Superoxide Dismutase (SOD) 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: EC 1.15.1.1; Oxidoreductase; Apoptosis; Mitochondrial; Nuclear receptor co-regulator

Chromosomal Location of Human Ortholog: 21q22.11

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

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

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

Disease: Amyotrophic Lateral Sclerosis 1