UNIPROT #

P00441

PROTEIN NAME

SOD1

SYNONYMS

ALS antibody; ALS1 antibody; Amyotrophic lateral sclerosis 1 adult antibody; Cu/Zn SOD antibody; Cu/Zn superoxide dismutase antibody; Epididymis secretory protein Li 44 antibody; HEL S 44 antibody; Homodimer antibody; hSod1 antibody; Indophenoloxidase A antibody; IPOA antibody; Mn superoxide dismutase antibody; SOD antibody; SOD soluble antibody; SOD1 antibody; SOD2 antibody; SODC antibody; SODC_HUMAN antibody; Superoxide dismutase [Cu-Zn] antibody; Superoxide dismutase 1 antibody; Superoxide dismutase 1 soluble antibody; Superoxide dismutase Cu Zn antibody; Superoxide dismutase cystolic antibody

SEQUENCE SIMILARITIES

Belongs to the Cu-Zn superoxide dismutase family.

POST-TRANSLATIONAL MODIFICATION

Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.; The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.; Palmitoylation helps nuclear targeting and decreases catalytic activity.; Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.

SUBCELLULAR LOCATION

Mitochondrion. Nucleus.

FUNCTION

Cu-Zn superoxide dismutase-1 (SOD-1) is a well characterized cytosolic scavenger of oxygen free radicals that requires copper and zinc binding to potentiate its enzymatic activity. Enzymatically, SOD-1 facilitates the dismutation of oxygen radicals to hydrogen peroxide and also catalyzes pro-oxidant reactions, which include the peroxidase activity and hydroxyl radical generating activity. SOD-1 is ubiquitously expressed in somatic cells and functions as a homodimer. Defects in the gene encoding SOD-1 have been implicated in the progression of neurological diseases, including amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by the loss of spinal motor neurons, Down syndrome and Alzheimer's disease. In familial ALS, several mutations in SOD-1 predominate, resulting in the loss of zinc binding, the loss of scavenging activity of SOD-1, and correlate with an increase in neurotoxicity and motor neuron death.