GSTM1 glutathione S-transferase mu 1 [Homo sapiens] - Gene

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Summary

Official Symbol: GSTM1provided by HGNC
Official Full Name: glutathione S-transferase mu 1provided by HGNC
Primary source: HGNC:4632
See related: Ensembl:ENSG00000134184; HPRD:00707; 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; MGC26563
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]

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Genomic context

Location :: 1p13.3

Sequence :: Chromosome: 1; NC_000001.10 (110230418..110236367)

See GSTM1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Although the GST-M1 null genotype was higher in Grade 3 than in Grade 1, 2 and controls, there were no statistical differences between control group and varicocele groups according to GST-M1 and GST-T1 null genotype.
Title: Glutathione S-transferase M1 and T1 polymorphisms in Turkish patients with varicocele.
Absence of one or both alleles for the GSTM1 gene did not influence airway function acutely
Title: Acute effects of walking environment and GSTM1 variants in children with asthma.
GSTM1 polymorphisms did not influence the development of aristolochic acid nephropathy.
Title: Glutathione S-transferases T1 null genotype is associated with susceptibility to aristolochic acid nephropathy.
Presence of Helicobacter pylori infection along with GSTM1*0 was associated with lower enzyme activity in patient with gastric cancer.
Title: Association between gastric mucosal glutathione-S-transferase activity, glutathione-S-transferase gene polymorphisms and Helicobacter pylori infection in gastric cancer.
genetic associations: GSTM1 null polymorphism is associated with increased risk of low-grade intraepithelial cervical lesions, but no increased risk of high-grade intraepithelial cervical lesions or invasive cervical cancer [Meta-Analysis/REVIEW]
Title: Association of glutathione S-transferase M1 and T1 null polymorphisms with the development of cervical lesions: a meta-analysis.
genetic association studies in Chinese population: Data suggest that blood biomarkers of oxidative stress are associated with combined influences of GSTM1/GSTT1 genotype and fruit/vegetable consumption.
Title: The role of glutathione S-transferase M1 and T1 gene polymorphisms and fruit and vegetable consumption in antioxidant parameters in healthy subjects.
CYP1A1 and GSTM1 polymorphisms should be considered as important parameters for the prediction of coronary artery disease.
Title: Impact of genetic variations of the CYP1A1, GSTT1, and GSTM1 genes on the risk of coronary artery disease.
Data shows that although this gene was not associated with PUVA outcome it was associated with clearance of Psoriasis in this group of patients.
Title: Glutathione S-transferase genotype is associated with sensitivity to psoralen-ultraviolet A photochemotherapy.
Meta-analysis indicates that GSTM1 null genotype might be associated with increased gastric cancer risk in Asians.
Title: The association between GSTM1 polymorphism and gastric cancer risk: a meta-analysis.
Association between the GSTM1 null genotype and hypertension was significant in younger subjects. Tobacco users with the GSTT1 null genotype were at an increased risk
Title: Glutathione S-transferase M1 and T1 gene polymorphisms and risk of hypertension in tea garden workers of North-East India.

Submit: New GeneRIF Correction See all (634)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P09488	P09488	GSTM1	HPRD	PubMed
P09488	P28161	GSTM2	HPRD	PubMed
P09488	Q99683	MAP3K5	HPRD	PubMed
BioGRID:109199	BioGRID:109201	GSTM2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109199	BioGRID:110381	MAP3K5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109199	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
glutathione transferase activity	TAS Traceable Author Statement more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
small molecule metabolic process	TAS Traceable Author Statement more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info

General protein information

Preferred Names: glutathione S-transferase Mu 1

Names: glutathione S-transferase Mu 1; HB subunit 4; GST class-mu 1; GST HB subunit 4; glutathione S-transferase M1; glutathione S-aryltransferase; glutathione S-alkyltransferase; glutathione S-aralkyltransferase; S-(hydroxyalkyl)glutathione lyase

NP_000552.2

EC 2.5.1.18

NP_666533.1

EC 2.5.1.18

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NCBI Reference Sequences (RefSeq)

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

NG_009246.1 RefSeqGene

Range

5001..10950

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000561.3 → NP_000552.2 glutathione S-transferase Mu 1 isoform 1

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

Related

ENSP00000311469, OTTHUMP00000013346, ENST00000309851, OTTHUMT00000032151

Conserved Domains (3) summary

cd03075
Location:3 – 84
Blast Score: 390

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, ...

PTZ00057
Location:3 – 203
Blast Score: 142

PTZ00057; glutathione s-transferase; Provisional

cd03209
Location:92 – 212
Blast Score: 446

GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases
NM_146421.2 → NP_666533.1 glutathione S-transferase Mu 1 isoform 2

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

Related

ENSP00000234981, OTTHUMP00000013347, ENST00000349334, OTTHUMT00000032152

Conserved Domains (2) summary

cd03075
Location:3 – 84
Blast Score: 386

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
Blast Score: 216

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

110230418..110236367

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

NW_001841066.1 Alternate HuRef

Range

7192..9961

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC000031.6	None
genomic	AC000032.7 (20237..25414)	None
genomic	S62935.1	AAD13938.1
genomic	X51451.1	CAA35817.1
genomic	X68676.1	CAA48636.1
mRNA	AY510272.1	AAR85979.1
mRNA	AY532926.1	AAT06767.1
mRNA	AY532927.1	AAT06768.1
mRNA	BC024005.2	AAH24005.1
mRNA	BC036805.1	None
mRNA	BC095463.1	None
mRNA	BQ436476.1	None
mRNA	CR541868.1	CAG46666.1
mRNA	DB459176.1	None
mRNA	J03817.1	AAA59203.1
mRNA	X08020.1	CAA30821.1
other-genetic	GQ129273.1	ACT64407.1
other-genetic	GQ129274.1	ACT64408.1
other-genetic	HQ448375.1	ADQ32855.1