SOD1

Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

SOD1 Related Areas

Cancer>>Apoptosis>>Oxidative Stress>>SOD1/Cu/Zn-SOD

Enzyme>>Oxidoreductase>>SOD1/Cu/Zn-SOD

SOD1 Alternative Names

SOD1, ALS, ALS1, IPOA, SOD, homodimer [Homo sapiens]
Sod1, B430204E11Rik, Cu/Zn-SOD, CuZnSOD, Ipo-1, Ipo1, MGC107553, SODC, Sod-1 [Mus musculus]

Summaries for SOD1

Entrez Gene summary for SOD1:

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.

OMIM - description for SOD1:

The SOD1 gene encodes superoxide dismutase-1 (EC 1.15.1.1), a major cytoplasmic antioxidant enzyme that metabolizes superoxide radicals to molecular oxygen and hydrogen peroxide, thus providing a defense against oxygen toxicity (Niwa et al., 2007). Soluble cytoplasmic SOD1 is a copper- and zinc-containing enzyme; the SOD1 gene maps to chromosome 21q22 (Sherman et al., 1983). SOD2 (147460) is a distinct mitochondrial enzyme that contains manganese; the SOD2 gene maps to 6q25. SOD1 is a homodimer and SOD2 a tetramer (Beckman et al., 1973).

Wikipedia summary for SOD1:

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene. SOD1 is one of three human superoxide dismutases.

Human SOD1 Protein General Information

 

• Protein names: Recommended name: Superoxide dismutase [Cu-Zn]
  Short name: SOD1
• Sequence length: 154 AA
• 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 reponsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
• Subunit structure: 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.
• Subcellular location: Cytoplasm. Note: The pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.
• Involvement in disease: Defects in SOD1 are the cause of amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]. ALS1 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms.

General information above from UniProt

Function for SOD1 Protein

UniProtKB:

Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Genatlas:

• SOD1 role in human placenta development (Pubmed 12485882)
• catabolic pathway of activated oxygen species,free radical detoxification
• SOD1 may play a role in the regulation of cellular lifespan by p53 and may also regulate the death signals in cancer cells (Pubmed 12871978)
• SOD1 is involved in the function of motor neuron
• SOD1 isan important biological role for this enzyme in the preservation of mitochondrial homeostasis

Homology for human SOD1

• homolog to sod1, Danio rerio
• ortholog to Sod1, Mus musculus
• ortholog to SOD1, Pan troglodytes
• ortholog to Sod1, rattus norvegicus

Phenotype Information for SOD1

• Gene/Locus: SOD1, ALS1
• Phenotype: Amyotrophic lateral sclerosis, due to SOD1 deficiency

Phenotype Information for SOD1 from OMIM (Online Mendelian Inheritance in Man)

Drugs for SOD1

Target	Drug Name	Disease	Drug Status
SOD1	Anti-Factor D	Geographic atrophy associated with age-related macular degeneration	Phase I/II

Drugs for SOD1 from TTD (Therapeutic Targets Database)