GLS - glutaminase Gene

Homo sapiens

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

Gene ID: 2744 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

Ank_2

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

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

Related Agents

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-12248	Telaglenastat		99.82%	Phase 2
HY-128357	Ibezapolstat	Inhibitor	≥98.0%	Phase 2
HY-P2760	Glutaminase		/	Phase 2
HY-103671A	IPN60090 dihydrochloride	Inhibitor	99.68%	Phase 1

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99109	Zimberelimab	Inhibitor	99.90%	Phase 3

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108917	Morphothiadin	Inhibitor	99.84%	Unkown
HY-103671	IPN60090	Inhibitor	99.47%	Unkown
HY-79583	Glutaminase-IN-3	Inhibitor	98.47%	Unkown
HY-144666	GLS-1-IN-1	Inhibitor	99.64%	Unkown
HY-151434	GLS1 Inhibitor-6		/	Unkown
HY-12248A	Telaglenastat hydrochloride		/	Unkown
HY-128357A	Ibezapolstat hydrochloride	Inhibitor	/	Unkown
HY-136704	GLS1 Inhibitor-1	Inhibitor	/	Unkown
HY-146616	GLS1 Inhibitor-3	Inhibitor	/	Unkown
HY-146617	GLS1 Inhibitor-4		/	Unkown
HY-146658	Glutaminase-IN-4	Inhibitor	/	Unkown
HY-148241	A-446	Inhibitor	/	Unkown
HY-152207	LWG-301		/	Unkown
HY-155138	GLS1 Inhibitor-7	Inhibitor	/	Unkown
HY-RS05500	GLS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05501	Gls Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05502	Gls Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05503	GLS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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