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GLS glutaminase [ Homo sapiens (human) ]

Gene ID: 2744, updated on 5-Jan-2023

Summary

Official Symbol
GLSprovided by HGNC
Official Full Name
glutaminaseprovided by HGNC
Primary source
HGNC:HGNC:4331
See related
Ensembl:ENSG00000115419 MIM:138280; AllianceGenome:HGNC:4331
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; DEE71; 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
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Genomic context

See GLS in Genome Data Viewer
Location:
2q32.2
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190880821..190965552)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191369931..191454659)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191745547..191830278)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907946 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5899 Neighboring gene uncharacterized LOC124906110 Neighboring gene signal transducer and activator of transcription 1 Neighboring gene RAB1A pseudogene 1 Neighboring gene uncharacterized LOC124900514 Neighboring gene uncharacterized LOC107985785 Neighboring gene STAT4 antisense RNA 1

Genomic regions, transcripts, and products

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
enables glutaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glutaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glutaminase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
located_in 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_047299913.1
XP_047299914.1
XP_047299916.1

NCBI Reference Sequences (RefSeq)

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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 (2) summary
    pfam04960
    Location:244528
    Glutaminase
    pfam17959
    Location:139222
    EF-hand_14; EF-hand domain
  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, Q9UN40
    Related
    ENSP00000317379.3, ENST00000320717.8
    Conserved Domains (4) summary
    sd00045
    Location:557583
    ANK; ANK repeat [structural motif]
    pfam04960
    Location:244528
    Glutaminase
    pfam12796
    Location:557649
    Ank_2; Ankyrin repeats (3 copies)
    pfam17959
    Location:139222
    EF-hand_14; EF-hand domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 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 (2) summary
    pfam04960
    Location:244528
    Glutaminase
    pfam17959
    Location:139222
    EF-hand_14; EF-hand domain
  3. XM_047443957.1XP_047299913.1  glutaminase kidney isoform, mitochondrial isoform X3

  4. XM_047443958.1XP_047299914.1  glutaminase kidney isoform, mitochondrial isoform X4

  5. XM_047443960.1XP_047299916.1  glutaminase kidney isoform, mitochondrial isoform X4

RNA

  1. XR_007072653.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    191369931..191454659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)