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

Gene ID: 2944, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109687817..109693745)
105.20220307 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
  • 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. Relationship between glutathione S-transferase M1 gene polymorphism and gastric cancer. Qi M, et al. Cell Mol Biol (Noisy-le-grand), 2022 Dec 31. PMID 37130181
  2. An updated analysis on the association of GSTM1 polymorphism and smoking exposure with the increased risk of coronary heart disease. Liu M, et al. J Int Med Res, 2022 Sep. PMID 36112810, Free PMC Article
  3. Development of a screening protocol to identify persons who are responsive to wood smoke particle-induced airway inflammation with pilot assessment of GSTM1 genotype and asthma status as response modifiers. Alexis NE, et al. Inhal Toxicol, 2022. PMID 35968917, Free PMC Article
  4. Many hands make light work: CNV of GSTM1 effect on the oral carcinoma risk. Firigato I, et al. Cancer Epidemiol, 2022 Jun. PMID 35390586
  5. The role of GSTM1 gene polymorphism in pathophysiology, evaluation, and management of constipation of anorectal outlet obstruction. Wang S, et al. Cell Mol Biol (Noisy-le-grand), 2021 Nov 25. PMID 34933715

See all (2252) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
    Title: Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
  7. Progonostic effect of GSTM1/GSTT1 polymorphism in determining cardiovascular diseases risk among type 2 diabetes patients in South Indian population.
    Title: Progonostic effect of GSTM1/GSTT1 polymorphism in determining cardiovascular diseases risk among type 2 diabetes patients in South Indian population.
  8. GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a system review and meta-analysis.
    Title: GSTM1 and GSTT1 polymorphisms and risk of preeclampsia: a system review and meta-analysis.
  9. Mixed exposure effect of seminal metals on semen quality, mediation of total antioxidant capacity, and moderation of GSTM1/GSTT1 gene deletion in Chinese reproductive-aged men.
    Title: Mixed exposure effect of seminal metals on semen quality, mediation of total antioxidant capacity, and moderation of GSTM1/GSTT1 gene deletion in Chinese reproductive-aged men.
  10. Relationship between glutathione S-transferase M1 gene polymorphism and gastric cancer.
    Title: Relationship between glutathione S-transferase M1 gene polymorphism and gastric cancer.
Submit: New GeneRIF Correction See all GeneRIFs (1340)

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_2023_10

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

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