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FLASH GENE
Symbol GLUL contributors: mct - updated : 09-12-2013
HGNC name glutamate-ammonia ligase (glutamine synthetase)
HGNC id 4341
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)
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