GSTM1

protein-coding

glutathione S-transferase mu 1, the group of Soluble glutathione S-transferases

Gene 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]

Previous symbols:
  • GST1

MANE transcript

NM_000561.4

Inheritance

—

ClinVar variants

U:22B:7

Top phenotype

GSTM1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr1:109,687,814-109,709,039

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~21.2 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GSTM1 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 13
not providedTotal: 5
GSTM1-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000561.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
12
clinvar
4
clinvar
3
clinvar
19
nonsense
0
start loss
0
frameshift
4
clinvar
4
splice donor/acceptor (+/-2bp)
6
clinvar
6
Total00224329
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 61 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_000561.4RefSeqNP_000552.28MANE Select
ENST00000309851.10EnsemblENSP00000311469.58MANE Select
NM_146421.3RefSeqNP_666533.17Standard
ENST00000349334.7EnsemblENSP00000234981.47Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Glutathione metabolism - Homo sapiens (human)
  • Hepatocellular carcinoma - Homo sapiens (human)
  • Fluid shear stress and atherosclerosis - Homo sapiens (human)
  • Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
  • Drug metabolism - other enzymes - Homo sapiens (human)

Biological Process

  • glutathione metabolic process
  • nitrobenzene metabolic process
  • xenobiotic catabolic process
  • cellular detoxification of nitrogen compound
  • glutathione derivative biosynthetic process

Molecular Function

  • glutathione transferase activity
  • enzyme binding
  • protein homodimerization activity
  • glutathione binding

Cellular Component

  • cytoplasm
  • cytosol
  • intercellular bridge

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000309851
Coding exons
8
Length
21226
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.52721180.6080.000006301435
Missense (PolyPhen)1232.4990.36925402
Synonymous2.372241.40.5320.00000207363
Loss of Function1.54611.70.5134.91e-7158

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. {ECO:0000269|PubMed:16548513}.;

Recessive Scores

pRec
0.489

Intolerance Scores

LoFtool
0.686
RVIS EVS
1.41
RVIS percentile EVS
94.84

Essentials

Essential (CRISPR)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.755

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.