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Literature summary for 3.6.5.5 extracted from
- The dynamin GTPase OPA1: more than mitochondria? (2013), Biochim. Biophys. Acta, 1833, 176-183.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | recombinant short isoform of OPA1 (discussed below) assembles into higher order oligomers on the surface of cardiolipin-containing liposomes | Homo sapiens |
| OPA1Q285STOP | naturally occuring mutation, heterozygous mutant mice, carrying either a premature stop codon (OPA1Q285STOP/+) or an in-frame deletion of 27 amino acids (OPA1Q329-355del/+) in the GTPase domain, are based on haploinsufficiency since both models show a 50% reduction in OPA1 protein expression | Mus musculus |
| Q329-355del | naturally occuring mutation, heterozygous mutant mice, carrying either a premature stop codon (OPA1Q285STOP/+) or an in-frame deletion of 27 amino acids (OPA1Q329-355del/+) in the GTPase domain, are based on haploinsufficiency since both models show a 50% reduction in OPA1 protein expression | Mus musculus |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| mitochondrion | anchored to the inner membrane | Mus musculus | 5739 | - |
| mitochondrion | anchored to the inner membrane | Homo sapiens | 5739 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| GTP + H2O | Mus musculus | - |
GDP + phosphate | - |
? |  |
| GTP + H2O | Homo sapiens | - |
GDP + phosphate | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | O60313 | - |
- |
| Mus musculus | P58281 | - |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| GTP + H2O | - |
Mus musculus | GDP + phosphate | - |
? | |
| GTP + H2O | - |
Homo sapiens | GDP + phosphate | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| dynamin GTPase | - |
Mus musculus |
| dynamin GTPase | - |
Homo sapiens |
| dynamin-like GTPase | - |
Mus musculus |
| dynamin-like GTPase | - |
Homo sapiens |
| dynamin-like guanosine-triphosphate hydrolase | - |
Mus musculus |
| dynamin-like guanosine-triphosphate hydrolase | - |
Homo sapiens |
| OPA1 | - |
Mus musculus |
| OPA1 | - |
Homo sapiens |
| optic atrophy 1 | - |
Mus musculus |
| optic atrophy 1 | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| evolution | the OPA1 gene encodes a mitochondrial protein that belongs to the dynamins family, with which it shares three conserved regions: a GTPase domain, a middle domain, and a GTPase effector domain (GED) containing a coiled-coil domain (CC2), overview | Mus musculus |
| evolution | the OPA1 gene encodes a mitochondrial protein that belongs to the dynamins family, with which it shares three conserved regions: a GTPase domain, a middle domain, and a GTPase effector domain (GED) containing a coiled-coil domain (CC2), overview | Homo sapiens |
| malfunction | mutations in OPA1 are responsible for type 1 dominant optic atrophy (ADOA1), alterations of mitochondrial distribution and morphology contribute to ADOA1 pathogenesis, physiopathological relevance, overview. In addition to mitochondrial fragmentation, downregulation of OPA1 increases cell sensitivity to spontaneous and induced apoptosis. Enzyme overexpression by inhibiting cytochrome c release, protects cells from apoptosis induced by intrinsic stimuli. Haploinsufficiency is the main pathomechanism in ADOA1 | Homo sapiens |
| malfunction | silencing of OPA1 reduces induced lipolysis within the differentiated adipocytes | Mus musculus |
| metabolism | the small group of dynamin-like GTPases (Guanosine-Triphosphate hydrolase) as central regulators of mitochondrial morphology and cristae remodeling, apoptosis, calcium signaling, and metabolism | Homo sapiens |
| metabolism | the small group of dynamin-like GTPases as central regulators of mitochondrial morphology and cristae remodeling, apoptosis, calcium signaling, and metabolism | Mus musculus |
| additional information | detailed structure-function analysis of human OPA1 enzyme, overview | Homo sapiens |
| physiological function | OPA1 mediates adrenergic control of lipolysis by functioning as a cytosolic A-kinase anchoring protein (AKAP), on the hemimembrane that envelops the lipid droplet. Enzyme is OPA1 a regulator of mitochondrial inner membrane fusion and cristae remodeling, role of OPA1 in mtDNA maintenance and mitochondrial energetics. Enzyme regulation, m-AAA protease controls both cleavage and turn-over of OPA1, OMA1 is activated upon attenuation of its proteolytic degradation, overview | Homo sapiens |
| physiological function | OPA1 mediates adrenergic control of lipolysis by functioning as a cytosolic A-kinase anchoring protein (AKAP), on the hemimembrane that envelops the lipid droplet. Enzyme is OPA1 a regulator of mitochondrial inner membrane fusion and cristae remodeling, role of OPA1 in mtDNA maintenance and mitochondrial energetics. Enzyme regulation, m-AAA protease controls both cleavage and turnover of OPA1, OMA1 is activated upon attenuation of its proteolytic degradation, overview | Mus musculus |
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