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Aliases for GLUL Gene

Aliases for GLUL Gene

  • Glutamate-Ammonia Ligase 2 3 5
  • Glutamate Decarboxylase 3 4
  • EC 6.3.1.2 4 63
  • GLNS 3 4
  • GS 3 4
  • Glutamate-Ammonia Ligase (Glutamine Synthase) 2
  • Cell Proliferation-Inducing Protein 59 3
  • Proliferation-Inducing Protein 43 3
  • Glutamate--Ammonia Ligase 4
  • Glutamine Synthetase 2
  • Glutamine Synthase 3
  • EC 4.1.1.15 4
  • PIG43 3
  • PIG59 3

External Ids for GLUL Gene

Previous HGNC Symbols for GLUL Gene

  • GLNS

Previous GeneCards Identifiers for GLUL Gene

  • GC01M179878
  • GC01M177780
  • GC01M178872
  • GC01M179592
  • GC01M179593
  • GC01M179083
  • GC01M180617
  • GC01M153587

Summaries for GLUL Gene

Entrez Gene Summary for GLUL Gene

  • 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]

GeneCards Summary for GLUL Gene

GLUL (Glutamate-Ammonia Ligase) is a Protein Coding gene. Diseases associated with GLUL include Glutamine Deficiency, Congenital and Adenomatous Polyposis Coli. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and manganese ion binding.

UniProtKB/Swiss-Prot for GLUL Gene

  • This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLUL Gene

Genomics for GLUL Gene

Regulatory Elements for GLUL Gene

Enhancers for GLUL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GLUL on UCSC Golden Path with GeneCards custom track

Promoters for GLUL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GLUL on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GLUL gene promoter:

Genomic Location for GLUL Gene

Chromosome:
1
Start:
182,378,093 bp from pter
End:
182,392,206 bp from pter
Size:
14,114 bases
Orientation:
Minus strand

Genomic View for GLUL Gene

Genes around GLUL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLUL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLUL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLUL Gene

Proteins for GLUL Gene

  • Protein details for GLUL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15104-GLNA_HUMAN
    Recommended name:
    Glutamine synthetase
    Protein Accession:
    P15104
    Secondary Accessions:
    • Q499Y9
    • Q5T9Z1
    • Q7Z3W4
    • Q8IZ17

    Protein attributes for GLUL Gene

    Size:
    373 amino acids
    Molecular mass:
    42064 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homooctamer and homotetramer. Interacts with PALMD (By similarity).

    Three dimensional structures from OCA and Proteopedia for GLUL Gene

neXtProt entry for GLUL Gene

Proteomics data for GLUL Gene at MOPED

Post-translational modifications for GLUL Gene

  • Ubiquitinated by ZNRF1.
  • Ubiquitination at Lys 14, Lys 25, Lys 91, Lys 95, Lys 103, Lys 259, Lys 268, Lys 276, Lys 291, Lys 334, and Lys 372
  • Modification sites at PhosphoSitePlus

Other Protein References for GLUL Gene

Domains & Families for GLUL Gene

Graphical View of Domain Structure for InterPro Entry

P15104

UniProtKB/Swiss-Prot:

GLNA_HUMAN :
  • Belongs to the glutamine synthetase family.
Family:
  • Belongs to the glutamine synthetase family.
genes like me logo Genes that share domains with GLUL: view

No data available for Gene Families for GLUL Gene

Function for GLUL Gene

Molecular function for GLUL Gene

GENATLAS Biochemistry:
L-glutamine synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamate + NH(3) = ADP + phosphate + L-glutamine.
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamate = 4-aminobutanoate + CO(2).
UniProtKB/Swiss-Prot Function:
This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts.
UniProtKB/Swiss-Prot Induction:
By glucocorticoids. Vitamin D and the Wnt signaling pathway inhibit its expression and activity.

