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GLS glutaminase [ Homo sapiens (human) ]

Gene ID: 2744, updated on 10-Oct-2019

Summary

Official Symbol
GLSprovided by HGNC
Official Full Name
glutaminaseprovided by HGNC
Primary source
HGNC:HGNC:4331
See related
Ensembl:ENSG00000115419 MIM:138280
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAC; GAM; KGA; GLS1; AAD20; GDPAG; CASGID; EIEE71
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]
Expression
Broad expression in kidney (RPKM 48.0), small intestine (RPKM 21.8) and 22 other tissues See more
Orthologs

Genomic context

See GLS in Genome Data Viewer
Location:
2q32.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (190880821..190965552)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191745547..191830278)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nuclear envelope integral membrane protein 2 Neighboring gene uncharacterized LOC105376748 Neighboring gene RN7SK pseudogene 179 Neighboring gene NGFI-A binding protein 1 Neighboring gene uncharacterized LOC105373805 Neighboring gene uncharacterized LOC107985785 Neighboring gene signal transducer and activator of transcription 1 Neighboring gene RAB1A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Alanine, aspartate and glutamate metabolism, organism-specific biosystem (from KEGG)
    Alanine, aspartate and glutamate metabolism, organism-specific biosystem
    Alanine, aspartate and glutamate metabolism
  • Alanine, aspartate and glutamate metabolism, conserved biosystem (from KEGG)
    Alanine, aspartate and glutamate metabolism, conserved biosystem
    Alanine, aspartate and glutamate metabolism
  • Amino Acid metabolism, organism-specific biosystem (from WikiPathways)
    Amino Acid metabolism, organism-specific biosystemA complete overview of the metabolism of all 20 amino acids
  • Amino acid synthesis and interconversion (transamination), organism-specific biosystem (from REACTOME)
    Amino acid synthesis and interconversion (transamination), organism-specific biosystemThese reactions mediate the synthesis of aspartate, asparagine, glutamate, and glutamine from ammonia and intermediates of glycolysis, and allow the utilization of the carbon atoms from these four am...
  • Arginine biosynthesis, organism-specific biosystem (from KEGG)
    Arginine biosynthesis, organism-specific biosystem
    Arginine biosynthesis
  • Arginine biosynthesis, conserved biosystem (from KEGG)
    Arginine biosynthesis, conserved biosystem
    Arginine biosynthesis
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • D-Glutamine and D-glutamate metabolism, organism-specific biosystem (from KEGG)
    D-Glutamine and D-glutamate metabolism, organism-specific biosystem
    D-Glutamine and D-glutamate metabolism
  • D-Glutamine and D-glutamate metabolism, conserved biosystem (from KEGG)
    D-Glutamine and D-glutamate metabolism, conserved biosystem
    D-Glutamine and D-glutamate metabolism
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Glutamate Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Glutamate Neurotransmitter Release Cycle, organism-specific biosystemCommunication at the synapse involves the release of glutamate from the presynaptic neuron and its binding to glutamate receptors on the postsynaptic cell to generate a series of events that lead to ...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • glutamine degradation/glutamate biosynthesis, organism-specific biosystem (from BIOCYC)
    glutamine degradation/glutamate biosynthesis, organism-specific biosystemGeneral Background : GLN "Glutamine" is the most abundant amino acid in the human body. In plasma it functions as a nitrogen carrier between different tissues. It is involved in brain neurotransmitt...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10358, FLJ41499, KIAA0838, DKFZp686D14231, DKFZp686O15119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
glutaminase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
glutamate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glutamate biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
glutamate homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
 
glutamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glutamine catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of respiratory gaseous exchange by neurological system process IEA
Inferred from Electronic Annotation
more info
 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
glutaminase kidney isoform, mitochondrial
Names
K-glutaminase
L-glutamine amidohydrolase
glutaminase C
glutaminase, phosphate-activated
NP_001243239.1
NP_055720.3
XP_005246524.1
XP_006712498.1
XP_016859318.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256310.2NP_001243239.1  glutaminase kidney isoform, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001243239.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005540, AC067945, AF158555, AF223943
    Consensus CDS
    CCDS58744.1
    UniProtKB/Swiss-Prot
    O94925
    UniProtKB/TrEMBL
    Q68D38
    Related
    ENSP00000340689.4, ENST00000338435.8
    Conserved Domains (1) summary
    pfam04960
    Location:244530
    Glutaminase; Glutaminase
  2. NM_014905.5NP_055720.3  glutaminase kidney isoform, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_055720.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005540, AC067945, AF223943, BC038507
    Consensus CDS
    CCDS2308.1
    UniProtKB/Swiss-Prot
    O94925
    Related
    ENSP00000317379.3, ENST00000320717.7
    Conserved Domains (4) summary
    cd00204
    Location:557642
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:244530
    Glutaminase; Glutaminase
    pfam13637
    Location:587639
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:557583
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    190880821..190965552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712435.1XP_006712498.1  glutaminase kidney isoform, mitochondrial isoform X1

    Conserved Domains (2) summary
    pfam04960
    Location:244530
    Glutaminase; Glutaminase
    pfam12796
    Location:557597
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_005246467.3XP_005246524.1  glutaminase kidney isoform, mitochondrial isoform X2

    Conserved Domains (1) summary
    pfam04960
    Location:244530
    Glutaminase; Glutaminase
  3. XM_017003829.1XP_016859318.1  glutaminase kidney isoform, mitochondrial isoform X3

RNA

  1. XR_922905.2 RNA Sequence

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