GLS - glutaminase Gene

Also Known as GAC; GAM; KGA; GLS1; AAD20; DEE71; GDPAG; CASGID; EIEE71

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2744

About GLS

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:190,880,821-190,965,552 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLS Protein Structure

Glutaminase

Glutaminase: Glutaminase (244 - 530)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (557 - 643)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
Protein Preferred Names Protein Names

glutaminase kidney isoform, mitochondrial

  • K-glutaminase

  • L-glutamine amidohydrolase

  • glutaminase C

  • glutaminase, phosphate-activated

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
  • Encephalopathy, Developmental And Epileptic

Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
  • CASGID

Esophageal Atresia
  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia

Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
  • GDPAG

  • Glutaminase Deficiency With Impaired Intellectual Development And Progressive Ataxia

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Developmental And Epileptic Encephalopathy 71
  • DEE71

  • Epileptic Encephalopathy, Early Infantile, 71

  • Glutaminase Deficiency With Neonatal Epileptic Encephalopathy

  • Eiee71

  • Developmental And Epileptic Encephalopathy, 71

  • Early Infantile Epileptic Encephalopathy 71

  • Neonatal Epileptic Encephalopathy Due To Glutaminase Deficiency

Hepatic Encephalopathy
  • Encephalopathy, Hepatic

  • Portal-Systemic Encephalopathy

  • Hepatoencephalopathy

  • He - [Hepatic Encephalopathy]

  • Hepatic Encephalopathy Nos

  • Hepatic Encephalopathy, Stage Unspecified

  • Hepatic Coma

  • Hepatocerebral Encephalopathy

  • Hepatocerebral Intoxication

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency
Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Pylorus Cancer
  • Ca Pylorus - Stomach

  • Malignant Neoplasm Of Prepylorus

  • Malignant Neoplasm Of Pylorus Of Stomach

  • Malignant Tumor Of Pylorus

  • Malignant Neoplasm Of Pylorus

Autosomal Recessive Disease
  • Autosomal Recessive Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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