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FLASH GENE
Symbol G6PC contributors: mct/npt/pgu - updated : 01-04-2009
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
EC.number 3.1.3.9
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 12.57 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
NAGLU 17q21.1 N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) HSD17BP1 17q11-q21 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 HSD17B1 17q21.1 hydroxysteroid (17-beta) dehydrogenase 1 DPCK 17q12-q21 bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase TCFL4 17q21.1 transcription factor-like 4 HUMGT198A 17q12-q21 GT198, complete ORF LOC162427 17q21.31 hypothetical protein LOC162427 TUBG1 17q21 tubulin, gamma 1 LOC342578 17q21.31 similar to high mobility group protein homolog HMG4 TUBG2 17q21 tubulin, gamma 2 FLJ21019 17q21.31 hypothetical protein FLJ21019 GPR2 17q21.1 G protein-coupled receptor 2 CNTNAP1 17q21 contactin associated protein 1 EZH1 17q21 enhancer of zeste homolog 1 (Drosophila) RAMP2 17q12-q21.1 receptor (calcitonin) activity modifying protein 2 MGC10540 17q21.31 hypothetical protein MGC10540 PRKWNK4 17q12 protein kinase, lysine deficient 4 HSPC009 17q21 HSPC009 protein FLJ40137 17q21.31 hypothetical protein FLJ40137 BECN1 17q21 beclin 1 (coiled-coil, myosin-like BCL2 interacting protein) PSME3 17q21 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) AOC2 17q21 amine oxidase, copper containing 2 (retina-specific) AOC3 17q21 amine oxidase, copper containing 3 (vascular adhesion protein 1) LOC90586 17q21.31 amine oxidase pseudogene LOC388387 17 hypothetical gene supported by AK055784 G6PC 17q21 glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease) MGC2744 17q21.31 hypothetical protein MGC2744 DKFZp761H0421 17q21.31 hypothetical protein DKFZp761H0421 RPL27 17q21 ribosomal protein L27 IFI35 17q21 interferon-induced protein 35 VAT1 17q21 vesicle amine transport protein 1 homolog (T californica) ARHN 17q21 ras homolog gene family, member N BRCA1 17q21 breast cancer 1, early onset RPL21P4 17q21 ribosomal protein L21 pseudogene 4 NBR2 17q21 neighbor of BRCA1 gene 2 LOC387620 17 membrane component, chromosome 17, surface marker 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3096 40.4 357 - 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     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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD1A
    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
    ANIMAL & CELL MODELS