InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OPA1

Summary

InnateDB Protein

IDBP-70076.7

Last Modified

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

Gene Symbol

OPA1

Protein Name

optic atrophy 1 (autosomal dominant)

Synonyms

largeG; MGM1; NPG; NTG;

Species

Homo sapiens

Ensembl Protein

ENSP00000354681

InnateDB Gene

IDBG-70072 (OPA1)

Protein Structure

UniProt Annotation

Function

Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space.Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.

Subcellular Localization

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space.

Disease Associations

Optic atrophy 1 (OPA1) [MIM:165500]: 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. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. {ECO:0000269PubMed:11017079, ECO:0000269PubMed:11017080, ECO:0000269PubMed:11440988, ECO:0000269PubMed:11440989, ECO:0000269PubMed:11810270, ECO:0000269PubMed:12036970, ECO:0000269PubMed:12566046, ECO:0000269PubMed:14961560, ECO:0000269PubMed:15948788, ECO:0000269PubMed:16513463, ECO:0000269PubMed:16617242, ECO:0000269PubMed:19319978, ECO:0000269PubMed:19325939, ECO:0000269PubMed:22382025}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues. {ECO:0000269PubMed:11017079, ECO:0000269PubMed:11017080, ECO:0000269PubMed:11810270}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding

Biological Process

GO:0000266	mitochondrial fission
GO:0001843	neural tube closure
GO:0006184	GTP catabolic process
GO:0006915	apoptotic process
GO:0007005	mitochondrion organization
GO:0007007	inner mitochondrial membrane organization
GO:0007601	visual perception
GO:0008053	mitochondrial fusion
GO:0019896	axon transport of mitochondrion
GO:0090201	negative regulation of release of cytochrome c from mitochondria
GO:0090398	cellular senescence
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway

Cellular Component

GO:0005739	mitochondrion
GO:0005741	mitochondrial outer membrane
GO:0005743	mitochondrial inner membrane
GO:0005758	mitochondrial intermembrane space
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030061	mitochondrial crista
GO:0030425	dendrite