InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OPA3

Summary

InnateDB Protein

IDBP-57750.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OPA3

Protein Name

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000319817

InnateDB Gene

IDBG-57748 (OPA3)

Protein Structure

UniProt Annotation

Function

May play some role in mitochondrial processes.

Subcellular Localization

Mitochondrion {ECO:0000305}.

Disease Associations

3-methylglutaconic aciduria 3 (MGA3) [MIM:258501]: A metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels. {ECO:0000269PubMed:11668429}. Note=The disease is caused by mutations affecting the gene represented in this entry.Optic atrophy 3 (OPA3) [MIM:165300]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. {ECO:0000269PubMed:15342707}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Most prominent expression in skeletal muscle and kidney. {ECO:0000269PubMed:11668429}.

Comments

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