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    SOD3 superoxide dismutase 3 [ Homo sapiens (human) ]

    Gene ID: 6649, updated on 3-Jun-2018
    Official Symbol
    SOD3provided by HGNC
    Official Full Name
    superoxide dismutase 3provided by HGNC
    Primary source
    HGNC:HGNC:11181
    See related
    Ensembl:ENSG00000109610 MIM:185490; Vega:OTTHUMG00000128565
    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
    EC-SOD
    Summary
    This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in fat (RPKM 92.3), kidney (RPKM 26.6) and 19 other tissues See more
    Orthologs
    See SOD3 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (24795463..24800845)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (24797085..24802467)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2473 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 65 Neighboring gene coiled-coil domain containing 149 Neighboring gene uncharacterized LOC102723675 Neighboring gene leucine rich repeat LGI family member 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    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 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 HIV-1 Tat reduces the expression of MnSOD in several cell types 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

    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Copper homeostasis, organism-specific biosystem (from WikiPathways)
      Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
    • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
      Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • Oxidative Stress, organism-specific biosystem (from WikiPathways)
      Oxidative Stress, organism-specific biosystemOxidative stress represents an imbalance between the production and manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to rep...
    • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
      Selenium Micronutrient Network, organism-specific biosystem
      Selenium Micronutrient Network
    • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin B12 Metabolism, organism-specific biosystem
      Vitamin B12 Metabolism
    • reactive oxygen species degradation, organism-specific biosystem (from BIOCYC)
      reactive oxygen species degradation, organism-specific biosystemGeneral Background All organisms living in an aerobic environment are exposed to reactive oxygen species (ROS) that are formed through metabolic processes and various environmental stresses . ROS ar...
    • reactive oxygen species degradation, conserved biosystem (from BIOCYC)
      reactive oxygen species degradation, conserved biosystemGeneral Background All organisms living in an aerobic environment are exposed to reactive oxygen species (ROS) that are formed through metabolic processes and various environmental stresses |CITS: [...
    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Clone Names

    • MGC20077

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    superoxide dismutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    superoxide dismutase activity TAS
    Traceable Author Statement
    more info
     
    superoxide dismutase copper chaperone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to oxidative stress TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    removal of superoxide radicals IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    removal of superoxide radicals IEA
    Inferred from Electronic Annotation
    more info
     
    response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    extracellular superoxide dismutase [Cu-Zn]
    Names
    superoxide dismutase 3, extracellular
    testicular tissue protein Li 175
    NP_003093.2

    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_012213.1 RefSeqGene

      Range
      5001..10383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003102.2NP_003093.2  extracellular superoxide dismutase [Cu-Zn] preproprotein

      See identical proteins and their annotated locations for NP_003093.2

      Status: REVIEWED

      Source sequence(s)
      AC006390, BC014418, BI757365, BM677660, DA668533
      Consensus CDS
      CCDS3430.1
      UniProtKB/Swiss-Prot
      P08294
      UniProtKB/TrEMBL
      A0A140VJU8
      Related
      ENSP00000371554.3, OTTHUMP00000158715, ENST00000382120.3, OTTHUMT00000250416
      Conserved Domains (1) summary
      pfam00080
      Location:74210
      Sod_Cu; Copper/zinc superoxide dismutase (SODC)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      24795463..24800845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_427488.1 RNA Sequence

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