InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: OPA1

Summary

InnateDB Gene

IDBG-70072.6

Last Modified

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

Gene Symbol

OPA1

Gene Name

optic atrophy 1 (autosomal dominant)

Synonyms

largeG; MGM1; NPG; NTG

Species

Homo sapiens

Ensembl Gene

ENSG00000198836

Encoded Proteins

IDBP-70074

optic atrophy 1 (autosomal dominant)

IDBP-70076

optic atrophy 1 (autosomal dominant)

IDBP-70078

optic atrophy 1 (autosomal dominant)

IDBP-70080

optic atrophy 1 (autosomal dominant)

IDBP-70082

optic atrophy 1 (autosomal dominant)

IDBP-245655

optic atrophy 1 (autosomal dominant)

IDBP-245657

optic atrophy 1 (autosomal dominant)

IDBP-245659

optic atrophy 1 (autosomal dominant)

IDBP-386759

optic atrophy 1 (autosomal dominant)

IDBP-386760

optic atrophy 1 (autosomal dominant)

IDBP-386761

optic atrophy 1 (autosomal dominant)

IDBP-386763

optic atrophy 1 (autosomal dominant)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:193593144-193697823

Strand

Forward strand

Band

q29

Transcripts

ENST00000361510	ENSP00000355324
ENST00000361908	ENSP00000354681
ENST00000361715	ENSP00000355311
ENST00000361828	ENSP00000354429
ENST00000361150	ENSP00000354781
ENST00000392438	ENSP00000376233
ENST00000392437	ENSP00000376232
ENST00000392436	ENSP00000376231
ENST00000419435	ENSP00000399877
ENST00000434811	ENSP00000409084
ENST00000445863	ENSP00000398358
ENST00000429164	ENSP00000411699
ENST00000487986
ENST00000497189
ENST00000495476
ENST00000475899
ENST00000483516
ENST00000482865
ENST00000495261

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000038084

View Gene Order

ENSBTAG00000019514

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.594504 Hs.732456 Hs.743613

RefSeq

NM_015560 NM_130831 NM_130832 NM_130833 NM_130834 NM_130835 NM_130836 NM_130837

HUGO

OMIM

CCDS

CCDS33917 CCDS43186

HPRD

05596

IMGT

EMBL

GenPept

RNA Seq Atlas