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    GLUL glutamate-ammonia ligase [ Homo sapiens (human) ]

    Gene ID: 2752, updated on 5-May-2024

    Summary

    Official Symbol
    GLULprovided by HGNC
    Official Full Name
    glutamate-ammonia ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:4341
    See related
    Ensembl:ENSG00000135821 MIM:138290; AllianceGenome:HGNC:4341
    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
    GS; GLNS; PIG43; PIG59; DEE116
    Summary
    The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in fat (RPKM 227.2), brain (RPKM 128.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182378098..182391790, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181737671..181751363, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182347233..182360925, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L18 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182306445-182307080 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10229 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10230 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13543 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:182354799-182355998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1618 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:182373283-182373464 Neighboring gene transmembrane epididymal protein 1 Neighboring gene long intergenic non-protein coding RNA 272

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital brain dysgenesis due to glutamine synthetase deficiency
    MedGen: C1864910 OMIM: 610015 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 significantly reduces the activity of glutamine synthase (GS) in human cultured astroglial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutamine synthetase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glutamine synthetase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-cysteine S-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    glutamine synthetase
    Names
    cell proliferation-inducing protein 59
    glutamate decarboxylase
    glutamine synthase
    palmitoyltransferase GLUL
    proliferation-inducing protein 43
    NP_001028216.1
    NP_001028228.1
    NP_002056.2

    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.

    Genomic

    1. NG_013347.2 RefSeqGene

      Range
      5417..19109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033044.4NP_001028216.1  glutamine synthetase

      See identical proteins and their annotated locations for NP_001028216.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Both variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AI147221, AI286093, AL139344, AW665656, AW954632, BC011852, BF923451, BI668874, BM690132, BQ637044, CD300750, DA151535, DA322310, DB317032
      Consensus CDS
      CCDS1344.1
      UniProtKB/Swiss-Prot
      P15104, Q499Y9, Q5T9Z1, Q7Z3W4, Q8IZ17
      UniProtKB/TrEMBL
      A0A024R956, A8YXX4
      Related
      ENSP00000356537.6, ENST00000331872.11
      Conserved Domains (1) summary
      PLN02284
      Location:22362
      PLN02284; glutamine synthetase
    2. NM_001033056.4NP_001028228.1  glutamine synthetase

      See identical proteins and their annotated locations for NP_001028228.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AI147221, AI286093, AL139344, AW665656, AW954632, BC011852, BF923451, BI668874, BM690132, BQ637044, CD300750, DA151535, DA322310, DA456371, DB317032
      Consensus CDS
      CCDS1344.1
      UniProtKB/Swiss-Prot
      P15104, Q499Y9, Q5T9Z1, Q7Z3W4, Q8IZ17
      UniProtKB/TrEMBL
      A0A024R956, A8YXX4
      Related
      ENSP00000398320.2, ENST00000417584.6
      Conserved Domains (1) summary
      PLN02284
      Location:22362
      PLN02284; glutamine synthetase
    3. NM_002065.7NP_002056.2  glutamine synthetase

      See identical proteins and their annotated locations for NP_002056.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AI147221, AI286093, AL139344, AW665656, AW954632, BC011852, BC018992, BF923451, BI668874, BM690132, BQ637044, CD300750, DA151535, DA322310, DB317032
      Consensus CDS
      CCDS1344.1
      UniProtKB/Swiss-Prot
      P15104, Q499Y9, Q5T9Z1, Q7Z3W4, Q8IZ17
      UniProtKB/TrEMBL
      A0A024R956, A8YXX4
      Related
      ENSP00000307900.5, ENST00000311223.9
      Conserved Domains (1) summary
      PLN02284
      Location:22362
      PLN02284; glutamine synthetase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      182378098..182391790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      181737671..181751363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)