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    SOD3 superoxide dismutase 3 [ Homo sapiens (human) ]

    Gene ID: 6649, updated on 17-Mar-2024

    Summary

    Official Symbol
    SOD3provided by HGNC
    Official Full Name
    superoxide dismutase 3provided by HGNC
    Primary source
    HGNC:HGNC:11181
    See related
    Ensembl:ENSG00000109610 MIM:185490; AllianceGenome:HGNC:11181
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SOD3 in Genome Data Viewer
    Location:
    4p15.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (24795573..24800842)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (24777502..24782774)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (24797195..24802464)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900683 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:24801347-24801847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24810365-24810945 Neighboring gene coiled-coil domain containing 149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858054-24858554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24858555-24859055 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24864823-24866022 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24870157-24871356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24918461-24919030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:24919031-24919599 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:24966942-24968141 Neighboring gene uncharacterized LOC102723675 Neighboring gene leucine rich repeat LGI family member 2 Neighboring gene uncharacterized LOC124900684

    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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC20077

    General protein information

    Preferred Names
    extracellular superoxide dismutase [Cu-Zn]
    Names
    superoxide dismutase 3, extracellular
    testicular tissue protein Li 175
    NP_003093.2

    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_012213.2 RefSeqGene

      Range
      5002..10271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003102.4NP_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
      Consensus CDS
      CCDS3430.1
      UniProtKB/Swiss-Prot
      P08294, Q5U781, Q6FHA2
      UniProtKB/TrEMBL
      A0A140VJU8, B2R9V7
      Related
      ENSP00000371554.3, ENST00000382120.4
      Conserved Domains (1) summary
      pfam00080
      Location:74210
      Sod_Cu; Copper/zinc superoxide dismutase (SODC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      24795573..24800842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_427488.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      24777502..24782774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487025.1 RNA Sequence