Version 5.4
Homo sapiens Gene: OPA3
Summary
InnateDB Gene IDBG-57748.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OPA3
Gene Name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000125741
Encoded Proteins
IDBP-57750
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
IDBP-57752
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
IDBP-587017
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:45527427-45602212
Strand Reverse strand
Band q13.32
Transcripts
ENST00000323060 ENSP00000319817
ENST00000263275 ENSP00000263275
ENST00000544371 ENSP00000442839
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0019216 regulation of lipid metabolic process
GO:0040007 growth
GO:0050896 response to stimulus
GO:0050905 neuromuscular process
GO:0070584 mitochondrion morphogenesis
Cellular Component
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000052214
View Gene Order
ENSBTAG00000019605
Not yet available
Cross-References
SwissProt
TrEMBL B4DK77
UniProt Splice Variant
Entrez Gene 80207
UniGene Hs.466945 Hs.608015
RefSeq NM_001017989 NM_025136 XM_005259278 XM_006723403
HUGO HGNC:8142
OMIM 606580
CCDS CCDS12668 CCDS33052
HPRD 05956
IMGT
EMBL AC006117 AC006261 AC011480 AK296429
GenPept BAG59089
RNA Seq Atlas 80207

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca