GenAge entry for SOD1 (Homo sapiens)

Gene name (HAGRID: 130)

HGNC symbol
SOD1 
Aliases
IPOA; ALS; ALS1 
Common name
superoxide dismutase 1, soluble 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence directly linking the gene product to ageing in a non-mammalian animal model
Description

SOD1 is an antioxidant. It is the predominant member of the SOD family found in the cytoplasm. Initial results from invertebrates suggested a role for SOD1 in ageing. Overexpression of SOD1 and CAT in short-lived strains of fruit flies extends lifespan and appears to delay ageing [39], but the same effects are not witnessed in long-lived strains [40].

Early SOD1-null mice models were found to develop normally and did not show signs of premature ageing, though they were vulnerable to motor neuron loss after axonal injury [45]. In a more recent study the kidneys of SOD1-null mice exhibited increased DNA damage, increased senescent cells, and increased inflammation. Subjecting these mice to dietary restriction attenuated these effects [4485]. SMP30RGN/SOD1-double knockout mice exhibit abnormal plasma lipid metabolism, hepatic lipid accumulation and premature death resulting from impaired VLDL secretion, both compared to wild type, SMP30-knockout and SOD1-knockout mice [3618]. Overexpression of human SOD1 in transgenic mice results in neurodegenerative changes [663]. In humans, mutations in SOD1 have been associated with amyotrophic lateral sclerosis [671]. A role for SOD1 in human ageing, while not impossible, remains to be determined.

Cytogenetic information

Cytogenetic band
21q22.11
Location
31,659,622 bp to 31,668,930 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000187; activation of MAPK activity
GO:0000302; response to reactive oxygen species
GO:0000303; response to superoxide
GO:0001541; ovarian follicle development
GO:0001819; positive regulation of cytokine production
GO:0001890; placenta development
GO:0001895; retina homeostasis
GO:0001975; response to amphetamine
GO:0002262; myeloid cell homeostasis
GO:0002576; platelet degranulation
GO:0006749; glutathione metabolic process
GO:0006801; superoxide metabolic process
GO:0006879; cellular iron ion homeostasis
GO:0007283; spermatogenesis
GO:0007566; embryo implantation
GO:0007569; cell aging
GO:0007605; sensory perception of sound
GO:0007626; locomotory behavior
GO:0008089; anterograde axonal transport
GO:0008090; retrograde axonal transport
GO:0008217; regulation of blood pressure
GO:0009408; response to heat
GO:0010033; response to organic substance
GO:0019226; transmission of nerve impulse
GO:0019430; removal of superoxide radicals
GO:0031667; response to nutrient levels
GO:0032287; peripheral nervous system myelin maintenance
GO:0032930; positive regulation of superoxide anion generation
GO:0033081; regulation of T cell differentiation in thymus
GO:0034465; response to carbon monoxide
GO:0035865; cellular response to potassium ion
GO:0040014; regulation of multicellular organism growth
GO:0042493; response to drug
GO:0042542; response to hydrogen peroxide
GO:0042554; superoxide anion generation
GO:0043065; positive regulation of apoptotic process
GO:0043085; positive regulation of catalytic activity
GO:0043087; regulation of GTPase activity
GO:0043524; negative regulation of neuron apoptotic process
GO:0045471; response to ethanol
GO:0045541; negative regulation of cholesterol biosynthetic process
GO:0045859; regulation of protein kinase activity
GO:0046620; regulation of organ growth
GO:0046677; response to antibiotic
GO:0046688; response to copper ion
GO:0046716; muscle cell cellular homeostasis
GO:0048538; thymus development
GO:0048678; response to axon injury
GO:0050665; hydrogen peroxide biosynthetic process
GO:0051881; regulation of mitochondrial membrane potential
GO:0055114; oxidation-reduction process
GO:0060047; heart contraction
GO:0060052; neurofilament cytoskeleton organization
GO:0060087; relaxation of vascular smooth muscle
GO:0060088; auditory receptor cell stereocilium organization
GO:0071276; cellular response to cadmium ion
GO:0071318; cellular response to ATP
GO:0072593; reactive oxygen species metabolic process
GO:0097332; response to antipsychotic drug
GO:1902177; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
Cellular component: GO:0005576; extracellular region
GO:0005615; extracellular space
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005739; mitochondrion
GO:0005758; mitochondrial intermembrane space
GO:0005759; mitochondrial matrix
GO:0005764; lysosome
GO:0005777; peroxisome
GO:0005829; cytosol
GO:0005886; plasma membrane
GO:0031012; extracellular matrix
GO:0031045; dense core granule
GO:0031410; cytoplasmic vesicle
GO:0032839; dendrite cytoplasm
GO:0043025; neuronal cell body
GO:0043209; myelin sheath
GO:0043234; protein complex
GO:0070062; extracellular exosome
GO:1904115; axon cytoplasm
Function: GO:0004784; superoxide dismutase activity
GO:0005507; copper ion binding
GO:0005515; protein binding
GO:0008270; zinc ion binding
GO:0030346; protein phosphatase 2B binding
GO:0042802; identical protein binding
GO:0042803; protein homodimerization activity
GO:0048365; Rac GTPase binding
GO:0051087; chaperone binding
Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TXN, PIN1, BCL2, CAT, SOD2, SOD1, PRDX1, RGN, HSPA9, PCMT1, HSPA8, RAE1, STUB1, GPX4, TRAP1
STRING interaction network
Protein-Protein network diagram for SOD1

Retrieve sequences for SOD1

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
sod-5
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
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD1
  • A homolog of this gene for Drosophila melanogaster is present as Sod
GenDR gene manipulations
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD1
LongevityMap
  • This gene is present as SOD1
CellAge
  • This gene is present as SOD1

Selected references

External links

EPD
HS_SOD1
ORF Accession
NM_000454
CDS Accession
NP_000445
OMIM
147450
HPRD
00937
Ensembl
SOD1
UniProt/Swiss-Prot
SODC_HUMAN
GeneCards
SOD1
Entrez Gene
6647
UniGene
443914
GenAtlas
SOD1
Internet
Search Google