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SOD3 superoxide dismutase 3 [ Homo sapiens (human) ]

Gene ID: 6649, updated on 21-Mar-2023

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
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Genomic context

See SOD3 in Genome Data Viewer
Location:
4p15.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (24795573..24800842)
RS_2023_03 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 coiled-coil domain containing 149 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

Homology

Clone Names

  • MGC20077

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular adaptor activity EXP
Inferred from Experiment
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables superoxide dismutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in blood vessel diameter maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in removal of superoxide radicals IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to copper ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 

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)

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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, Q6FHA2
    UniProtKB/TrEMBL
    A0A140VJU8
    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_03

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