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Aliases for GLUL Gene

Aliases for GLUL Gene

  • Glutamate-Ammonia Ligase 2 3 5
  • Glutamate Decarboxylase 3 4
  • Glutamine Synthetase 2 3
  • EC 6.3.1.2 4 56
  • 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 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 Hepatocellular Adenoma. Among its related pathways are Circadian entrainment and Transmission across Chemical Synapses. Gene Ontology (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.

Additional gene information for GLUL Gene

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

Genomics for GLUL Gene

GeneHancer (GH) Regulatory Elements for GLUL Gene

Promoters and enhancers for GLUL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I182388 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556.5 +1.4 1366 5 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GLUL DHX9 HMGN1P4 LAMC1-AS1 RNASEL LAMC2 TEDDM1 EIF1P3
GH01I182142 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +245.6 245559 7.8 PKNOX1 FOXA2 ARNT YY1 ZNF143 DEK REST ZNF592 SMARCA4 GLIS1 GLUL TEDDM1 RPL18P2 RNU6-152P RGS16 RGSL1 RNASEL ENSG00000232309 GC01M182183 LINC01344
GH01I182257 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +133.0 132963 3.3 PKNOX1 ATF1 NCOA2 ZNF280A TCF12 POLR2B ZNF766 CBX5 GATA2 ATF7 DHX9 GLUL LAMC1-AS1 TEDDM1 RNU6-152P RPL18P2 RNASEL LINC01344 YPEL5P1
GH01I182299 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +91.2 91214 3.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B YBX1 FEZF1 DMAP1 DHX9 HMGN1P4 LAMC1 GLUL RNU6-152P RPL18P2 EIF1P3 LINC01344 YPEL5P1
GH01I182173 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +217.3 217341 2.5 ELF3 PKNOX1 FOXA2 INSM2 KLF17 MZF1 FEZF1 GLI4 ZNF2 ZNF366 GLUL TEDDM1 RNU6-152P RPL18P2 RNASEL GC01M182183 ENSG00000232309 LINC01344
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GLUL on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GLUL Gene

Genomic Locations for GLUL Gene
chr1:182,378,093-182,392,206
(GRCh38/hg38)
Size:
14,114 bases
Orientation:
Minus strand
chr1:182,350,839-182,361,341
(GRCh37/hg19)

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

Selected DME Specific Peptides for GLUL Gene

P15104:
  • DFGVIATFD
  • HETSNIN
  • WNGAGCHTN
  • PSANCDP
  • TSASSHLNKGIKQ
  • YIWIDGT
  • WIDGTGE
  • AQWEFQIGPCEGI
  • GYFEDRRP
  • NRSASIRIP
  • GFPGPQG
  • RTCLLNETG
  • GTNAEVM
  • RDIVEAHY
  • LPQGEKVQ
  • WNFDGSST
  • RCKTRTLD
  • SNSDMYL
  • RFILHRVCEDFG
  • PQGPYYC
  • HTNFSTK
  • PWFGMEQEY
  • GTDGHPFGWPS
  • FDPKPIPG

Post-translational modifications for GLUL Gene

  • Ubiquitinated by ZNRF1.
  • Ubiquitination at posLast=1414, posLast=2525, posLast=9191, posLast=9595, posLast=103103, isoforms=259, isoforms=268, posLast=276276, posLast=291291, isoforms=334, and isoforms=372
  • Modification sites at PhosphoSitePlus

Other Protein References for GLUL Gene

Domains & Families for GLUL Gene

Gene Families for GLUL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for GLUL Gene

Gene Ontology (GO) - Molecular Function for GLUL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004351 glutamate decarboxylase activity IEA --
GO:0004356 glutamate-ammonia ligase activity EXP 18005987
GO:0005515 protein binding IPI 21994455
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

CRISPR Products

miRNA for GLUL Gene

miRTarBase miRNAs that target GLUL

Inhibitory RNA Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLUL gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLUL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
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:0006538 glutamate catabolic process TAS 21757002
GO:0006542 glutamine biosynthetic process TAS 21757002
GO:0006807 nitrogen compound metabolic process IEA --
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

(58) 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 128
Diazoxide Approved Pharma Activator, Enzyme, inhibitor 22
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Target, product of 0
Capsaicin Approved Pharma Potentiation, Activator, Enzyme, inducer TRPV1 receptor agonist 188

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

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
L-Methionine
  • (2S)-2-amino-4-(methylsulfanyl)butanoate
  • (2S)-2-amino-4-(methylsulfanyl)butanoic acid
  • (L)-methionine
  • (S)-(+)-methionine
  • (S)-2-amino-4-(methylthio)-Butanoate
63-68-3
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GLUL Gene



Protein tissue co-expression partners for GLUL Gene

NURSA nuclear receptor signaling pathways regulating expression of GLUL Gene:

GLUL

SOURCE GeneReport for Unigene cluster for GLUL Gene:

