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Comments and Description Text from UniProtKB
ID:OPA1_HUMAN DESCRIPTION: RecName: Full=Dynamin-like 120 kDa protein, mitochondrial; AltName: Full=Optic atrophy protein 1; Contains: RecName: Full=Dynamin-like 120 kDa protein, form S1; Flags: Precursor; 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. FUNCTION: 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. SUBUNIT: Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms. Binds PARL (By similarity). INTERACTION: Q12983:BNIP3; NbExp=10; IntAct=EBI-1054131, EBI-749464; SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space. 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. PTM: PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions. DISEASE: Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) [MIM:165500]. OPA1 is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness. DISEASE: Defects in OPA1 are the cause of 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. SIMILARITY: Belongs to the dynamin family. SEQUENCE CAUTION: Sequence=AF416919; Type=Miscellaneous discrepancy; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA1";
ModBase Predicted Comparative 3D Structure on O60313
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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