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Aliases for SOD1 Gene

Aliases for SOD1 Gene

  • Superoxide Dismutase 1, Soluble 2 3 5
  • EC 1.15.1.1 4 63
  • HSod1 3 4
  • Amyotrophic Lateral Sclerosis 1 (Adult) 2
  • Epididymis Secretory Protein Li 44 3
  • Superoxide Dismutase, Cystolic 3
  • Cu/Zn Superoxide Dismutase 3
  • Superoxide Dismutase 1 4
  • Indophenoloxidase A 3
  • SOD, Soluble 3
  • Homodimer 3
  • HEL-S-44 3
  • IPOA 3
  • ALS1 3
  • ALS 3
  • SOD 3

External Ids for SOD1 Gene

Previous HGNC Symbols for SOD1 Gene

  • ALS
  • ALS1

Previous GeneCards Identifiers for SOD1 Gene

  • GC21P029609
  • GC21P031952
  • GC21P031953
  • GC21P033031
  • GC21P018441

Summaries for SOD1 Gene

Entrez Gene Summary for SOD1 Gene

  • 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]

GeneCards Summary for SOD1 Gene

SOD1 (Superoxide Dismutase 1, Soluble) is a Protein Coding gene. Diseases associated with SOD1 include Amyotrophic Lateral Sclerosis 1 and Sod1-Related Amyotrophic Lateral Sclerosis. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Platelet activation, signaling and aggregation. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CCS.

UniProtKB/Swiss-Prot for SOD1 Gene

  • Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Gene Wiki entry for SOD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOD1 Gene

Genomics for SOD1 Gene

Regulatory Elements for SOD1 Gene

Enhancers for SOD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SOD1 on UCSC Golden Path with GeneCards custom track

Promoters for SOD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOD1 Gene

Chromosome:
21
Start:
31,659,622 bp from pter
End:
31,668,931 bp from pter
Size:
9,310 bases
Orientation:
Plus strand

Genomic View for SOD1 Gene

Genes around SOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOD1 Gene

Proteins for SOD1 Gene

  • Protein details for SOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00441-SODC_HUMAN
    Recommended name:
    Superoxide dismutase [Cu-Zn]
    Protein Accession:
    P00441
    Secondary Accessions:
    • A6NHJ0
    • D3DSE4
    • Q16669
    • Q16711
    • Q16838
    • Q16839
    • Q16840
    • Q6NR85

    Protein attributes for SOD1 Gene

    Size:
    154 amino acids
    Molecular mass:
    15936 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not.
    Miscellaneous:
    • The protein (both wild-type and ALS1 variants) has a tendency to form fibrillar aggregates in the absence of the intramolecular disulfide bond or of bound zinc ions. These aggregates may have cytotoxic effects. Zinc binding promotes dimerization and stabilizes the native form.

    Three dimensional structures from OCA and Proteopedia for SOD1 Gene

neXtProt entry for SOD1 Gene

Proteomics data for SOD1 Gene at MOPED

Post-translational modifications for SOD1 Gene

  • Palmitoylation helps nuclear targeting and decreases catalytic activity.
  • Succinylation, adjacent to copper catalytic site probably inhibit activity. Desuccinylated by SIRT5, enhancing activity.
  • The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
  • Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.
  • Ubiquitination at Lys 31 and Lys 123
  • Modification sites at PhosphoSitePlus

Other Protein References for SOD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SOD1 (SOD1/Cu-Zn SOD)
  • Cell Signaling Technology (CST) Antibodies for SOD1 (SOD1)

Domains & Families for SOD1 Gene

Protein Domains for SOD1 Gene

Suggested Antigen Peptide Sequences for SOD1 Gene

Graphical View of Domain Structure for InterPro Entry

P00441

UniProtKB/Swiss-Prot:

SODC_HUMAN :
  • Belongs to the Cu-Zn superoxide dismutase family.
Family:
  • Belongs to the Cu-Zn superoxide dismutase family.
genes like me logo Genes that share domains with SOD1: view

No data available for Gene Families for SOD1 Gene

Function for SOD1 Gene

Molecular function for SOD1 Gene

GENATLAS Biochemistry:
copper/zinc superoxide dismutase 1,soluble,catabolic pathway of activated oxygen species,free radical detoxification,involved in the function of motor neuron,regulated by SP1,EGR1 and WT1
UniProtKB/Swiss-Prot CatalyticActivity:
2 superoxide + 2 H(+) = O(2) + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Enzyme Numbers (IUBMB) for SOD1 Gene

genes like me logo Genes that share phenotypes with SOD1: view

Human Phenotype Ontology for SOD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOD1 Gene

