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

Gene ID: 80207, updated on 20-Apr-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

  • 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 Jun 15 11:32:44 2016

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
    ENSP00000319817.3, OTTHUMP00000268460, ENST00000323060.3, 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
    ENSP00000263275.3, OTTHUMP00000268461, ENST00000263275.4, 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
    ENSP00000442839.1, OTTHUMP00000268462, ENST00000544371.1, 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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