SOD1 (superoxide dismutase 1)

2003-08-01  

Identity

HGNC
SOD1
LOCATION
21q22.11
LOCUSID
6647
ALIAS
ALS,ALS1,HEL-S-44,IPOA,SOD,STAHP,hSod1,homodimer
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379304812024Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.2
379887882024Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses.0
380400512024Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.1
380563102024ALS-linked SOD1 mutations impair mitochondrial-derived vesicle formation and accelerate aging.2
381653472024Observing Patterns in MRI With QSM in Patients With SOD1 Genetic ALS (5047).0
382857822024Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.0
385225142024Tryptophan residues in TDP-43 and SOD1 modulate the cross-seeding and toxicity of SOD1.0
385676072024Association of SOD1 gene variants (50 bp Ins/Del, rs4817415, rs2070424, rs1041740, rs17880135) with plasma protein levels in vitiligo patients and their analysis in silico.0
385680442024High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.0
386579112024Pan-neuronal expression of human mutant SOD1 in Drosophila impairs survival and motor performance, induces early neuroinflammation and chromosome aberrations.0
388352402024Amyloidogenic regions in beta-strands II and III modulate the aggregation and toxicity of SOD1 in living cells.1
388964502024SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.1
379304812024Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.2
379887882024Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses.0
380400512024Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.1

Citation

Dessen P

SOD1 (superoxide dismutase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42352