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FLASH GENE
Symbol GLS contributors: mct - updated : 09-07-2015
HGNC name glutaminase
HGNC id 4331
Corresponding disease
CASGID infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
EIEE71 epileptic encephalopathy, early infantile, 71
Location 2q32.2      Physical location : 191.745.546 - 191.829.776
Synonym name
  • glutaminase C,K type
  • phosphate-dependent,ammonia formation
  • glutaminase kidney-type isoforms
  • Synonym symbol(s) KIAA0838, GLSK, KGA, AAD20, GAC, GAM1, GLS1
    EC.number 3.5.1.2
    DNA
    TYPE functioning gene
    STRUCTURE 84.73 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 splicing 4850 - 669 expressed predominantly in brain and kidney but not in liver 1999 11015561
    KGA
    - splicing - - - is expressed solely in cardiac and skeletal muscle 1999 11015561
    15 splicing 4509 - 598 is expressed principally in cardiac muscle and pancreas but not in liver or brain 1999 11015561
  • GAC
  • contains an open reading frame that matches KGA except for a unique COOH-terminal amino acid sequence
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Urinarykidney     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one ankyrin repeat domain
  • two domains with the active site located at the interface
  • secondary structure
  • domain I comprises (Ile221-Pro281 and Cys424 -Leu533) of a five-stranded anti-parallel beta-sheet surrounded by six alpha-helices and several loops
  • domain II (Phe282-Thr423) mainly consists of seven alpha-helices
  • HOMOLOGY
    interspecies homolog to murine Gls
    Homologene
    FAMILY glutaminase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the first reaction in the primary pathway for the renal catabolism of glutamine
  • activity of GLS is directly regulated by RAF-MEK-ERK downstream of EGF receptor
  • neuronal glutaminase is a potential component of neurotoxicity during inflammation and modulation of glutaminase may provide therapeutic avenues for neurodegenerative diseases
  • metabolic enzyme responsible for glutaminolysis, a process harnessed by cancer cells to feed their accelerated growth and proliferation
  • mitochondrial enzyme that converts glutamine to glutamate
  • kidney-type isoform is associated with cell proliferation
  • GLS, NCALD and INSR are involved in nutrient signaling pathways and energy homeostasis suggesting a role in celiac disease pathogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • through binding to GLS, ATCAY could regulate glutamate synthesis at synapses during neurotransmission
  • its activity in cells is stimulated by EGF, and GLS associates with all three kinase components of the RAF1/MEK2/ERK signaling module
  • cell & other
    REGULATION
    activated by MYC and RHO and is subjected to ubiquitination
    Other regulated by oncogene MYC
    is regulated by phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE71 , CASGID
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    GLS silencing reduced proliferation of glioblastoma T98G cells and strengthen the antiproliferative effect evoked by previous GLS2 overexpression
    tumoral     --over  
    in colorectal cancer
    tumoral     --low  
    kills cells that overexpress MYC and catabolize glutamine
    tumoral     --over  
    in hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker GLS expression is a sensitive and specific biomarker for pathological diagnosis and prognosis of hepatocellular carcinoma
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    may serve as a target for colorectal cancer therapy
    ANIMAL & CELL MODELS