Enzyme Numbers (IUBMB) for GLUL Gene

Gene Ontology (GO) - Molecular Function for GLUL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004351 glutamate decarboxylase activity IEA --
genes like me logo Genes that share ontologies with GLUL: view
genes like me logo Genes that share phenotypes with GLUL: view

Human Phenotype Ontology for GLUL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLUL Gene

MGI Knock Outs for GLUL:

Animal Model Products

miRNA for GLUL Gene

miRTarBase miRNAs that target GLUL

No data available for Transcription Factor Targets and HOMER Transcription for GLUL Gene

Localization for GLUL Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLUL Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLUL Gene COMPARTMENTS Subcellular localization image for GLUL gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GLUL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005791 rough endoplasmic reticulum IEA --
GO:0043204 perikaryon IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with GLUL: view

Pathways & Interactions for GLUL Gene

genes like me logo Genes that share pathways with GLUL: view

Gene Ontology (GO) - Biological Process for GLUL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake TAS --
GO:0006536 glutamate metabolic process IEA --
GO:0006542 glutamine biosynthetic process IEA,TAS 21757002
GO:0006807 nitrogen compound metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with GLUL: view

No data available for SIGNOR curated interactions for GLUL Gene

Drugs & Compounds for GLUL Gene

(52) Drugs for GLUL Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceftriaxone Approved Pharma Enzyme, inducer 113
Diazoxide Approved Pharma Activator, Enzyme, inhibitor Blocks desensitization of AMPA receptors 21
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Target, product of 0
L-Methionine Approved Nutra Enzyme, inhibitor 0
Pegvisomant Approved Pharma Enzyme, inhibitor 0

(58) Additional Compounds for GLUL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with GLUL: view

Transcripts for GLUL Gene

Unigene Clusters for GLUL Gene

Glutamate-ammonia ligase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLUL Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - - -
SP14: - - -
SP15: - - - - - - - - - - - - -
SP16: - - - - - - - -
SP17:
SP18: -
SP19: -
SP20: - -

ExUns: 13c · 13d · 13e · 13f ^ 14a · 14b · 14c ^ 15a · 15b · 15c · 15d
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6:
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17: - -
SP18:
SP19:
SP20:

Relevant External Links for GLUL Gene

GeneLoc Exon Structure for
GLUL
ECgene alternative splicing isoforms for
GLUL

Expression for GLUL Gene

mRNA expression in normal human tissues for GLUL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLUL Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for GLUL Gene

This gene is overexpressed in Retina (28.0), Frontal cortex (10.4), Cervix (6.8), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLUL Gene



SOURCE GeneReport for Unigene cluster for GLUL Gene Hs.518525

genes like me logo Genes that share expression patterns with GLUL: view

Protein tissue co-expression partners for GLUL Gene

No data available for mRNA Expression by UniProt/SwissProt for GLUL Gene

Orthologs for GLUL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLUL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLUL 35
  • 89.54 (n)
  • 96.25 (a)
GLUL 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLUL 35
  • 90.8 (n)
  • 97.32 (a)
-- 36
  • 84 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
GLUL 36
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Glul 35
  • 89.45 (n)
  • 94.64 (a)
Glul 16
Glul 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLUL 35
  • 99.64 (n)
  • 100 (a)
GLUL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glul 35
  • 86.86 (n)
  • 92.49 (a)
oppossum
(Monodelphis domestica)
Mammalia GLUL 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLUL 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLUL 35
  • 78.91 (n)
  • 88.74 (a)
GLUL 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLUL 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glul 35
  • 75.07 (n)
  • 85.52 (a)
LOC394904 35
African clawed frog
(Xenopus laevis)
Amphibia glul-prov 35
zebrafish
(Danio rerio)
Actinopterygii glulb 35
  • 75.92 (n)
  • 87.33 (a)
glula 36
  • 85 (a)
OneToMany
glulb 36
  • 86 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11265 35
fruit fly
(Drosophila melanogaster)
Insecta Gs1 37
  • 58 (a)
Gs2 37
  • 60 (a)
Gs1 35
  • 60.77 (n)
  • 61.05 (a)
Gs1 36
  • 54 (a)
OneToMany
Gs2 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008988 35
  • 58.24 (n)
  • 58.33 (a)
worm
(Caenorhabditis elegans)
Secernentea C28D4.3 37
  • 57 (a)
F26D10.10 37
  • 60 (a)
qrs-1 37
  • 59 (a)
qrs-2 37
  • 58 (a)
Y105C5B.28 37
  • 64 (a)
gln-1 35
  • 59.13 (n)
  • 60 (a)
gln-1 36
  • 54 (a)
OneToMany
gln-2 36
  • 55 (a)
OneToMany
gln-3 36
  • 59 (a)
OneToMany
gln-5 36
  • 57 (a)
OneToMany
gln-6 36
  • 55 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR182C 35
  • 58.55 (n)
  • 57.97 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06293g 35
  • 56.73 (n)
  • 57.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLN1 35
  • 57.12 (n)
  • 57.02 (a)
GLN1 36
  • 53 (a)
OneToOne
GLN1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GSR2 35
  • 56.76 (n)
  • 56.76 (a)
soybean
(Glycine max)
eudicotyledons Gma.3518 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1208 35
barley
(Hordeum vulgare)
Liliopsida Hv.331 35
rice
(Oryza sativa)
Liliopsida Os.7879 35
Os03g0223400 35
  • 59.06 (n)
  • 56.76 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.24508 35
corn
(Zea mays)
Liliopsida Zm.45 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06724 35
  • 60.28 (n)
  • 59.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gln1 35
  • 58.31 (n)
  • 56.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.392 36
  • 67 (a)
OneToOne
Species with no ortholog for GLUL:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GLUL Gene

