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    GSTM1 glutathione S-transferase mu 1 [ Homo sapiens (human) ]

    Gene ID: 2944, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GSTM1provided by HGNC
    Official Full Name
    glutathione S-transferase mu 1provided by HGNC
    Primary source
    HGNC:HGNC:4632
    See related
    Ensembl:ENSG00000134184 MIM:138350; AllianceGenome:HGNC:4632
    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
    MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; GSTM1a-1a; GSTM1b-1b
    Summary
    Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 72.7), ovary (RPKM 58.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GSTM1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109687817..109693745)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110230439..110236367)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110199362-110199947 Neighboring gene glutathione S-transferase mu 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1450 Neighboring gene glutathione S-transferase mu 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1451 Neighboring gene glutathione S-transferase mu 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1158 Neighboring gene glutathione S-transferase mu 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Association of glutathione S-transferase M1 polymorphisms and lung cancer risk in a Chinese population. Liu D, et al. Clin Chim Acta, 2012 Dec 24. PMID 23000285
    2. GSTM1 null genotype as risk factor for late-onset Alzheimer's disease in Italian patients. Piacentini S, et al. J Neurol Sci, 2012 Jun 15. PMID 22381228
    3. Meta-analysis of association between GSTM1 gene polymorphism and cervical cancer. Liu Y, et al. Asian Pac J Trop Med, 2012 Jun. PMID 22575983
    4. GSTM1 null genotype contributes to increased risk of male infertility: a meta-analysis. Chengyong W, et al. J Assist Reprod Genet, 2012 Aug. PMID 22622525, Free PMC Article
    5. Role of GSTM1 in resistance to lung inflammation. Wu W, et al. Free Radic Biol Med, 2012 Aug 15. PMID 22683820, Free PMC Article

    See all (1000) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of mRNA expression and polymorphism of antioxidant glutathione-S-transferase (GSTM1 and GSTT1) genes with the risk of Gestational Diabetes Mellitus (GDM).
      Title: Association of mRNA expression and polymorphism of antioxidant glutathione-S-transferase (GSTM1 and GSTT1) genes with the risk of Gestational Diabetes Mellitus (GDM).
    2. Genetic Polymorphisms in Glutathione S-Transferase (GST) Gene and Their Correlation with Toxicity of Chemotherapy in Breast Cancer Patients.
      Title: Genetic Polymorphisms in Glutathione S-Transferase (GST) Gene and Their Correlation with Toxicity of Chemotherapy in Breast Cancer Patients.
    3. Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis.
      Title: Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis.
    4. Exploring the impact of GSTM1 as a novel molecular determinant of survival in head and neck cancer patients of African descent.
      Title: Exploring the impact of GSTM1 as a novel molecular determinant of survival in head and neck cancer patients of African descent.
    5. Genomic investigation on genes related to mercury metabolism in Amazonian indigenous populations.
      Title: Genomic investigation on genes related to mercury metabolism in Amazonian indigenous populations.
    6. GSTs genetic polymorphism, gene-environment interaction and association with gallbladder cancer risk in North Indian population: A case-controlled study.
      Title: GSTs genetic polymorphism, gene-environment interaction and association with gallbladder cancer risk in North Indian population: A case-controlled study.
    7. Association of Oral Submucous Fibrosis Risk with <em>GSTM1</em> and <em>GSTT1</em> Gene Polymorphisms.
      Title: Association of Oral Submucous Fibrosis Risk with <em>GSTM1</em> and <em>GSTT1</em> Gene Polymorphisms.
    8. Glutathione S-transferase M1, T1, and P1 polymorphisms and periodontitis in a Caucasian population: a case-control study.
      Title: Glutathione S-transferase M1, T1, and P1 polymorphisms and periodontitis in a Caucasian population: a case-control study.
    9. Potential role of glutathione S-transferase M1 gene polymorphism in kidney calcium oxalate stone formation.
      Title: Potential role of glutathione S‑transferase M1 gene polymorphism in kidney calcium oxalate stone formation.
    10. Factors associated with blood mercury concentrations and their interactions with three glutathione S-transferase genes (GSTT1, GSTM1, and GSTP1): an exposure assessment study of typically developing Jamaican children.
      Title: Factors associated with blood mercury concentrations and their interactions with three glutathione S-transferase genes (GSTT1, GSTM1, and GSTP1): an exposure assessment study of typically developing Jamaican children.
    Submit: New GeneRIF Correction See all GeneRIFs (1345)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26563

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables glutathione binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutathione transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutathione transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular detoxification of nitrogen compound IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutathione derivative biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutathione metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glutathione metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in hepoxilin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nitrobenzene metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in prostaglandin metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    glutathione S-transferase Mu 1
    Names
    GST HB subunit 4
    GST class-mu 1
    HB subunit 4
    S-(hydroxyalkyl)glutathione lyase
    glutathione S-alkyltransferase
    glutathione S-aralkyltransferase
    glutathione S-aryltransferase
    glutathione S-transferase M1
    NP_000552.2
    NP_666533.1
    XP_005270839.1

    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_009246.1 RefSeqGene

      Range
      5022..10950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000561.4 → NP_000552.2  glutathione S-transferase Mu 1 isoform 1

      See identical proteins and their annotated locations for NP_000552.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC036805, DB459176, X08020
      Consensus CDS
      CCDS809.1
      UniProtKB/Swiss-Prot
      P09488, Q5GHG0, Q6FH88, Q8TC98, Q9UC96
      UniProtKB/TrEMBL
      E7EWW9, X5DR03
      Related
      ENSP00000311469.5, ENST00000309851.10
      Conserved Domains (2) summary
      cd03209
      Location:92 → 212
      GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
      cd03075
      Location:3 → 84
      GST_N_Mu; GST_N family, Class Mu subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...

    2. NM_146421.3 → NP_666533.1  glutathione S-transferase Mu 1 isoform 2

      See identical proteins and their annotated locations for NP_666533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform 2) maintains the reading frame but is 37 amino acids shorter than isoform 1.
      Source sequence(s)
      BC024005, BC036805, DB459176
      Consensus CDS
      CCDS810.1
      UniProtKB/TrEMBL
      B9ZVX7, X5D932
      Related
      ENSP00000234981.4, ENST00000349334.7
      Conserved Domains (2) summary
      cd03075
      Location:3 → 84
      GST_N_Mu; GST_N family, Class Mu subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...
      cl02776
      Location:92 → 175
      GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109687817..109693745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270782.6 → XP_005270839.1  glutathione S-transferase Mu 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRM5
      Conserved Domains (3) summary
      cd03209
      Location:58 → 178
      GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
      COG0625
      Location:9 → 155
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cl00388
      Location:1 → 50
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09488.3 GenPept UniProtKB/Swiss-Prot:P09488

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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