SOD1
Sign in to saveAlso known as ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer, superoxide dismutase 1, soluble
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.
Gene data
SOD1- Name
- superoxide dismutase 1
- Type
- protein-coding
- Position
- 31,659,633–31,668,931 (+)
- Aliases
- ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
- Ensembl
- ENSG00000142168
- RefSeq RNA
- NM_000454.5
- RefSeq protein
- NP_000445.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
superoxide dismutase 1
- Symbol
- SOD1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 21:31,659,617-31,668,931
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein SOD1 PDB 1azv.png
Show 5 more facts
- HomoloGene ID
- 392
- exact match
- identifiers.org/ncbigene/6647
- genomic end
- 33041244
- genomic start
- 31659666
- cytogenetic location
- 21q22.11
Sources (7)
via Wikidata · CC0
~10 min read
Article
12 sectionsContents
- Structure
- Function
- Clinical significance
- Role in oxidative stress
- Amyotrophic lateral sclerosis (Lou Gehrig's disease)
- A4V mutation
- H46R mutation
- G93A mutation
- Down syndrome
- Interactions
- References
- Further reading
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.
== Structure ==