ENSEMBL:
Gene Tree for GLUL (if available)
TreeFam:
Gene Tree for GLUL (if available)

Paralogs for GLUL Gene

(3) SIMAP similar genes for GLUL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GLUL: view

No data available for Paralogs for GLUL Gene

Variants for GLUL Gene

Sequence variations from dbSNP and Humsavar for GLUL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_026560 Congenital systemic glutamine deficiency (CSGD)
VAR_026561 Congenital systemic glutamine deficiency (CSGD)
rs7734 -- 182,383,486(-) CAGAC(A/G/T)ACACG utr-variant-3-prime
rs8527 -- 182,383,585(-) AAGTG(A/G)TTCTT utr-variant-3-prime
rs8762 -- 182,383,483(-) ACAAC(A/G)CGTTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GLUL Gene

Variant ID Type Subtype PubMed ID
esv22717 CNV Loss 19812545

Variation tolerance for GLUL Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLUL Gene

Human Gene Mutation Database (HGMD)
GLUL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLUL Gene

Disorders for GLUL Gene

MalaCards: The human disease database

(16) MalaCards diseases for GLUL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glutamine deficiency, congenital
  • congenital glutamine deficiency
adenomatous polyposis coli
  • brain tumor-polyposis syndrome 2
desmoid disease, hereditary
  • familial infiltrative fibromatosis
congenital brain dysgenesis due to glutamine synthetase deficiency
  • inherited gs deficiency
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
- elite association - COSMIC cancer census association via MalaCards
Search GLUL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLNA_HUMAN
  • Congenital systemic glutamine deficiency (CSGD) [MIM:610015]: Rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid. {ECO:0000269 PubMed:16267323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLUL

Genetic Association Database (GAD)
GLUL
Human Genome Epidemiology (HuGE) Navigator
GLUL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLUL
genes like me logo Genes that share disorders with GLUL: view

No data available for Genatlas for GLUL Gene

Publications for GLUL Gene

  1. cDNA sequence of the long mRNA for human glutamine synthase. (PMID: 1681907) van den Hoff M.J.B. … Lamers W.H. (Biochim. Biophys. Acta 1991) 2 3 4 67
  2. Estradiol modulation of astrocytic form and function: implications for hormonal control of synaptic communication. (PMID: 16326016) Mong J.A. … Blutstein T. (Neuroscience 2006) 23 25 26
  3. Limited capacity for ammonia removal by brain in chronic liver failure: potential role of nitric oxide. (PMID: 16382338) Rose C. … Felipo V. (Metab Brain Dis 2005) 23 25 26
  4. Glutamine synthetase immunostaining correlates with pathologic features of hepatocellular carcinoma and better survival after radiofrequency thermal ablation. (PMID: 20233882) Dal Bello B. … Silini E.M. (Clin. Cancer Res. 2010) 3 23
  5. Glutamine synthetase as an early marker for hepatocellular carcinoma based on proteomic analysis of resected small hepatocellular carcinomas. (PMID: 20525558) Long J. … Liu S.Q. (HBPD INT 2010) 3 23

Products for GLUL Gene

Sources for GLUL Gene

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