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    GPX1 glutathione peroxidase 1 [ Homo sapiens (human) ]

    Gene ID: 2876, updated on 20-Feb-2017
    Official Symbol
    GPX1provided by HGNC
    Official Full Name
    glutathione peroxidase 1provided by HGNC
    Primary source
    HGNC:HGNC:4553
    See related
    Ensembl:ENSG00000233276 MIM:138320; Vega:OTTHUMG00000156837
    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 and multiple pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    3p21.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (49357176..49358358, 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 chromosome 3 open reading frame 62 Neighboring gene microRNA 4271 Neighboring gene ubiquitin specific peptidase 4 Neighboring gene Sjoegren syndrome nuclear autoantigen 1 homolog Neighboring gene ras homolog family member A Neighboring gene T-cell leukemia translocation altered

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

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    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione peroxidase activity TAS
    Traceable Author Statement
    more info
     
    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 
    endothelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interaction with symbiont IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to oxidative stress 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 neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to reactive oxygen species TAS
    Traceable Author Statement
    more info
     
    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 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      4759..6188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000581.3NP_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)
      AW079514, BC007865, DA730294
      Consensus CDS
      CCDS43091.1
      UniProtKB/Swiss-Prot
      P07203
      UniProtKB/TrEMBL
      Q7L4Q3
      Related
      ENSP00000407375, OTTHUMP00000210765, ENST00000419783, OTTHUMT00000346154
      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
    3. NM_001329502.1NP_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, AW079514, BC007865, BP205653, DA730294
      UniProtKB/TrEMBL
      Q7L4Q3
    4. NM_001329503.1NP_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)
      AW079514, BC007865, BP213008, DA730294
      UniProtKB/TrEMBL
      Q7L4Q3
    5. NM_201397.2NP_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)
      AW079514, BC007865, BI906726, DA730294
      Consensus CDS
      CCDS54582.1
      UniProtKB/TrEMBL
      Q7L4Q3
      Related
      ENSP00000391316, OTTHUMP00000210766, ENST00000419349, OTTHUMT00000346155
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      49357176..49358358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      49347422..49348601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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