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FLASH GENE
Symbol H6PD contributors: mct/pgu - updated : 22-09-2010
HGNC name hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HGNC id 4795
Corresponding disease
CRD2 cortisone reductase deficiency 2
Location 1p36.22      Physical location : 9.294.862 - 9.331.392
Synonym name
  • glucose dehydrogenase
  • GDH/6PGL endoplasmic bifunctional protein
  • G6PD, H form
  • Synonym symbol(s) GDH, G6PE, G6PDH, DKFZp686A01246, MGC87643
    EC.number 1.1.1.47
    DNA
    TYPE functioning gene
    STRUCTURE 36.53 kb     5 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    VAMP3 1pter-p36.32 vesicle-associated membrane protein 3 (cellubrevin) PER3 1p36 period homolog 3 (Drosophila) UTS2 1p36 urotensin 2 TNFRSF9 1p36 tumor necrosis factor receptor superfamily, member 9 PARK7 1p36.33-p36.12 Parkinson disease (autosomal recessive, early onset) 7 MIG-6 1p36.12-36.33 mitogen-inducible gene 6 LOC390993 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) DNB5 1p36.2-p36.1 deleted in neuroblastoma 5 RERE 1p36.1-p36.2 arginine-glutamic acid dipeptide (RE) repeats DKFZp566H0824 1p36.22 hypothetical protein DKFZp566H0824 LOC390994 1 similar to 60S ribosomal protein L23a ENO1 1p36.2 enolase 1, (alpha) LOC148915 1p36.22 hypothetical LOC148915 CA6 1p36.2 carbonic anhydrase VI LOC390995 1 similar to Solute carrier family 2, facilitated glucose transporter, member 5 (Glucose transporter type 5, small intestine) (Fructose transporter) SLC2A5 1p36.2 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GPR157 1p36.22 G protein-coupled receptor 157 H6PD 1p36.3 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) SSB1 1p36.22 SPRY domain-containing SOCS box protein SSB-1 MGC4399 1p36.22 mitochondrial carrier protein LOC199953 1p36.22 similar to expressed sequence AV028368 PIK3CD 1p36.2 phosphoinositide-3-kinase, catalytic, delta polypeptide CLSTN1 1p36.22 calsyntenin 1 CTNNBIP1 1pter-p36.31 catenin, beta interacting protein 1 LZIC 1p36.22 leucine zipper and CTNNBIP1 domain containing NMNAT1 1p36.2 nicotinamide nucleotide adenylyltransferase 1 CRBPIV 1p36.22 retinoid binding protein 7 UBE4B 1p36.3- ubiquitination factor E4B (UFD2 homolog, yeast) KIF1B 1p36.2 kinesin family member 1B LOC388593 1 LOC388593 PGD 1p36.31 phosphogluconate dehydrogenase CORT 1p36.3-p36.2 cortistatin DFFA 1p36.3-p36.2 DNA fragmentation factor, 45kDa, alpha polypeptide PEX14 1p36.3-p36.2 peroxisomal biogenesis factor 14 LOC163301 1p36.22 similar to BC035954 protein FLJ20321 1p36.22 hypothetical protein FLJ20321 FLJ37118 1p36.22 hypothetical protein FLJ37118 LOC390996 1 similar to Cofilin, non-muscle isoform TARDBP 1p36.22 TAR DNA binding protein AF311304 1p36.22 hypothetical protein AF311304 MASP2 1p36.3-p36.2 mannan-binding lectin serine protease 2 SRM 1p36-p22 spermidine synthase PMSCL2 1p36.22 polymyositis/scleroderma autoantigen 2, 100kDa
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 9117 88.9 791 - PMID: 10349511
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     mouthtongue  highly
     salivary gland   highly
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebonesubchondral  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • glucose-6- phosphate dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text located along with HSD11B1 in the lumen of the endoplasmic reticulum (ER)
    basic FUNCTION
  • oxidizing glucose-6-phosphate and glucose, as well as other hexose-6-phosphates
  • plays a role in maintaining normal NADPH levels and redox environment inside the endoplasmic reticulum
  • luminal enzyme of the endoplasmic reticulum that converts glucose-6-phosphate and NADP(+) to 6-phosphogluconate and NADPH, thereby catalyzing the first two reactions of the pentose-phosphate pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    pentose phosphate pathway inside the endoplasmic reticulum (ER) that generates NADPH for ER enzymes
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • NAD or NADP
  • protein
  • HSD11B1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    with HSD11B1 in cortisone reductase deficiency
    Susceptibility to multiple sclerosis (MS)
    Variant & Polymorphism other rs17368528 polymorphism associated with MS
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • H6PD null mice suffer a progressive skeletal myopathy
  • H6PD null mice indeed show signs of glucocorticoid deficiency, but also suffer from a skeletal myopathy mainly affecting fast twitch muscles, in which the unfolded protein response (UPR) is activated