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

    Gene ID: 80207, updated on 5-Mar-2024

    Summary

    Official Symbol
    OPA3provided by HGNC
    Official Full Name
    outer mitochondrial membrane lipid metabolism regulator OPA3provided by HGNC
    Primary source
    HGNC:HGNC:8142
    See related
    Ensembl:ENSG00000125741 MIM:606580; AllianceGenome:HGNC:8142
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 3.0), heart (RPKM 2.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OPA3 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45527427..45584802, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48354701..48412074, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46030685..46088060, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46010402-46011186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10779 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene uncharacterized LOC107985315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46025801-46026353 Neighboring gene vasodilator stimulated phosphoprotein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46056279-46056909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46056910-46057539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46061287-46061787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46065110-46065908 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46066707-46067504 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46067505-46068302 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:46080520-46081155 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46084233-46084733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46085233-46086168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46086169-46087104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46100634-46101271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46101272-46101908 Neighboring gene G protein-coupled receptor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46119367-46120205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46120206-46121043 Neighboring gene EMAP like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46130698-46131198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46141481-46142332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46142333-46143184 Neighboring gene microRNA 330

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    3-Methylglutaconic aciduria type 3
    MedGen: C0574084 OMIM: 258501 GeneReviews: Costeff Syndrome
    Compare labs
    Optic atrophy 3
    MedGen: C1833809 OMIM: 165300 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22187, FLJ25932, MGC75494

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    optic atrophy 3 protein
    Names
    3-methylglutaconic aciduria type III
    OPA3 outer mitochondrial membrane lipid metabolism regulator
    Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
    optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5063..43584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017989.3NP_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
      ENSP00000319817.3, ENST00000323060.4
      Conserved Domains (1) summary
      pfam07047
      Location:6129
      OPA3; Optic atrophy 3 protein (OPA3)
    2. NM_025136.4NP_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
      Q6P384, Q8N784, Q9H6K4
      Related
      ENSP00000263275.4, ENST00000263275.5
      Conserved Domains (1) summary
      pfam07047
      Location:6126
      OPA3; Optic atrophy 3 protein (OPA3)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45527427..45584802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723403.5XP_006723466.1  optic atrophy 3 protein isoform X1

      See identical proteins and their annotated locations for XP_006723466.1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48354701..48412074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322228.1XP_054178203.1  optic atrophy 3 protein isoform X1

      UniProtKB/TrEMBL
      B4DK77