Recombinant Human Dynamin-like 120 kDa protein, mitochondrial (OPA1), Truncated

Uniprot Id

O60313

Target Species

Human

Target Name

OPA1

Target Full Name

Dynamin-like GTPase OPA1, mitochondrial

Target Function

Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission. Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion. Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes. Plays a role in remodeling cristae and the release of cytochrome c during apoptosis. 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. Plays a role in mitochondrial genome maintenance.; 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.; Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.

Target Involvement

Optic atrophy 1 (OPA1); Dominant optic atrophy plus syndrome (DOA+); Behr syndrome (BEHRS); Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)

Target Subcellular Location

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion intermembrane space. Mitochondrion membrane.

Target Protein Families

TRAFAC class dynamin-like GTPase superfamily, Dynamin/Fzo/YdjA family

Target 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, thyr

Target Synonyms

OPA1; KIAA0567; Dynamin-like 120 kDa protein, mitochondrial; Optic atrophy protein 1

Target Background

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.