SOD1 (superoxide dismutase 1)

2003-08-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
ALS,ALS1,HEL-S-44,IPOA,SOD,STAHP,hSod1,homodimer
FUSION GENES

Other Information

Locus ID:

NCBI: 6647
MIM: 147450
HGNC: 11179
Ensembl: ENSG00000142168

Variants:

dbSNP: 6647
ClinVar: 6647
TCGA: ENSG00000142168
COSMIC: SOD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142168ENST00000270142P00441
ENSG00000142168ENST00000270142V9HWC9
ENSG00000142168ENST00000389995H7BYH4

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Huntington's diseaseKEGGko05016
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Huntington's diseaseKEGGhsa05016
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
167411232006Onset and progression in inherited ALS determined by motor neurons and microglia.562
182460652008Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis.410
145260832003Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice.314
174691162007Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.280
218329972011Astrocytes from familial and sporadic ALS patients are toxic to motor neurons.274
209531942010Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.257
191913042009Current hypotheses for the underlying biology of amyotrophic lateral sclerosis.222
155319192005CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life.197
155319192005CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life.197
190417812008Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells.185

Citation

Dessen P

SOD1 (superoxide dismutase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42352/sod1-(superoxide-dismutase-1)