OPA1 Gene Summary [Human]
The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. 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. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | OPA1 |
| Official Name | OPA1 mitochondrial dynamin like GTPase [Source:HGNC Symbol;Acc:HGNC:8140] |
| Ensembl ID | ENSG00000198836 |
| Bio databases IDs | |
| Aliases | OPA1 mitochondrial dynamin like GTPase, mitochondrial dynamin-like GTPase, dynamin-like guanosine triphosphatase, Dynamin-like 120 kDa protein, mitochondrial |
| Synonyms | 1200011N24Rik, BERHS, largeG, lilr3, LOC100046998, LOC171116, MGM1, mKIAA0567, MTDPS14, NPG, NTG, Opa1/mgm1, OPA1 mitochondrial dynamin like GTPase, OPA1, mitochondrial dynamin like GTPase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human OPA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- mitochondrial presequence
- Dynamin-like GTPase OPA1 C-terminal
- mitochondrial processing peptidase site
- GTPase
- enzyme
- protein binding
- cleavage site
- Dynamin family
- GTP binding
- kinase binding
- binding protein
- transmembrane domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the OPA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- optic atrophy
- breast cancer
- optic atrophy 1
- retinal dystrophy
- dominant optic atrophy plus syndrome
- mitochondrial DNA depletion syndrome-14
- auditory neuropathy
- hereditary disorder
- centronuclear myopathy
- OPA1-related optic atrophy with or without extraocular features
role in cell
- expression in
- apoptosis
- proliferation
- cell death
- production in
- phosphorylation in
- quantity
- formation
- accumulation in
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- endoplasmic reticulum mitochondria contact site
- Mitochondria
- cytosol
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- nucleoplasm
- neurites
- perikaryon
- dendrites
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OPA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane fusion
- cristae formation
- negative regulation of release of cytochrome c from mitochondria
- mitochondrial fusion
- cellular senescence
- GTP metabolic process
- inner mitochondrial membrane organization
- visual perception
- mitochondrion organization
- mitochondrial genome maintenance
- mitochondrial fission
- neural tube closure
- negative regulation of apoptotic process
- apoptotic process
- positive regulation of interleukin-17 production
- axon transport of mitochondrion
- positive regulation of T-helper 17 cell lineage commitment
- protein oligomerization
Cellular Component
Where in the cell the gene product is active
- mitochondrial crista
- mitochondrial outer membrane
- mitochondrial inner membrane
- microtubule
- nucleoplasm
- dendrite
- mitochondrial intermembrane space
- mitochondrial membrane
- cytoplasm
- membrane
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- GTP binding
- protein binding
- GTPase activity
- phosphatidic acid binding
- microtubule binding