SOD1 Gene Summary [Human]
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. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. 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 2020]
Details
| Type | Protein Coding |
| Official Symbol | SOD1 |
| Official Name | superoxide dismutase 1 [Source:HGNC Symbol;Acc:HGNC:11179] |
| Ensembl ID | ENSG00000142168 |
| Bio databases IDs | |
| Aliases | superoxide dismutase 1 |
| Synonyms | ALS, ALS1, B430204E11Rik, Cu/Zn-SOD, CuZn-SOD, czSOD, HEL-S-44, hSod1, Ipo-1, IPOA, SOD, SOD1L1, SODC, STAHP, superoxide dismutase 1, superoxide dismutase 1, soluble |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme binding
- enzyme
- protein binding
- identical protein binding
- superoxide dismutase
- metal binding domain
- DERL1 binding domain
- copper ion binding
- zinc ion binding
- protein phosphatase 2B binding
- copper binding domain
- protein homodimerization
- chaperone binding
- Copper/zinc superoxide dismutase (SODC)
- Cu-Zn_Superoxide_Dismutase
Pathways
Biological processes and signaling networks where the SOD1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- muscle weakness
- epithelial cancer
- epithelial neoplasia
- cancer
- neoplasia
- paralysis
- diabetes mellitus
- pathological denervation
- breast cancer
role in cell
- expression in
- growth
- cell viability
- phosphorylation in
- number
- production in
- activation
- activation in
- loss
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- myelin enriched fraction
- mitochondrial fraction
- extracellular vesicles
- Extracellular Space
- Nucleus
- Plasma Membrane
- centrosome
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cytoplasmic aggregates
- cytosol
- microsome
- mitochondrial intermembrane space
- nucleoplasm
- photoreceptor outer segments
- cytoplasmic vesicles
- rough endoplasmatic reticulum
- peroxisomes
- secretory granules
- perikaryon
- dendrites
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- auditory receptor cell stereocilium organization
- heart contraction
- determination of adult lifespan
- relaxation of vascular smooth muscle
- negative regulation of developmental process
- response to axon injury
- sensory perception of sound
- cellular iron ion homeostasis
- regulation of mitochondrial membrane potential
- apoptotic process
- peripheral nervous system myelin maintenance
- germ cell programmed cell death
- regulation of protein kinase activity
- negative regulation of inflammatory response
- regulation of organ growth
- response to hydrogen peroxide
- response to superoxide
- superoxide metabolic process
- negative regulation of cholesterol biosynthetic process
- positive regulation of catalytic activity
- removal of superoxide radicals
- regulation of GTPase activity
- gene expression
- negative regulation of reproductive process
- positive regulation of phagocytosis
- muscle cell homeostasis
- regulation of multicellular organism growth
- anterograde axon cargo transport
- myeloid cell homeostasis
- response to xenobiotic stimulus
- regulation of T cell differentiation in thymus
- superoxide anion generation
- placenta development
- thymus development
- negative regulation of neuron apoptotic process
- response to ethanol
- response to heat
- locomotory behavior
- transmission of nerve impulse
- regulation of action potential in neuron
- neurofilament cytoskeleton organization
- spermatogenesis
- positive regulation of MAPK cascade
- regulation of blood pressure
- embryo implantation
- ovarian follicle development
- reactive oxygen species metabolic process
- retina homeostasis
- glutathione metabolic process
- positive regulation of apoptotic process
- positive regulation of cytokine production
- retrograde axon cargo transport
- hydrogen peroxide biosynthetic process
- positive regulation of superoxide anion generation
Cellular Component
Where in the cell the gene product is active
- neuronal cell body
- extracellular region
- plasma membrane
- nucleoplasm
- peroxisome
- nucleus
- mitochondrial intermembrane space
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- mitochondrial matrix
- mitochondrion
- dendrite cytoplasm
- cytosol
- cytoplasmic vesicle
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- protein binding
- copper ion binding
- chaperone binding
- small GTPase binding
- superoxide dismutase activity
- protein phosphatase 2B binding