LongevityMap Gene
Gene details
- HGNC symbol
- SOD1
- Aliases
- ALS; SOD; ALS1; IPOA; hSod1; HEL-S-44; homodimer
- Common name
- superoxide dismutase 1
- Description
- 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. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 21q22.11
- UCSC Genome Browser
- View 21q22.11 on the UCSC genome browser
- OMIM
- 147450
- Ensembl
- ENSG00000142168
- UniProt/Swiss-Prot
- SODC_HUMAN
- Entrez Gene
- 6647
- UniGene
- 443914
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- sod-4
- Danio rerio
- sod1
- Drosophila melanogaster
- Sod
- Mus musculus
- Sod1
- Rattus norvegicus
- Sod1
- Saccharomyces cerevisiae
- SOD1
- Schizosaccharomyces pombe
- sod1
In other databases
- GenAge model organism genes
- GenAge human genes
- This gene is present as SOD1
- GenDR gene manipulations
- A homolog of this gene for Saccharomyces cerevisiae is present as SOD1
- CellAge
- This gene is present as SOD1
Studies (3)
Significant/Non-significant: 0/3
Study 1
- Longevity Association
- Non-significant
- Population
- German
- Study Design
- 19 SNPs were examined in 1612 long-lived individuals (centenarians and nonagenarians) and 1104 younger controls as well as a subgroup of 748 centenarians from 1612 LLIs and 1104 younger controls.
- Conclusions
- No association was detected between the tested SNPs and the longevity phenotype, in the entire long-lived sample set nor in the centenarian subgroup analysis. There was no considerable influence of sequence variation in the SOD genes on human longevity in Germans.
- Indentifier
- rs4998557
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs4998557
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
- Conclusions
- No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
- Indentifier
- rs1041740
- Reference