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    SOD1 superoxide dismutase 1 [ Homo sapiens (human) ]

    Gene ID: 6647, updated on 25-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOD1 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20211119 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 SOD1 divergent transcript Neighboring gene SR-related CTD associated factor 4 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 2 Neighboring gene TPT1 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?

    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
    enables chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 2B binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide dismutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables superoxide dismutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo implantation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryo implantation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glutathione metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hydrogen peroxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hydrogen peroxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle cell cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myeloid cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neurofilament cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovarian follicle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peripheral nervous system myelin maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in placenta development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of superoxide anion generation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of T cell differentiation in thymus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of organ growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in relaxation of vascular associated smooth muscle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in removal of superoxide radicals IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in removal of superoxide radicals IC
    Inferred by Curator
    more info
    PubMed 
    involved_in removal of superoxide radicals ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to antipsychotic drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to axon injury ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to carbon monoxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to heat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hydrogen peroxide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to superoxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retrograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in superoxide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thymus development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in transmission of nerve impulse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dense core granule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of 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
      ENSP00000270142.7, ENST00000270142.11
      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 109.20211119

    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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