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

Gene ID: 2752, updated on 5-Jan-2020

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
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
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

Genomic context

See GLUL in Genome Data Viewer
Location:
1q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (182378093..182392206, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182350839..182361341, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.10229 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10230 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
Glutamine deficiency, congenital
MedGen: C1864910 OMIM: 610015 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
dynein light chain binding IEA
Inferred from Electronic Annotation
more info
 
glutamate binding IEA
Inferred from Electronic Annotation
more info
 
glutamate-ammonia ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
manganese ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-cysteine S-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ammonia assimilation cycle IEA
Inferred from Electronic Annotation
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
glutamate catabolic process TAS
Traceable Author Statement
more info
PubMed 
glutamine biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter uptake TAS
Traceable Author Statement
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein palmitoylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein localization to nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
ribosome biogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axon terminus IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
glial cell projection IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

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
XP_006711341.1

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.

Genomic

  1. NG_013347.2 RefSeqGene

    Range
    5001..19114
    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
    UniProtKB/TrEMBL
    A8YXX4
    Related
    ENSP00000356537.5, ENST00000331872.10
    Conserved Domains (1) summary
    cl27748
    Location:22362
    Gln-synt_C; Glutamine synthetase, catalytic domain
  2. NM_001033056.3NP_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
    UniProtKB/TrEMBL
    A8YXX4
    Related
    ENSP00000398320.2, ENST00000417584.6
    Conserved Domains (1) summary
    cl27748
    Location:22362
    Gln-synt_C; Glutamine synthetase, catalytic domain
  3. NM_002065.6NP_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, AK122784, AL139344, AW665656, AW954632, BC011852, BC018992, BF923451, BI668874, BM690132, BQ637044, CD300750, DA151535, DA322310, DB317032
    Consensus CDS
    CCDS1344.1
    UniProtKB/Swiss-Prot
    P15104
    UniProtKB/TrEMBL
    A8YXX4
    Related
    ENSP00000307900.5, ENST00000311223.9
    Conserved Domains (1) summary
    cl27748
    Location:22362
    Gln-synt_C; Glutamine synthetase, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    182378093..182392206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711278.2XP_006711341.1  glutamine synthetase isoform X1

    See identical proteins and their annotated locations for XP_006711341.1

    UniProtKB/Swiss-Prot
    P15104
    UniProtKB/TrEMBL
    A8YXX4
    Related
    ENSP00000344958.4, ENST00000339526.8
    Conserved Domains (1) summary
    cl27748
    Location:22362
    Gln-synt_C; Glutamine synthetase, catalytic domain
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