Version: 8.0.0
Date: Tue Jan 28 2025
OPA1
Homo sapiensHGNC:8140
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

OPA1

Species
Homo sapiens
Symbol
OPA1
Name
OPA1 mitochondrial dynamin like GTPase
Synonyms
  • BERHS
  • dynamin-like 120 kDa protein, mitochondrial
Biotype
protein coding gene
Automated Description
Enables several functions, including GTPase-dependent fusogenic activity; membrane bending activity; and phospholipid binding activity. Involved in several processes, including GTP metabolic process; mitochondrion organization; and negative regulation of apoptotic signaling pathway. Acts upstream of or within mitochondrion organization. Located in cytosol; mitochondrial membrane; and nucleoplasm. Is active in mitochondrial inner membrane and mitochondrial intermembrane space. Implicated in Behr syndrome; dominant optic atrophy plus syndrome; mitochondrial DNA depletion syndrome 14; optic atrophy; and optic atrophy 1. Biomarker of Alzheimer's disease; congestive heart failure; primary open angle glaucoma; and schizophrenia.
RGD Description
The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. 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. [provided by RefSeq, Aug 2017]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11566
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          OPA1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            OPA1 role
            OPA1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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