U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2944, updated on 12-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. Associations of GST Gene Polymorphisms and GST Enzyme Activity with the Development of Noise-Induced Hearing Loss in Chinese Han Males.
    Title: Associations of GST Gene Polymorphisms and GST Enzyme Activity with the Development of Noise-Induced Hearing Loss in Chinese Han Males.
  2. The moderation effect of GSTM1/GSTT1 gene polymorphisms on the association of sperm mitochondrial DNA copy number and sperm mobility.
    Title: The moderation effect of GSTM1/GSTT1 gene polymorphisms on the association of sperm mitochondrial DNA copy number and sperm mobility.
  3. 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).
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (1347)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous