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

    Gene ID: 2944, updated on 14-Jan-2018
    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; Vega:OTTHUMG00000011635
    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
    Location:
    1p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (109687796..109693745)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110230418..110240828)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase mu 4 Neighboring gene glutathione S-transferase mu 2 Neighboring gene glutathione S-transferase mu 5 Neighboring gene glutathione S-transferase mu 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26563

    Gene Ontology Provided by GOA

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

    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
      5001..10950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000561.3NP_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
      UniProtKB/TrEMBL
      X5DR03
      Related
      ENSP00000311469.5, OTTHUMP00000013346, ENST00000309851.9, OTTHUMT00000032151
      Conserved Domains (3) summary
      cd03209
      Location:92212
      GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
      COG0625
      Location:3189
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cd03075
      Location:384
      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_146421.2NP_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/Swiss-Prot
      P09488
      UniProtKB/TrEMBL
      X5D932
      Related
      ENSP00000234981.4, OTTHUMP00000013347, ENST00000349334.7, OTTHUMT00000032152
      Conserved Domains (2) summary
      cd03075
      Location:384
      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:92175
      GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      109687796..109693745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270782.4XP_005270839.1  glutathione S-transferase Mu 1 isoform X1

      Conserved Domains (3) summary
      cd03209
      Location:58178
      GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
      COG0625
      Location:9155
      GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
      cl00388
      Location:150
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
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