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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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).
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.
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.
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.
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.
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.
Association of Oral Submucous Fibrosis Risk with GSTM1 and GSTT1 Gene Polymorphisms.
Title: Association of Oral Submucous Fibrosis Risk with GSTM1 and GSTT1 Gene Polymorphisms.
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

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:33073

SHGC-12332 (e-PCR)
- UniSTS:33074

RH64476 (e-PCR)
- UniSTS:87865

G67222 (e-PCR)
- UniSTS:186432

G62022 (e-PCR)
- UniSTS:139106

GDB:655882 (e-PCR)
- UniSTS:158567

D6S1881 (e-PCR)
- UniSTS:22704

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

EC 2.5.1.18

NP_666533.1

EC 2.5.1.18

XP_005270839.1

EC 2.5.1.18

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

NG_009246.1 RefSeqGene

Range

5022..10950

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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, ...
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

109687817..109693745

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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