Superoxide Dismutase [Cu-Zn] Protein (SOD1) Human Active Protein

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]

SOD1: Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not. Belongs to the Cu-Zn superoxide dismutase family.

Protein type: Apoptosis; EC 1.15.1.1; Mitochondrial; Nuclear receptor co-regulator; Oxidoreductase

Chromosomal Location of Human Ortholog: 21q22.11

Cellular Component: cell soma; cytoplasm; cytoplasmic vesicle; cytosol; dendrite cytoplasm; extracellular matrix; extracellular region; extracellular space; mitochondrial intermembrane space; mitochondrion; nucleoplasm; nucleus; peroxisome; plasma membrane; protein complex

Molecular Function: chaperone binding; copper ion binding; identical protein binding; protein binding; protein phosphatase 2B binding; Rac GTPase binding; superoxide dismutase activity; zinc ion binding

Biological Process: activation of MAPK activity; anterograde axon cargo transport; auditory receptor cell stereocilium organization and biogenesis; cell aging; cellular iron ion homeostasis; embryo implantation; glutathione metabolic process; heart contraction; hydrogen peroxide biosynthetic process; locomotory behavior; muscle maintenance; myelin maintenance in the peripheral nervous system; myeloid cell homeostasis; negative regulation of cholesterol biosynthetic process; negative regulation of neuron apoptosis; neurofilament cytoskeleton organization and biogenesis; ovarian follicle development; platelet degranulation; positive regulation of apoptosis; positive regulation of catalytic activity; positive regulation of cytokine production; positive regulation of superoxide release; regulation of blood pressure; regulation of GTPase activity; regulation of mitochondrial membrane potential; regulation of multicellular organism growth; regulation of protein kinase activity; relaxation of vascular smooth muscle; removal of superoxide radicals; response to axon injury; response to drug; response to ethanol; response to heat; response to hydrogen peroxide; response to organic substance; response to superoxide; retinal homeostasis; retrograde axon cargo transport; sensory perception of sound; spermatogenesis; superoxide metabolic process; transmission of nerve impulse

Disease: Amyotrophic Lateral Sclerosis 1