
  • OPA3A with exon 1 and 2
  • OPA3A deficiency results in overexpression of OPA3B
  • does not localize to peroxisomes
  • 2 - 1962 - 180 high expression in testis Fink (2006), Huizing (2010)
  • OPA3B with exon 1 and 3
  • lower expression levels than OPA3A, and uniquely found in mammals
  • significantly up-regulated in OPA3A deficient cells
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   highly Homo sapiens
    Endocrinepancreas   highly Homo sapiens
    Nervousbrain   moderately Homo sapiens
    Reproductivefemale systemplacenta  highly Homo sapiens
     male systemtestis  highly Homo sapiens
    Respiratorylung   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • putative mitochondrial N-terminal targeting signal, NRIKE
  • C terminal SKK motif, and peroxisomal C-terminal sorting signals
  • (Huizing 2010)
    secondary structure alpha helix, extended strand, beta helix
    HOMOLOGY
    interspecies ortholog to Opa3, mus musculus
    ortholog to OPA3, Pan troglodytes
    ortholog to opa3, danio rerio
    ortholog to Opa3, Rattus norvegicus
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • required for mitochondria to limit HMG-CoA-derived 3-methylglutaconic acid and protect the electron transport chain against inhibitory compounds
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPA3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice carrying a missense mutation in the OPA3 gene develope multi-system organ failure with cachexia, dilated cardiomyopathy, extrapyramidal features, and a reduced lifespan of less than 4 months. These mice have severely impaired visual function, and although all the retinal layers are affected, cell loss is much more prominent within the retinal ganglion cells layer
  • zebrafish with opa3 null allele have increased 3-methylglutaconic acid levels, optic nerve deficits, ataxia and an extrapyramidal movement disorder. Opa3 mutants have normal mitochondrial oxidative phosphorylation profiles, but are sensitive to inhibitors of the electron transport chain