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    OPA3 OPA3, outer mitochondrial membrane lipid metabolism regulator [ Homo sapiens (human) ]

    Gene ID: 80207, updated on 12-Mar-2017
    Official Symbol
    OPA3provided by HGNC
    Official Full Name
    OPA3, outer mitochondrial membrane lipid metabolism regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:8142
    See related
    Ensembl:ENSG00000125741 MIM:606580; Vega:OTTHUMG00000182125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGA3
    Summary
    The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    19q13.32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45527767..45584864, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46031025..46088122, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985314 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene uncharacterized LOC107985315 Neighboring gene vasodilator-stimulated phosphoprotein Neighboring gene G protein-coupled receptor 4 Neighboring gene echinoderm microtubule associated protein like 2 Neighboring gene microRNA 330

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22187, FLJ25932, MGC75494

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    growth IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    optic atrophy 3 protein
    Names
    Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
    optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013332.1 RefSeqGene

      Range
      5001..62098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017989.2NP_001017989.2  optic atrophy 3 protein isoform a

      See identical proteins and their annotated locations for NP_001017989.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site resulting in a distinct 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (a) has a longer and distinct C-terminus, compared to isoform b.
      Source sequence(s)
      AC006117, BC047316, DB034102
      Consensus CDS
      CCDS33052.1
      UniProtKB/Swiss-Prot
      Q9H6K4
      Related
      ENSP00000319817, OTTHUMP00000268460, ENST00000323060, OTTHUMT00000459600
      Conserved Domains (1) summary
      pfam07047
      Location:9126
      OPA3; Optic atrophy 3 protein (OPA3)
    2. NM_025136.3NP_079412.1  optic atrophy 3 protein isoform b

      See identical proteins and their annotated locations for NP_079412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript but encodes the shorter isoform (b).
      Source sequence(s)
      AC006261, BC005059, BU617706, DB034102
      Consensus CDS
      CCDS12668.1
      UniProtKB/Swiss-Prot
      Q9H6K4
      Related
      ENSP00000263275, OTTHUMP00000268461, ENST00000263275, OTTHUMT00000459601
      Conserved Domains (1) summary
      pfam07047
      Location:9126
      OPA3; Optic atrophy 3 protein (OPA3)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      45527767..45584864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723403.3XP_006723466.1  optic atrophy 3 protein isoform X1

      See identical proteins and their annotated locations for XP_006723466.1

      UniProtKB/TrEMBL
      B4DK77
      Related
      ENSP00000442839, OTTHUMP00000268462, ENST00000544371, OTTHUMT00000459602
      Conserved Domains (1) summary
      pfam07047
      Location:173
      OPA3; Optic atrophy 3 protein (OPA3)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      46034268..46091400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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