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    GLS glutaminase [ Homo sapiens (human) ]

    Gene ID: 2744, updated on 7-Jan-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GLS in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190880821..190965552)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 12183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16864 Neighboring gene NGFI-A binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16866 Neighboring gene uncharacterized LOC124907946 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:191624535-191625734 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5899 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191655893-191657092 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191708051-191709250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:191734008-191734548 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:191734549-191735087 Neighboring gene uncharacterized LOC124906110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191746471-191747670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12190 Neighboring gene signal transducer and activator of transcription 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16876 Neighboring gene RAB1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16877 Neighboring gene uncharacterized LOC124900514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191885525-191886142 Neighboring gene uncharacterized LOC107985785 Neighboring gene STAT4 antisense RNA 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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
    XP_054197382.1
    XP_054197383.1
    XP_054197384.1
    XP_054197385.1
    XP_054197386.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      A8K132
      Related
      ENSP00000340689.4, ENST00000338435.9
      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, Q9UL05, Q9UL06, Q9UL07, Q9UN40
      UniProtKB/TrEMBL
      A8K132
      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: GCF_000001405.40-RS_2023_10

    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

      UniProtKB/TrEMBL
      A8K132, H7C201
      Related
      ENSP00000403329.2, ENST00000412247.2
      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

      UniProtKB/TrEMBL
      A8K132
      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

      UniProtKB/TrEMBL
      Q53S89
    5. XM_047443960.1XP_047299916.1  glutaminase kidney isoform, mitochondrial isoform X4

      UniProtKB/TrEMBL
      Q53S89

    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)

    mRNA and Protein(s)

    1. XM_054341407.1XP_054197382.1  glutaminase kidney isoform, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A8K132, H7C201
    2. XM_054341408.1XP_054197383.1  glutaminase kidney isoform, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A8K132
    3. XM_054341409.1XP_054197384.1  glutaminase kidney isoform, mitochondrial isoform X3

    4. XM_054341410.1XP_054197385.1  glutaminase kidney isoform, mitochondrial isoform X4

      UniProtKB/TrEMBL
      Q53S89
    5. XM_054341411.1XP_054197386.1  glutaminase kidney isoform, mitochondrial isoform X4

      UniProtKB/TrEMBL
      Q53S89

    RNA

    1. XR_008486324.1 RNA Sequence