GLS - glutaminase Gene
Also Known as GAC; GAM; KGA; GLS1; AAD20; DEE71; GDPAG; CASGID; EIEE71
Species: Homo sapiens
About GLS
This gene has 15 transcripts (splice variants), 305 orthologues, 1 paralogue and is associated with 5 phenotypes. Broad expression in kidney (RPKM 48.0), small intestine (RPKM 21.8) and 22 other tissues.
Summary
This gene encodes the K-type mitochondrial Glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
GLS Products (8)
| mRNA | Protein | Name |
|---|---|---|
| XM_047443960.1 | XP_047299916.1 | glutaminase kidney isoform, mitochondrial isoform X4 |
| XM_005246467.3 | XP_005246524.1 | glutaminase kidney isoform, mitochondrial isoform X2 |
| XM_047443957.1 | XP_047299913.1 | glutaminase kidney isoform, mitochondrial isoform X3 |
| XR_007072653.1 | ||
| NM_014905.5 | NP_055720.3 | glutaminase kidney isoform, mitochondrial isoform 1 precursor |
| XM_047443958.1 | XP_047299914.1 | glutaminase kidney isoform, mitochondrial isoform X4 |
| NM_001256310.2 | NP_001243239.1 | glutaminase kidney isoform, mitochondrial isoform 2 |
| XM_006712435.1 | XP_006712498.1 | glutaminase kidney isoform, mitochondrial isoform X1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables glutaminase activity |
IDA
IDA: Inferred from direct assay
|
22049910 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16899818 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in glutamate biosynthetic process |
IDA
IDA: Inferred from direct assay
|
16899818 | GOA |
| involved in glutamine catabolic process |
IDA
IDA: Inferred from direct assay
|
22049910 | GOA |
| involved in intracellular glutamate homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
30239721 | GOA |
| involved in protein homotetramerization |
IDA
IDA: Inferred from direct assay
|
22049910 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
16899818 | GOA |
GLS Protein Structure
Glutaminase: Glutaminase (244 - 530)
Ank_2: Ankyrin repeats (3 copies) (557 - 643)
- 0
- 200
- 400
- 600
- 669 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glutaminase kidney isoform, mitochondrial |
|
|
GLS Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80690 | Glutaminase Antibody (YA406) | WB, ICC/IF, IP | Human, Mouse, Rat |
| HY-P80690A | Glutaminase Antibody (YA406)(PBS only) | WB, ICC/IF, IP | Human, Mouse, Rat |
| HY-P86596 | Glutaminase Antibody (YA6288) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy |
|
|
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
|
| Esophageal Atresia |
|
|
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Developmental And Epileptic Encephalopathy 71 |
|
|
| Hepatic Encephalopathy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency |
|
|
| Schizophrenia |
|
|
| Cataract |
|
|
| Pylorus Cancer |
|
|
| Autosomal Recessive Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GLS | VGNC | VGNC:62594 |
| Mus musculus | GLS | MGD | MGI:95752 |
| Macaca mulatta | GLS | VGNC | VGNC:99365 |
| Bos taurus | GLS | VGNC | VGNC:29419 |
| Canis familiaris | GLS | VGNC | VGNC:41276 |
| Rattus norvegicus | GLS | RGD | RGD:2707 |
| Others | GLS | NCBI |