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    SOD1 superoxide dismutase 1, soluble [ Homo sapiens (human) ]

    Gene ID: 6647, updated on 26-Jul-2015
    Official Symbol
    SOD1provided by HGNC
    Official Full Name
    superoxide dismutase 1, solubleprovided by HGNC
    Primary source
    HGNC:HGNC:11179
    See related
    Ensembl:ENSG00000142168; HPRD:00937; MIM:147450; Vega:OTTHUMG00000084878
    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; 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. 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]
    Orthologs
    See SOD1 in Epigenomics, MapViewer
    Location:
    21q22.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (31659622..31668931)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33031935..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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Amyotrophic lateral sclerosis type 1 Compare labs

    NHGRI GWAS Catalog

    Description
    Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
    NHGRI GWA Catalog

    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 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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rac GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperone binding IPI
    Inferred from Physical Interaction
    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 homodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein phosphatase 2B binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide dismutase activity EXP
    Inferred from Experiment
    more info
     
    superoxide dismutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide dismutase activity TAS
    Traceable Author Statement
    more info
     
    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 axon cargo 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
     
    blood coagulation TAS
    Traceable Author Statement
    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 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
     
    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 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
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    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 activation TAS
    Traceable Author Statement
    more info
     
    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 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 smooth muscle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    removal of superoxide radicals IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 reactive oxygen species TAS
    Traceable Author Statement
    more info
     
    response to superoxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retrograde axon cargo 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
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    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 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    superoxide dismutase [Cu-Zn]
    Names
    Cu/Zn superoxide dismutase
    SOD, soluble
    epididymis secretory protein Li 44
    indophenoloxidase A
    superoxide dismutase, cystolic
    NP_000445.1

    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_000454.4NP_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, W17182, X02317
      Consensus CDS
      CCDS33536.1
      UniProtKB/Swiss-Prot
      P00441
      UniProtKB/TrEMBL
      V9HWC9
      Related
      ENSP00000270142, OTTHUMP00000107278, ENST00000270142, OTTHUMT00000192585
      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 Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      31659622..31668931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      32593921..32603230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)