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GSTM4 glutathione S-transferase mu 4 [ Homo sapiens (human) ]

Gene ID: 2948, updated on 5-Mar-2024

Summary

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Official Symbol
GSTM4provided by HGNC
Official Full Name
glutathione S-transferase mu 4provided by HGNC
Primary source
HGNC:HGNC:4636
See related
Ensembl:ENSG00000168765 MIM:138333; AllianceGenome:HGNC:4636
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
GTM4; GSTM4-4
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. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in duodenum (RPKM 44.6), small intestine (RPKM 30.1) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
1p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109656099..109667727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109684537..109696166)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110198721..110208119)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:110162157-110162685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110163216-110163744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110164805-110165334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110166705-110167518 Neighboring gene adenosine monophosphate deaminase 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110171947-110172506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110173069-110173628 Neighboring gene Sharpr-MPRA regulatory region 1493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110186678-110187551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110199362-110199947 Neighboring gene ribosomal protein L7 pseudogene 8 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 1

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. Screening for inter-individual splicing differences in human GSTM4 and the discovery of a single nucleotide substitution related to the tandem skipping of two exons. Denson J, et al. Gene, 2006 Sep 1. PMID 16854533
  2. A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer. Liloglou T, et al. Lung Cancer, 2002 Aug. PMID 12140136
  3. Identification of mu-class glutathione transferases M2-2 and M3-3 as cytosolic prostaglandin E synthases in the human brain. Beuckmann CT, et al. Neurochem Res, 2000 May. PMID 10905636
  4. Isolation and analysis of the gene and cDNA for a human Mu class glutathione S-transferase, GSTM4. Comstock KE, et al. J Biol Chem, 1993 Aug 15. PMID 8349586
  5. Glutathione transferases of classes alpha, mu and pi show selective expression in different regions of rat kidney. Rozell B, et al. Xenobiotica, 1993 Aug. PMID 8284940

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our data suggest that the combined treatment with chemotherapy and GST(GSTM1, GSTM4 and GSTT1 ) inhibitors such as EA might be an interesting option for patients with chemoresistant Hodgkin's lymphoma
    Title: Glutathione-S-transferases and Chemotherapy Resistance of Hodgkin's Lymphoma Cell Lines.
  2. There were no significant associations between glutathione-S-transferases and p53 expressions and tumor stage, tumor grade and smoking status (p>0.05).
    Title: The expression of GST isoenzymes and p53 in non-small cell lung cancer.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. We observed suggestive associations between survival and GSTT1 copy number and GSTA5, GSTM4, and ABCC4 single nucleotide polymorphisms
    Title: Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy.
  5. GSTM4 contributes to the cancerous behavior of Ewing's sarcoma.
    Title: GSTM4 is a microsatellite-containing EWS/FLI target involved in Ewing's sarcoma oncogenesis and therapeutic resistance.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Genetic variants in GSTM3 gene within GSTM4-GSTM2-GSTM1-GSTM5-GSTM3 cluster influence breast cancer susceptibility depending on GSTM1.
  7. GSTM4 (glutathione S-transferase mu 4) haplotype 1101000 may be an important determinant for lung function growth
    Title: Variation in the GST mu locus and tobacco smoke exposure as determinants of childhood lung function.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
  9. A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer.
    Title: A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer.
  10. a novel splice variant of GSTM4 that resulted from tandem skipping of exons 4 and 5 is identified.
    Title: Screening for inter-individual splicing differences in human GSTM4 and the discovery of a single nucleotide substitution related to the tandem skipping of two exons.
Submit: New GeneRIF Correction

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

  • MGC9247, MGC131945

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 leukotriene-C4 synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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 long-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nitrobenzene metabolic process IEA
Inferred from Electronic Annotation
more info
  
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 4
Names
GST class-mu 4
GST-Mu2
GTS-Mu2
S-(hydroxyalkyl)glutathione lyase M4
glutathione S-alkyltransferase M4
glutathione S-aralkyltransferase M4
glutathione S-aryltransferase M4
glutathione S-transferase M4
leukotriene C4 synthase GSTM4
testis tissue sperm-binding protein Li 60n
NP_000841.1
NP_671489.1
XP_016856574.1
XP_047274608.1
XP_047274610.1
XP_054192141.1
XP_054192142.1

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.

mRNA and Protein(s)

  1. NM_000850.5 → NP_000841.1  glutathione S-transferase Mu 4 isoform 1

    See identical proteins and their annotated locations for NP_000841.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC000031, BC108729, DA895954
    Consensus CDS
    CCDS807.1
    UniProtKB/Swiss-Prot
    A8K765, Q03013, Q05465, Q32NC1, Q4JNT8, Q6FH87
    UniProtKB/TrEMBL
    A0A140VKE3
    Related
    ENSP00000358851.4, ENST00000369836.9
    Conserved Domains (3) summary
    cd03209
    Location:92 → 211
    GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
    COG0625
    Location:3 → 189
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    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_147148.3 → NP_671489.1  glutathione S-transferase Mu 4 isoform 2

    See identical proteins and their annotated locations for NP_671489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame exon in the 3' coding region and 3' UTR, compared to variant 1. It encodes a protein which has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC000031, BI791533, DA895954, M99422
    Consensus CDS
    CCDS806.1
    UniProtKB/Swiss-Prot
    Q03013
    Related
    ENSP00000316471.5, ENST00000326729.9
    Conserved Domains (3) summary
    cd03209
    Location:92 → 189
    GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
    COG0625
    Location:3 → 189
    GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]
    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, ...

RNA

  1. NR_024538.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AC000031, BC015513, DA895954, M99421
    Related
    ENST00000495742.5

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
    109656099..109667727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001085.2 → XP_016856574.1  glutathione S-transferase Mu 4 isoform X1

  2. XM_047418654.1 → XP_047274610.1  glutathione S-transferase Mu 4 isoform X3

  3. XM_047418652.1 → XP_047274608.1  glutathione S-transferase Mu 4 isoform X2

    UniProtKB/TrEMBL
    A6NNT0
    Related
    ENSP00000358848.1, ENST00000369833.5

RNA

  1. XR_007059238.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    109684537..109696166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336166.1 → XP_054192141.1  glutathione S-transferase Mu 4 isoform X4

  2. XM_054336167.1 → XP_054192142.1  glutathione S-transferase Mu 4 isoform X5

RNA

  1. XR_008486012.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_147149.1: Suppressed sequence

    Description
    NM_147149.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03013.3 GenPept UniProtKB/Swiss-Prot:Q03013

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