MGI Knock Outs for SOD1:

Animal Model Products

miRNA for SOD1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SOD1 Gene

Localization for SOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOD1 Gene

Cytoplasm. Mitochondrion. Nucleus. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria. {ECO:0000269 PubMed:19741096}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOD1 Gene COMPARTMENTS Subcellular localization image for SOD1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
peroxisome 5
lysosome 3
vacuole 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IDA 7172448
GO:0005739 mitochondrion IEA,IDA 16790527
GO:0005829 cytosol TAS --
GO:0005886 colocalizes_with plasma membrane IDA 17077646
GO:0031012 extracellular matrix IDA 9699963
genes like me logo Genes that share ontologies with SOD1: view

Pathways & Interactions for SOD1 Gene

genes like me logo Genes that share pathways with SOD1: view

Gene Ontology (GO) - Biological Process for SOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IEA,TAS --
GO:0001819 positive regulation of cytokine production IDA 15544046
GO:0001890 placenta development NAS 12485882
GO:0001895 retina homeostasis IEA,ISS --
GO:0001975 response to amphetamine IEA --
genes like me logo Genes that share ontologies with SOD1: view

No data available for SIGNOR curated interactions for SOD1 Gene

Drugs & Compounds for SOD1 Gene

(62) Drugs for SOD1 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved Nutra Enzyme, inducer 382,385
Zinc Approved Pharma 2102
Carboplatin Approved Pharma Enzyme Antitumor agent that forms platinum-DNA adducts., Platinum 1910
Cisplatin Approved Pharma Enzyme, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
Oxaliplatin Approved, Investigational Pharma Enzyme, substrate Antitumor agent, Platinum 1338

(95) Additional Compounds for SOD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
superoxide
  • Dioxidanidyl
  • Dioxide(1-)
  • Hyperoxid
  • Superoxide
  • Superoxide anion
11062-77-4
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with SOD1: view

Transcripts for SOD1 Gene

Unigene Clusters for SOD1 Gene

Superoxide dismutase 1, soluble:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - -
SP7:
SP8: - -

Relevant External Links for SOD1 Gene

GeneLoc Exon Structure for
SOD1
ECgene alternative splicing isoforms for
SOD1

Expression for SOD1 Gene

mRNA expression in normal human tissues for SOD1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SOD1 Gene



SOURCE GeneReport for Unigene cluster for SOD1 Gene Hs.443914

genes like me logo Genes that share expression patterns with SOD1: view

Protein tissue co-expression partners for SOD1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SOD1 Gene

Orthologs for SOD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SOD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SOD1 35
  • 85.31 (n)
  • 82.89 (a)
-- 36
  • 83 (a)
OneToMany
SOD1 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SOD1 35
  • 86.49 (n)
  • 81.58 (a)
SOD1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sod1 35
  • 83.77 (n)
  • 83.77 (a)
Sod1 16
Sod1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SOD1 35
  • 99.78 (n)
  • 100 (a)
SOD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sod1 35
  • 84.42 (n)
  • 83.12 (a)
oppossum
(Monodelphis domestica)
Mammalia SOD1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOD1 35
  • 75.66 (n)
  • 75.66 (a)
SOD1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOD1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sod1 35
  • 66.44 (n)
  • 69.33 (a)
Str.1999 35
African clawed frog
(Xenopus laevis)
Amphibia sod1-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii sod1 35
  • 67.97 (n)
  • 70.13 (a)
sod1 36
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9641 35
fruit fly
(Drosophila melanogaster)
Insecta CG9027 37
  • 55 (a)
Sod 37
  • 61 (a)
Sod 35
  • 55.84 (n)
  • 61.04 (a)
Sod 36
  • 56 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CUSOD3 35
  • 59.65 (n)
  • 59.21 (a)
worm
(Caenorhabditis elegans)
Secernentea sod-1 37
  • 56 (a)
sod-4 37
  • 54 (a)
ZK430.3 37
  • 54 (a)
sod-1 35
  • 55.26 (n)
  • 57.89 (a)
sod-4 36
  • 33 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL321W 35
  • 54.08 (n)
  • 57.62 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05567g 35
  • 54.44 (n)
  • 58.67 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOD1 35
  • 57.05 (n)
  • 56.38 (a)
SOD1 36
  • 55 (a)
OneToMany
SOD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CSD1 35
  • 56.31 (n)
  • 54.73 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3600 35
rice
(Oryza sativa)
Liliopsida Os07g0665200 35
  • 59.46 (n)
  • 60.81 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02133 35
  • 52.98 (n)
  • 55.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sod1 35
  • 55.56 (n)
  • 56.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5360 36
  • 54 (a)
OneToMany
Species with no ortholog for SOD1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOD1 Gene

ENSEMBL:
Gene Tree for SOD1 (if available)
TreeFam:
Gene Tree for SOD1 (if available)

Paralogs for SOD1 Gene

Paralogs for SOD1 Gene

(2) SIMAP similar genes for SOD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SOD1 Gene

genes like me logo Genes that share paralogs with SOD1: view

Variants for SOD1 Gene

Sequence variations from dbSNP and Humsavar for SOD1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_007130 Amyotrophic lateral sclerosis 1 (ALS1)
VAR_007131 Amyotrophic lateral sclerosis 1 (ALS1)
VAR_007132 Amyotrophic lateral sclerosis 1 (ALS1)
VAR_007133 Amyotrophic lateral sclerosis 1 (ALS1)
VAR_007134 Amyotrophic lateral sclerosis 1 (ALS1)

Structural Variations from Database of Genomic Variants (DGV) for SOD1 Gene

Variant ID Type Subtype PubMed ID
nsv519899 CNV Gain 19592680
nsv834079 CNV Loss 17160897

Variation tolerance for SOD1 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOD1 Gene

Human Gene Mutation Database (HGMD)
SOD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOD1 Gene

Disorders for SOD1 Gene

MalaCards: The human disease database

(59) MalaCards diseases for SOD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
sod1-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 1
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
lateral sclerosis
  • motor neuron disease
eales disease
  • idiopathic obliterative vasculopathy
- elite association - COSMIC cancer census association via MalaCards
Search SOD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SODC_HUMAN
  • Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:10430435, ECO:0000269 PubMed:10732812, ECO:0000269 PubMed:11369193, ECO:0000269 PubMed:11535232, ECO:0000269 PubMed:12402272, ECO:0000269 PubMed:14506936, ECO:0000269 PubMed:21220647, ECO:0000269 PubMed:21247266, ECO:0000269 PubMed:7496169, ECO:0000269 PubMed:7501156, ECO:0000269 PubMed:7647793, ECO:0000269 PubMed:7655468, ECO:0000269 PubMed:7655469, ECO:0000269 PubMed:7655471, ECO:0000269 PubMed:7700376, ECO:0000269 PubMed:7795609, ECO:0000269 PubMed:7836951, ECO:0000269 PubMed:7870076, ECO:0000269 PubMed:7881433, ECO:0000269 PubMed:7887412, ECO:0000269 PubMed:7951252, ECO:0000269 PubMed:7980516, ECO:0000269 PubMed:7997024, ECO:0000269 PubMed:8069312, ECO:0000269 PubMed:8179602, ECO:0000269 PubMed:8351519, ECO:0000269 PubMed:8446170, ECO:0000269 PubMed:8528216, ECO:0000269 PubMed:8682505, ECO:0000269 PubMed:8907321, ECO:0000269 PubMed:8938700, ECO:0000269 PubMed:8990014, ECO:0000269 PubMed:9101297, ECO:0000269 PubMed:9131652, ECO:0000269 PubMed:9455977}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SOD1

Genetic Association Database (GAD)
SOD1
Human Genome Epidemiology (HuGE) Navigator
SOD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOD1
genes like me logo Genes that share disorders with SOD1: view

No data available for Genatlas for SOD1 Gene

Publications for SOD1 Gene

  1. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (PMID: 8446170) Rosen D.R. … Brown R.H. Jr. (Nature 1993) 2 3 4 48 67
  2. Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation. (PMID: 19363716) Blumen S.C. … Andersen P.M. (Amyotroph Lateral Scler 2010) 3 23
  3. Inactivation of cytochrome c oxidase by mutant SOD1s in mouse motoneuronal NSC-34 cells is independent from copper availability but is because of nitric oxide. (PMID: 19845829) Arciello M. … Rossi L. (J. Neurochem. 2010) 3 23
  4. D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. (PMID: 20184519) Giannini F. … Siciliano G. (Amyotroph Lateral Scler 2010) 3 23
  5. Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS). (PMID: 20221404) Stevens J.C. … Fisher E.M. (PLoS ONE 2010) 3 23

Products for SOD1 Gene

Sources for SOD1 Gene

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