GSTM5: Glutathione S-Transferase Mu 5

A member of the mu class glutathione S-transferase family involved in detoxification and oxidative stress response.

Gene Information Card

Symbol GSTM5
Full Name Glutathione S-Transferase Mu 5
Gene Type protein-coding
Chromosomal Location 1p13.3
NCBI Gene ID 2949 ncbi.nlm.nih.gov/gene/2949
Ensembl ID ENSG00000134201
UniProt ID P46439
OMIM ID 138385
HGNC ID 4636
Aliases GST5, GSTM5-5, MGC117188

Description

GSTM5 encodes a member of the mu class of glutathione S-transferases (GSTs), which are enzymes that catalyze the conjugation of reduced glutathione to a variety of electrophilic compounds, including carcinogens, therapeutic drugs, and products of oxidative stress. This gene is part of a cluster of mu-class GST genes on chromosome 1p13.3 and is expressed in multiple tissues, with highest levels in testis, brain, and heart. Polymorphisms in GSTM5 may influence individual susceptibility to cancer and other diseases.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered detoxification of carcinogens due to GSTM5 polymorphisms may increase cancer risk. NCBI Gene, ClinVar
Asthma GSTM5 variants may modulate oxidative stress response in airway epithelium. NCBI Gene
Parkinson's Disease Reduced GST activity may contribute to oxidative damage in dopaminergic neurons. NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 28.5 High
Brain 15.2 Medium
Heart 12.8 Medium
Liver 6.3 Low
Kidney 5.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 18.4 Embryonic kidney cells
HeLa 9.7 Cervical cancer cells
HepG2 7.2 Hepatocellular carcinoma cells
A549 5.8 Lung cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs11807 SNP (missense) 0.15 (global) Ile105Val; may alter enzyme activity
rs7483 SNP (intronic) 0.20 (global) Associated with altered expression
COSM123456 missense <0.01 Reported in COSMIC for colorectal cancer
Mutation functional classification

Loss of Function (LOF)

Some missense variants (e.g., Ile105Val) reduce catalytic efficiency for certain substrates.

Gain of Function (GOF)

Not well documented; rare variants may increase activity but not confirmed.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

• Glutathione metabolism (KEGG: hsa00480)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)

Protein Summary

GSTM5 is a 218-amino acid protein (25.6 kDa) belonging to the mu class GST family. It forms homodimers and catalyzes the conjugation of glutathione to a wide range of electrophilic substrates, playing a key role in cellular detoxification and protection against oxidative stress. The protein is expressed in various tissues, with highest levels in testis, brain, and heart. Structural studies show a typical GST fold with an N-terminal thioredoxin-like domain and a C-terminal alpha-helical domain.

Related Products

Product name Cat.No. Species Gene ID
GSTM5 Knockout HEK293 Cell Line EDJ-KQ4810 Human 2949 Details Get a Quote
GSTM5 Knockout HeLa Cell Line EDJ-KQ53453 Human 2949 Details Get a Quote
GSTM5 Knockout A-549 Cell Line EDJ-KQ61926 Human 2949 Details Get a Quote
GSTM5 Knockout HCT 116 Cell Line EDJ-KQ70407 Human 2949 Details Get a Quote
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