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SOD1 superoxide dismutase 1 [ Homo sapiens (human) ]

Gene ID: 6647, updated on 10-Apr-2021

Summary

Official Symbol
SOD1provided by HGNC
Official Full Name
superoxide dismutase 1provided by HGNC
Primary source
HGNC:HGNC:11179
See related
Ensembl:ENSG00000142168 MIM:147450
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALS; SOD; ALS1; IPOA; STAHP; hSod1; HEL-S-44; homodimer
Summary
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. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. 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 2020]
Expression
Ubiquitous expression in liver (RPKM 426.2), kidney (RPKM 226.6) and 23 other tissues See more
Orthologs
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Genomic context

See SOD1 in Genome Data Viewer
Location:
21q22.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (31659693..31668931)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33032006..33041244)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 11 pseudogene 1 Neighboring gene uncharacterized LOC102724449 Neighboring gene SR-related CTD associated factor 4 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 2 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Amyotrophic lateral sclerosis type 1
MedGen: C1862939 OMIM: 105400
Compare labs
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
GeneReviews: Not available
Spastic tetraplegia and axial hypotonia, progressive
MedGen: C5231422 OMIM: 618598 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Antioxidant enzymes such as Cu/Zn-superoxide dismutase (SOD1) and/or glutathione peroxidase (GPx1) protect neuronal cells from HIV-1 gp120-induced programmed cell death PubMed
Envelope surface glycoprotein gp160, precursor env Free radical scavengers such as superoxide dismutase (SOD), dimethylthiourea (DMTU) and catalase attenuate morphine and gp160-induced human monocyte apoptosis PubMed
Tat tat HIV-1 Tat upregulates NQO1, CAT, SOD1, SOD2, and HMOX1 (HO1) mRNA levels in SH-SY5Y cells PubMed
tat Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells PubMed
tat HIV-1 Tat reduces the expression of MnSOD in several cell types PubMed
tat Cotransduction with both SOD1 and GPx1 significantly prevents Tat-mediated increases in intracellular Ca2+ fluxes PubMed
tat HIV-1 induced neuron apoptosis is protected by transduction with antioxidant enzymes, Cu/Zn superoxide dismutase (SOD1) and glutathione peroxidase (GPx1) PubMed
tat Cell-permeable SOD inhibits the activation of MAP kinases including ERK, JNK and p38 and the upregulation of ICAM-1 and VCAM-1 by HIV-1 Tat PubMed
tat Treatment of astrocytes with cell-permeable superoxide dismutase (SOD) leads to a decrease in Tat-induced ROS generation and NF-kappaB activation PubMed
tat The membrane transduction efficiencies and biological activities of the SOD protein are enhanced by fusing with the Tat protein transduction domain (PTD) at both termini PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2B binding IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
superoxide dismutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
superoxide dismutase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of MAPK activity ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
auditory receptor cell stereocilium organization ISS
Inferred from Sequence or Structural Similarity
more info
 
cell aging IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to ATP IEA
Inferred from Electronic Annotation
more info
 
cellular response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
cellular response to potassium ion IEA
Inferred from Electronic Annotation
more info
 
embryo implantation ISS
Inferred from Sequence or Structural Similarity
more info
 
embryo implantation NAS
Non-traceable Author Statement
more info
PubMed 
glutathione metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
heart contraction IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen peroxide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
hydrogen peroxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle cell cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
myeloid cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neurofilament cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
ovarian follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
placenta development NAS
Non-traceable Author Statement
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic process IC
Inferred by Curator
more info
PubMed 
positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of superoxide anion generation IDA
Inferred from Direct Assay
more info
PubMed 
reactive oxygen species metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of T cell differentiation in thymus NAS
Non-traceable Author Statement
more info
PubMed 
regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of multicellular organism growth ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of organ growth NAS
Non-traceable Author Statement
more info
PubMed 
regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
relaxation of vascular associated smooth muscle ISS
Inferred from Sequence or Structural Similarity
more info
 
removal of superoxide radicals IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
removal of superoxide radicals IC
Inferred by Curator
more info
PubMed 
removal of superoxide radicals ISS
Inferred from Sequence or Structural Similarity
more info
 
response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
response to antipsychotic drug IEA
Inferred from Electronic Annotation
more info
 
response to axon injury ISS
Inferred from Sequence or Structural Similarity
more info
 
response to carbon monoxide IEA
Inferred from Electronic Annotation
more info
 
response to copper ion IEA
Inferred from Electronic Annotation
more info
 
response to drug ISS
Inferred from Sequence or Structural Similarity
more info
 
response to ethanol ISS
Inferred from Sequence or Structural Similarity
more info
 
response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hydrogen peroxide ISS
Inferred from Sequence or Structural Similarity
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
response to organic substance IDA
Inferred from Direct Assay
more info
PubMed 
response to superoxide IDA
Inferred from Direct Assay
more info
PubMed 
retina homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
superoxide anion generation IEA
Inferred from Electronic Annotation
more info
 
superoxide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
superoxide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
thymus development NAS
Non-traceable Author Statement
more info
PubMed 
transmission of nerve impulse ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dense core granule IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrial matrix NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
superoxide dismutase [Cu-Zn]
Names
Cu/Zn superoxide dismutase
SOD, soluble
epididymis secretory protein Li 44
indophenoloxidase A
superoxide dismutase 1, soluble
superoxide dismutase, cystolic
NP_000445.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008689.1 RefSeqGene

    Range
    5001..14310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_652

mRNA and Protein(s)

  1. NM_000454.5NP_000445.1  superoxide dismutase [Cu-Zn]

    See identical proteins and their annotated locations for NP_000445.1

    Status: REVIEWED

    Source sequence(s)
    AV756797, BC001034, CA448539, X02317
    Consensus CDS
    CCDS33536.1
    UniProtKB/Swiss-Prot
    P00441
    UniProtKB/TrEMBL
    V9HWC9
    Related
    ENSP00000270142.6, ENST00000270142.10
    Conserved Domains (1) summary
    cd00305
    Location:3147
    Cu-Zn_Superoxide_Dismutase; Copper/zinc superoxide dismutase (SOD). superoxide dismutases catalyse the conversion of superoxide radicals to molecular oxygen. Three evolutionarily distinct families of SODs are known, of which the copper/zinc-binding family is one. Defects in the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    31659693..31668931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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