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Gene : SOD1 Homo sapiens

Name  ? superoxide dismutase 1 Cytological Location  21q22.11
Brief Description  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]
  • synonyms:
  • IPOA,
  • X02317,
  • IPOA,
  • NM_000454,
  • ALS,
  • SOD1,
  • OTTHUMG00000084878,
  • HGNC:11179,
  • amyotrophic lateral sclerosis 1 (adult),
  • ALS1,
  • ALS1,
  • ALS,
  • hSod1,
  • HEL-S-44,
  • superoxide dismutase 1, soluble,
  • SOD,
  • AY049787,
  • uc002ypa.4,
  • homodimer
  • identifiers:
  • 6647,
  • ENSG00000142168,
  • SOD1

Genome feature

Region: gene ? Length: 9310  
Location: 21:31659622-31668931 Cyto location: 21q22.11


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

140 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results