GGTLC1
Gamma-glutamyltransferase light chain 1
Gene Information Card
| Symbol | GGTLC1 |
|---|---|
| Full Name | Gamma-glutamyltransferase light chain 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 92086 ncbi.nlm.nih.gov/gene/92086 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9UJ14 |
| OMIM ID | 612341 |
| HGNC ID | 4257 |
| Aliases | GGTLA1, GGT-rel, dJ383J4.1 |
Description
GGTLC1 encodes a member of the gamma-glutamyltransferase (GGT) family. This protein is the light chain subunit of GGT, which catalyzes the transfer of the gamma-glutamyl group from glutathione to amino acids or water, playing a key role in glutathione metabolism and cellular redox homeostasis. The gene is located on chromosome 22q11.23 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glutathionuria | Deficiency in gamma-glutamyltransferase activity leads to increased urinary glutathione | ClinVar, OMIM |
| Renal disease | Altered GGT activity associated with oxidative stress and kidney dysfunction | NCBI Gene, PubMed |
| Cancer (various) | Aberrant GGT expression linked to tumor progression and drug resistance | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Pancreas | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 7.2 | Moderate expression |
| MCF7 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82His) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.358C>T (p.Arg120*) | Nonsense | <0.01% | Loss of function predicted |
| c.472_473del (p.Leu158fs) | Frameshift | <0.01% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants likely cause loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • gamma-glutamyltransferase activity (GO:0003840) | • glutathione biosynthetic process (GO:0006750) |
| • glutathione metabolic process (GO:0006749) | • hydrolase activity (GO:0016787) |
| • plasma membrane (GO:0005886) |
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Gamma-glutamyl cycle (KEGG: hsa00480)
Protein Summary
GGTLC1 is the light chain subunit of gamma-glutamyltransferase, a heterodimeric enzyme anchored to the plasma membrane. The light chain contains the catalytic domain responsible for cleaving gamma-glutamyl bonds. It is essential for glutathione turnover and detoxification processes. The protein is expressed in kidney, liver, and other tissues with high metabolic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GGTLC1 Knockout HEK293 Cell Line | EDJ-KQ10830 | Human | 92086 | Details Get a Quote |
| GGTLC1 Knockout HeLa Cell Line | EDJ-KQ57823 | Human | 92086 | Details Get a Quote |
| GGTLC1 Knockout A-549 Cell Line | EDJ-KQ66320 | Human | 92086 | Details Get a Quote |
| GGTLC1 Knockout HCT 116 Cell Line | EDJ-KQ74744 | Human | 92086 | Details Get a Quote |
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