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

Gene ID: 2752, updated on 17-Jun-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
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Genomic context

See GLUL in Genome Data Viewer
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)

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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.

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)