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GLS glutaminase [ Homo sapiens (human) ]

Gene ID: 2744, updated on 4-Oct-2020

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
109.20200815 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 NGFI-A binding protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5899 Neighboring gene signal transducer and activator of transcription 1 Neighboring gene RAB1A pseudogene 1 Neighboring gene uncharacterized LOC105373805 Neighboring gene uncharacterized LOC107985785

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 PubChem

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, ENST00000320717.8
    Conserved Domains (4) summary
    sd00045
    Location:557583
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:557647
    Ank_2; Ankyrin repeats (3 copies)
    pfam17959
    Location:139222
    EF-hand_14; EF-hand domain
    pfam04960
    Location:244530
    Glutaminase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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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