GLS (Glutaminase) Gene
Key enzyme in glutamine metabolism, implicated in cancer and neurological disorders
Gene Information Card
| Symbol | GLS |
|---|---|
| Full Name | Glutaminase |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.2 |
| NCBI Gene ID | 2744 ncbi.nlm.nih.gov/gene/2744 |
| Ensembl ID | ENSG00000115419 |
| UniProt ID | O94925 |
| OMIM ID | 138280 |
| HGNC ID | 4331 |
| Aliases | GLS1, KGA, GAC, GA, glutaminase kidney isoform |
Description
The GLS gene encodes glutaminase, a mitochondrial enzyme that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This reaction is a key step in glutamine metabolism, providing carbon and nitrogen for cellular biosynthesis and energy production. GLS is highly expressed in kidney and brain, and its dysregulation is associated with cancer cell proliferation and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Increased glutaminase activity supports tumor growth by providing glutamine-derived metabolites for biosynthesis and energy. | PMID: 23260145, COSMIC |
| Glutaminase deficiency | Loss-of-function mutations impair glutamine metabolism, leading to neurological symptoms. | OMIM #138280 |
| Epilepsy | Altered glutaminase expression affects glutamate levels in the brain, contributing to seizure susceptibility. | PMID: 21795692 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Brain | 15.2 | Medium |
| Liver | 3.1 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.1 | High expression |
| HeLa | 12.4 | Medium expression |
| MCF7 | 8.7 | Medium expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.820G>A (p.Glu274Lys) | Missense | <0.01% | Reduced enzymatic activity |
| c.1195C>T (p.Arg399Trp) | Missense | <0.01% | Loss of function |
| c.1462G>A (p.Glu488Lys) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Glu274Lys and p.Arg399Trp reduce or abolish glutaminase activity, impairing glutamine metabolism.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in GLS.
Dominant Negative (DN)
No evidence for dominant-negative effects in GLS.
View complete mutation data：
Gene Ontology (GO)
| • glutaminase activity | • glutamine metabolic process |
| • mitochondrion | • response to nutrient |
Pathways
• Glutamine metabolism
• Amino acid metabolism
• Metabolic reprogramming in cancer
Protein Summary
Glutaminase (UniProt O94925) is a mitochondrial enzyme that converts glutamine to glutamate and ammonia. It exists as two main splice variants: kidney-type glutaminase (KGA) and glutaminase C (GAC). The enzyme is a homotetramer and is allosterically activated by phosphate. It plays a critical role in cellular metabolism, particularly in rapidly proliferating cells such as cancer cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLS Knockout HEK293 Cell Line | EDJ-KQ3970 | Human | 2744 | Details Get a Quote |
| GLS2 Knockout HEK293 Cell Line | EDJ-KQ8704 | Human | 27165 | Details Get a Quote |
| GLS2 Knockout HeLa Cell Line | EDJ-KQ34929 | Human | 27165 | Details Get a Quote |
| GLS Knockout A-549 Cell Line | EDJ-KQ26250 | Human | 2744 | Details Get a Quote |
| GLS Knockout HCT 116 Cell Line | EDJ-KQ26251 | Human | 2744 | Details Get a Quote |
| GLS Knockout HeLa Cell Line | EDJ-KQ26252 | Human | 2744 | Details Get a Quote |
| GLS2 Knockout A-549 Cell Line | EDJ-KQ64506 | Human | 27165 | Details Get a Quote |
| GLS2 Knockout HCT 116 Cell Line | EDJ-KQ72964 | Human | 27165 | Details Get a Quote |
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