SOD1

GeneName

SOD1

Summary

SOD1, also known as superoxide dismutase 1, SOD-1, or hSOD1, is a 16 kDa cytosolic enzyme that plays a crucial role in protecting cells from oxidative stress by catalysing the dismutation of superoxide radicals into oxygen and hydrogen peroxide. It is primarily expressed in the cytoplasm and is found in various cellular compartments including the nucleus, mitochondria, and extracellular space. SOD1 is involved in numerous biological processes such as neuronal action potential, regulation of blood pressure, and the apoptotic process, contributing to cellular homeostasis and response to oxidative stress.

Importance

SOD1 is relevant to: - Neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS), where mutations in SOD1 lead to toxic gain of function and neuronal death. - Oxidative stress research, as it is a key enzyme in the detoxification of superoxide radicals, influencing cellular health and longevity. - Studies on mitochondrial function and dynamics, given its presence in mitochondrial compartments and role in regulating oxidative stress. - Investigations into the immune response and inflammation, due to its involvement in the regulation of cytokine production and inflammatory processes.

Top Products

For researchers investigating SOD1, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-Superoxide Dismutase 1 antibody (ab13498), which has garnered 221 citations, reflecting its strong reputation in the field. This antibody is particularly effective for Western blotting (WB), making it a reliable choice for protein detection.In addition, we offer the recombinant antibody, Anti-Superoxide Dismutase 1 antibody [EP1727Y] (ab51254). This product has been validated in knockout models and is suitable for a broader range of applications, including WB, immunohistochemistry (IHC), immunocytochemistry (ICC), and flow cytometry (FC). With 70 citations, it is also gaining traction among researchers. The recombinant nature of this antibody ensures batch-to-batch consistency, making it an excellent option for those requiring dependable SOD1 detection. The Anti-Superoxide Dismutase 1 antibody ELISA Kit (ab13498), with 221 citations, is an excellent option for researchers looking to accurately measure SOD1 levels in their samples.

Abcam Product Citation Summary

The data indicates a diverse range of studies involving SOD1, primarily focusing on its expression and activity in various species, including humans and mice. The applications predominantly utilise Western blotting, highlighting the importance of SOD1 in contexts such as oxidative stress, cancer, and neurodegenerative diseases. The studies span different biological contexts, from serum analysis to tissue samples, suggesting SOD1's relevance in both health and disease.

Abcam Product Citation Table

Function

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

Involvement in disease

Amyotrophic lateral sclerosis 1

ALS1

A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. 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 the cases.

None

The disease is caused by variants affecting the gene represented in this entry.

Spastic tetraplegia and axial hypotonia, progressive

STAHP

An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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.

Sequence Similarities

Belongs to the Cu-Zn superoxide dismutase family.

Cellular localization

• Cytoplasm
• Nucleus
• Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.

Alternative names

Superoxide dismutase [Cu-Zn], Superoxide dismutase 1, hSod1, SOD1

Database links

swissprot:P00441 swissprot:P04040 entrezGene:7295 entrezGene:6647 entrezGene:59 entrezGene:847 swissprot:P62736 omim:11500 swissprot:P10599 omim:187700 omim:147450 omim:102620