Gene
opa1
- ID
- ZDB-GENE-041114-7
- Name
- OPA1 mitochondrial dynamin like GTPase
- Symbol
- opa1 Nomenclature History
- Previous Names
-
- fk62d06
- wu:fb77a10
- wu:fk62d06
- zgc:92092
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activity; microtubule binding activity; and phospholipid binding activity. Acts upstream of or within chordate embryonic development; mitochondrion morphogenesis; and ventricular cardiac muscle cell development. Predicted to be located in mitochondrial inner membrane and mitochondrial intermembrane space. Predicted to be active in microtubule and mitochondrial membrane. Is expressed in retina. Human ortholog(s) of this gene implicated in Behr syndrome; dominant optic atrophy plus syndrome; mitochondrial DNA depletion syndrome 14; optic atrophy; and optic atrophy 1. Orthologous to human OPA1 (OPA1 mitochondrial dynamin like GTPase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 18 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Behr syndrome | Alliance | Behr syndrome | 210000 |
dominant optic atrophy plus syndrome | Alliance | Optic atrophy plus syndrome | 125250 |
mitochondrial DNA depletion syndrome 14 | Alliance | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | 616896 |
optic atrophy 1 | Alliance | Optic atrophy 1 | 165500 |
{Glaucoma, normal tension, susceptibility to} | 606657 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001401 | Dynamin, GTPase domain |
Domain | IPR030381 | Dynamin-type guanine nucleotide-binding (G) domain |
Domain | IPR045063 | Dynamin, N-terminal |
Domain | IPR045817 | Dynamin-like GTPase OPA1, C-terminal |
Family | IPR022812 | Dynamin |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
Protein | Length | Dynamin | Dynamin, GTPase domain | Dynamin-like GTPase OPA1, C-terminal | Dynamin, N-terminal | Dynamin-type guanine nucleotide-binding (G) domain | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M6Z7B4
|
1033 | ||||||
UniProtKB:A0A8M9Q626
|
982 | ||||||
UniProtKB:Q5U3A7
|
966 | ||||||
UniProtKB:A0A8M9QFC7
|
911 | ||||||
UniProtKB:A0A8M9QFC3
|
1034 | ||||||
UniProtKB:A0A8M9PM18
|
1018 | ||||||
UniProtKB:A0A8M9PZN8
|
1017 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab2-opa1 | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
2 | |
Ab3-opa1 | monoclonal | IgG1 | Mouse |
|
BD Biosciences
|
3 |
Plasmids
No data available