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FLASH GENE
Symbol GLUL contributors: mct - updated : 09-12-2013
HGNC name glutamate-ammonia ligase (glutamine synthetase)
HGNC id 4341
Corresponding disease
GLUL glutamate ammonia ligase deficiency
Location 1q25.3      Physical location : 182.350.839 - 182.361.341
Synonym name
  • glutamate-ammonia ligase (glutamine synthase)
  • glutamine synthetase
  • glutamate decarboxylase
  • proliferation-inducing protein 43
  • cell proliferation-inducing protein 59
  • Synonym symbol(s) GS, GLNS, GLNA, PIG43, PIG59
    EC.number 6.3.1.2/ 4.1.1.15
    DNA
    TYPE functioning gene
    STRUCTURE 10.50 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D1S117 - GLUL GLUL /D1S2414 - D1S466 - qter
    Authors Clancy (96)
    Physical map
    XPR1 1q25 xenotropic and polytropic retrovirus receptor KIAA1614 1q25.1 KIAA1614 protein LOC391142 1 hypothetical gene supported by AJ249778; NM_001531 STX6 1p36 syntaxin 6 MR1 1q25.3 major histocompatibility complex, class I-related IER5 1q25.1 immediate early response 5 LOC284646 1q25.1 hypothetical gene supported by BC039493 CACNA1E 1q25-q31 calcium channel, voltage-dependent, alpha 1E subunit LOC127665 1q25.2 similar to zinc finger protein 135 (clone pHZ-17); zinc finger protein 61 LOC388718 1 similar to Protein translation factor SUI1 homolog (Sui1iso1) GLUL 1q31 glutamate-ammonia ligase (glutamine synthase) HE9 1q25.2 putative membrane protein HE9 LOC388719 1 hypothetical gene supported by AF508909 LOC127671 1q25.2 similar to CE9 protein RGSL2 1q25.2 regulator of G-protein signalling like 2 RGSL1  regulator of G-protein signalling like 1 RNASEL 1q25 ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RGS16 1q25-q31 regulator of G-protein signalling 16 RGS8 1q25-q31 regulator of G-protein signalling 8 NPL 1q25 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) DHX9 1q25 DEAH (Asp-Glu-Ala-His) box polypeptide 9 C1orf14 1q25-q31 chromosome 1 open reading frame 14 LOC391143 1 similar to natural cytotoxicity triggering receptor 1; lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46); lymphocyte antigen 94 (mouse) homolog (activating NK-receptor ; NK-p46); lymphocyte antigen 94 homolog, a LOC343326 1q25.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LAMC1 1q31 laminin, gamma 1 (formerly LAMB2) LAMC2 1q25-q31 laminin, gamma 2 NMNAT2 1q25-q31 nicotinamide nucleotide adenylyltransferase 2 C1orf16 1q25-q31 chromosome 1 open reading frame 16 NCF2 1q25 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ARPC5 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa RGL 1q25.2 actin related protein 2/3 complex, subunit 5, 16kDa C1orf17 1q25-q31 chromosome 1 open reading frame 17
    RNA
    TRANSCRIPTS type messenger
    text
  • tree transcripts encoding for the same product
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4737 42.1 373 - 2012 22777743
  • lacking exon 2
  • 7 - 4381 42.1 373 - 2012 22777743
  • lacking exons 2 & 3
  • 7 - 4083 42.1 373 - 2012 22777743
  • lacking exons 1 & 3
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Digestiveliver   highly Homo sapiens
     pharynx   highly
    Nervousbrain   highly
     nerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , octamer
    HOMOLOGY
    interspecies homolog to murine Glul (94.64 pc)
    homolog to rattus Glul (92.49 pc)
    Homologene
    FAMILY glutamine synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    basic FUNCTION
  • catalyzing the condensation of glutamate and ammonia to form glutamine
  • involved in ammonia detoxification and interorgan nitrogen flux
  • strategic enzyme in controlling glutamate concentration in bone environment, decreasing the amount of this signalling molecule while vitamin D and WNT signalling pathway increased it
  • can be found during early human fetal stages when it displays a significant effect on cell proliferation
  • its down-regulation may have an important pro-epileptogenic role in glioblastoma multiforme, through the slowing of glutamate-glutamine cycle
  • catalyzes the de novo synthesis of glutamine, an amino acid that has been shown to influence sperm motility
  • its presence in the post-acrosomal region of the perinuclear theca suggests that human sperm can carry out in glutamine synthesis
  • contributes to pancreatic regeneration
  • its expression is increased in regenerating hepatocytes and in early hepatocyte progenitor cells (HPCs) prior to morphological evidence of hepatocellular differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other reversible inhibition of GLUL by tyrosine nitration
    ASSOCIATED DISORDERS
    corresponding disease(s) GLUL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in primary liver cancer
    tumoral     --over  
    in chronic hepatitis, focal nodular hyperplasia, peritumoural hyperplasia and some hepatocellular neoplasms
    constitutional     --low  
    in cirrhosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 1 
    can serve as novel targets in diabetes mellitus genetic therapy
    cancerbrainglioma/neuroblstoma
    manipulation of GLUL activity might constitute a novel principle for inhibiting seizures in patients with glioma epilepsy
    ANIMAL & CELL MODELS