GGT5 Gene - Gamma-Glutamyltransferase 5
A member of the gamma-glutamyltransferase family involved in glutathione metabolism and leukotriene biosynthesis.
Gene Information Card
| Symbol | GGT5 |
|---|---|
| Full Name | Gamma-glutamyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 2687 ncbi.nlm.nih.gov/gene/2687 |
| Ensembl ID | ENSG00000100099 |
| UniProt ID | P36269 |
| OMIM ID | 137168 |
| HGNC ID | 4259 |
| Aliases | GGT-5, GGTLA1, GGT-rel |
Description
GGT5 (gamma-glutamyltransferase 5) encodes a member of the gamma-glutamyltransferase family. This enzyme catalyzes the transfer of the gamma-glutamyl moiety from glutathione to amino acids or peptides, playing a key role in glutathione metabolism and leukotriene biosynthesis. GGT5 is particularly involved in the conversion of leukotriene C4 to leukotriene D4, a potent inflammatory mediator.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukotriene-mediated inflammation | GGT5 catalyzes conversion of LTC4 to LTD4, promoting inflammatory signaling | PMID: 10551839 |
| Glutathione metabolism disorders | Altered GGT5 activity may affect glutathione homeostasis | PMID: 15907789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Small intestine | 6.5 | Low |
| Lung | 4.2 | Low |
| Spleen | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in kidney-derived line |
| HepG2 | 9.8 | Moderate expression in liver line |
| A549 | 5.4 | Low expression in lung line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.245C>T | Nonsense | <0.01% | Predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants may reduce enzyme activity, impairing glutathione metabolism.
Gain of Function (GOF)
Not reported in COSMIC or ClinVar.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • gamma-glutamyltransferase activity (GO:0003840) | • glutathione biosynthetic process (GO:0006750) |
| • leukotriene metabolic process (GO:0006691) | • hydrolase activity (GO:0016787) |
Pathways
• Glutathione metabolism (KEGG: hsa00480)
• Leukotriene biosynthesis (Reactome: R-HSA-2142691)
Protein Summary
The GGT5 protein is a membrane-bound enzyme that catalyzes the hydrolysis of gamma-glutamyl bonds and the transfer of gamma-glutamyl groups. It is essential for the conversion of leukotriene C4 to leukotriene D4, a key step in the inflammatory response. The protein is expressed in tissues with high metabolic activity, such as kidney and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GGT5 Knockout HEK293 Cell Line | EDJ-KQ3265 | Human | 2687 | Details Get a Quote |
| GGT5 Knockout HeLa Cell Line | EDJ-KQ53334 | Human | 2687 | Details Get a Quote |
| GGT5 Knockout A-549 Cell Line | EDJ-KQ61814 | Human | 2687 | Details Get a Quote |
| GGT5 Knockout HCT 116 Cell Line | EDJ-KQ70301 | Human | 2687 | Details Get a Quote |
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