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GPX1 glutathione peroxidase 1 [ Homo sapiens (human) ]

Gene ID: 2876, updated on 17-May-2020

Summary

Official Symbol
GPX1provided by HGNC
Official Full Name
glutathione peroxidase 1provided by HGNC
Primary source
HGNC:HGNC:4553
See related
Ensembl:ENSG00000233276 MIM:138320
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
GPXD; GSHPX1
Summary
The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in fat (RPKM 212.4), spleen (RPKM 100.0) and 24 other tissues See more
Orthologs

Genomic context

See GPX1 in Genome Data Viewer
Location:
3p21.31
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49357171..49358600, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49394609..49395791, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 4 Neighboring gene Sjoegren syndrome nuclear autoantigen 1 homolog Neighboring gene GATA motif-containing MPRA enhancer 295 Neighboring gene ras homolog family member A Neighboring gene Sharpr-MPRA regulatory region 7935 Neighboring gene T cell leukemia translocation altered

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

Associated conditions

Description Tests
Glutathione peroxidase deficiency
MedGen: C0398747 OMIM: 614164 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

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
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 increases catalase and glutathione peroxidase 1 (GPX1) activities in human cardiac myocyte 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 HIV-1 Tat causes a greater than 50% decrease in intracellular reduced glutathione (GSH), leading to the extracellular appearance of acidic FGF-1, an effect that is partially mediated through modulation of GSH biosynthetic enzymes PubMed
tat Expression of HIV-1 Tat in HeLa cells downregulates cytoplasmic glutathione peroxidase while upregulating phospholipid hydroperoxide glutathione peroxidase, thereby deregulating intracellular oxidant/antioxidant balance and amplifying UV sensitivity 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

Clone Names

  • MGC14399, MGC88245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
glutathione peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
UV protection IMP
Inferred from Mutant Phenotype
more info
PubMed 
angiogenesis involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
blood vessel endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
endothelial cell development IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
glutathione metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
interaction with symbiont IEA
Inferred from Electronic Annotation
more info
 
lipoxygenase pathway TAS
Traceable Author Statement
more info
 
myoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of supramolecular fiber organization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein oxidation IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide catabolic process TAS
Traceable Author Statement
more info
 
regulation of gene expression, epigenetic IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mammary gland epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to hydrogen peroxide IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hydroperoxide IEA
Inferred from Electronic Annotation
more info
 
response to selenium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to selenium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to symbiotic bacterium IEA
Inferred from Electronic Annotation
more info
 
response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
temperature homeostasis IEA
Inferred from Electronic Annotation
more info
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Lewy body IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
glutathione peroxidase 1
Names
GSHPx-1
cellular glutathione peroxidase
NP_000572.2
NP_001316384.1
NP_001316431.1
NP_001316432.1
NP_958799.1

NCBI Reference Sequences (RefSeq)

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_012264.1 RefSeqGene

    Range
    5006..6183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000581.4NP_000572.2  glutathione peroxidase 1 isoform 1

    See identical proteins and their annotated locations for NP_000572.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC007865, DA730294
    Consensus CDS
    CCDS43091.1
    UniProtKB/Swiss-Prot
    P07203
    UniProtKB/TrEMBL
    Q7L4Q3
    Related
    ENSP00000407375.1, ENST00000419783.3
    Conserved Domains (1) summary
    cd00340
    Location:15192
    GSH_Peroxidase; Glutathione (GSH) peroxidase family; tetrameric selenoenzymes that catalyze the reduction of a variety of hydroperoxides including lipid peroxidases, using GSH as a specific electron donor substrate. GSH peroxidase contains one selenocysteine residue per ...
  2. NM_001329455.1NP_001316384.1  glutathione peroxidase 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate, in-frame donor splice site at the 5' terminal exon, which results in the loss of the internal UGA stop codon compared to variant 1. The resulting isoform (5) is shorter, lacking an internal protein segment containing the selenocysteine residue, compared to isoform 1.
    Source sequence(s)
    AW079514, DA583406, DA730294, HM005391
    Consensus CDS
    CCDS87079.1
    Related
    ENSP00000495108.1, ENST00000643797.1
  3. NM_001329502.2NP_001316431.1  glutathione peroxidase 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate acceptor splice site at the 3' terminal exon, which causes a frameshift compared to variant 1. The resulting isoform (3) is shorter with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC121247, BC007865, BP205653, DA730294
    Consensus CDS
    CCDS87078.1
    UniProtKB/TrEMBL
    Q7L4Q3
    Related
    ENSP00000493593.1, ENST00000496791.1
  4. NM_001329503.2NP_001316432.1  glutathione peroxidase 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate acceptor splice site at the 3' terminal exon, which causes a frameshift compared to variant 1. The resulting isoform (4) is shorter with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC007865, BP213008, DA730294
    Consensus CDS
    CCDS87077.1
    UniProtKB/TrEMBL
    Q7L4Q3
    Related
    ENSP00000495001.1, ENST00000646881.1
  5. NM_201397.3NP_958799.1  glutathione peroxidase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) retains an intron, which causes a frameshift compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC007865, BI906726, DA730294
    Consensus CDS
    CCDS54582.1
    UniProtKB/TrEMBL
    Q7L4Q3
    Related
    ENSP00000391316.1, ENST00000419349.2
    Conserved Domains (1) summary
    cl00388
    Location:1684
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49357171..49358600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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