Hs.518525

Evidence on tissue expression from TISSUES for GLUL Gene

  • Eye(5)
  • Nervous system(5)
  • Liver(4.8)
  • Intestine(4.6)
  • Muscle(4.6)
  • Lung(4.3)
  • Blood(3.9)
  • Spleen(2.8)
  • Stomach(2.8)
  • Heart(2.7)
  • Kidney(2.7)
  • Thyroid gland(2.6)
  • Bone marrow(2.5)
  • Gall bladder(2.3)
  • Pancreas(2.3)
  • Adrenal gland(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLUL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • face
  • head
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with GLUL: view

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
chimpanzee
(Pan troglodytes)
Mammalia GLUL 34 33
  • 99.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLUL 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLUL 34 33
  • 90.8 (n)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GLUL 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLUL 34 33
  • 89.54 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glul 33 16 34
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Glul 33
  • 86.86 (n)
chicken
(Gallus gallus)
Aves GLUL 34 33
  • 78.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLUL 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glul 33
  • 75.07 (n)
LOC394904 33
African clawed frog
(Xenopus laevis)
Amphibia glul-prov 33
zebrafish
(Danio rerio)
Actinopterygii glula 34
  • 85 (a)
OneToMany
glulb 33 34
  • 75.92 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11265 33
fruit fly
(Drosophila melanogaster)
Insecta Gs1 35 33 34
  • 60.77 (n)
Gs2 35 34
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008988 33
  • 58.24 (n)
worm
(Caenorhabditis elegans)
Secernentea Y105C5B.28 35
  • 64 (a)
F26D10.10 35
  • 60 (a)
gln-1 33 34
  • 59.13 (n)
qrs-1 35
  • 59 (a)
gln-3 34
  • 59 (a)
OneToMany
qrs-2 35
  • 58 (a)
C28D4.3 35
  • 57 (a)
gln-5 34
  • 57 (a)
OneToMany
gln-2 34
  • 55 (a)
OneToMany
gln-6 34
  • 55 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR182C 33
  • 58.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLN1 33 34 36
  • 57.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06293g 33
  • 56.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GSR2 33
  • 56.76 (n)
soybean
(Glycine max)
eudicotyledons Gma.3518 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1208 33
rice
(Oryza sativa)
Liliopsida Os03g0223400 33
  • 59.06 (n)
Os.7879 33
barley
(Hordeum vulgare)
Liliopsida Hv.331 33
wheat
(Triticum aestivum)
Liliopsida Ta.24508 33
corn
(Zea mays)
Liliopsida Zm.45 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.392 34
  • 67 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06724 33
  • 60.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gln1 33
  • 58.31 (n)
Species where no ortholog for GLUL was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000023803 uncertain-significance, Glutamine deficiency, congenital 182,382,713(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1017985229 uncertain-significance, Glutamine deficiency, congenital 182,382,092(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1039977816 uncertain-significance, Glutamine deficiency, congenital 182,382,473(-) A/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs10458354 benign, Glutamine deficiency, congenital 182,382,287(-) A/C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1055158749 uncertain-significance, Glutamine deficiency, congenital 182,381,801(-) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv658n54 CNV gain 21841781
dgv659n54 CNV gain 21841781
esv22717 CNV loss 19812545
nsv548358 CNV gain 21841781
nsv946532 CNV duplication 23825009
nsv946533 CNV duplication 23825009

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)

Additional Variant Information for GLUL Gene

Human Gene Mutation Database (HGMD)
GLUL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLUL

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLUL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glutamine deficiency, congenital
  • glutamine synthase deficiency, congenital systemic
hepatocellular adenoma
hepatic encephalopathy
  • portal-systemic encephalopathy
glutathione synthetase deficiency
  • gssd
pneumococcal meningitis
  • meningitis, pneumococcal
- 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.

Additional Disease Information for GLUL

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

No data available for Genatlas for GLUL Gene

Publications for GLUL Gene

  1. Wnt and steroid pathways control glutamate signalling by regulating glutamine synthetase activity in osteoblastic cells. (PMID: 18555765) Olkku A … Mahonen A (Bone 2008) 3 4 22 58
  2. Glutamine synthetase is essential for proliferation of fetal skin fibroblasts. (PMID: 18662667) Vermeulen T … Häberle J (Archives of biochemistry and biophysics 2008) 3 4 22 58
  3. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B … Shen Y (European psychiatry : the journal of the Association of European Psychiatrists 2005) 3 22 44 58
  4. Glutamine synthetase isolated from human brain: octameric structure and homology of partial primary structure with human liver glutamine synthetase. (PMID: 12387715) Boksha IS … Burbaeva GSh (Biochemistry. Biokhimiia 2002) 3 4 22 58
  5. Overexpression of glutamine synthetase in human primary liver cancer. (PMID: 7909780) Christa L … Lasserre C (Gastroenterology 1994) 3 4 22 58

Products for GLUL Gene

Sources for GLUL Gene