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FLASH GENE
Symbol G6PC contributors: mct/npt/pgu - updated : 03-06-2020
HGNC name glucose-6-phosphatase, catalytic subunit
HGNC id 4056
Corresponding disease
GSD1A glycogen storage disease, type Ia
Location 17q21.31      Physical location : 41.052.814 - 41.065.386
Synonym name glucose-6-phosphatase alpha
Synonym symbol(s) G6PT, G6PC1, G-6-Pase, MGC163350, GSD1, GSD1a, G6Pase
EC.number 3.1.3.9
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 13.64 kb     5 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
5 - 4164 40.4 357 - 2009 18847435
5 - 4087 - 176 - 2009 18847435
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • glucose-6-phosphatase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyses the final step in the gluconeogenic and glycogenolytic pathways, the hydrolysis of glucose-6-phosphate to glucose
  • involved in catalytic gluconeogenesis, energy pathway
  • may be a single membrane channel protein acting both as a hydrolase and a translocase
  • key enzyme in homeostatic regulation of blood glucose levels
  • possible role for PCK2 and G6PC in the DNA damage response
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • overexpression of ESRRG induced PCK1 and G6PC gene expression and glucose production in primary hepatocytes
  • thyroid hormone (TH), a regulator of hepatic gluconeogenesis acts through its nuclear receptor (THRA, THRB) to induce the expression of PCK1 and G6PC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD1A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    silencing in ovarian cancer cells induced decreased cell proliferation, viability, invasiveness and anchorage-independent cell growth
    tumoral     --low  
    promoter methylation level of G6PC was significantly higher in Clear cell renal cell carcinoma (ccRCC) samples with aggressive progression status
    Susceptibility sudden and unexpected death
    Variant & Polymorphism other promoter polymorphism, which lowers expression, potentially increasing risk of hypoglycaemia and hence risk of sudden and unexpected death
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    promising therapeutic target in ovarian cancer
    ANIMAL & CELL MODELS
  • upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia