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FLASH GENE
Symbol G6PD contributors: - updated : 06-11-2006
HGNC name glucose-6-phosphate dehydrogenase
HGNC id 4057
Corresponding disease
G6PDD G6PD deficiency
Location Xq28      Physical location : 153.759.605 - 153.775.787
Synonym symbol(s) G6PD1
EC.number 1.1.1.49
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, gene in gene, opposite orientation
text sharing exon 1 with IKBKG
STRUCTURE 15.00 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
motif repetitive sequence   ALU
text structure most in introns 2 and 3
MAPPING cloned Y linked Y status confirmed
Map see F8
Physical map
CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3 DXS9879E Xq28 DNA segment on chromosome X (unique) 9879 expressed sequence UBL4 Xq28 ubiquitin-like 4 SLC10A3 Xq28 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma SPCX Xq28 SPCX LAGE2A  cancer/testis antigen 1-A CTAG1 Xq28 cancer/testis antigen 1 LOC340600 Xq28 cyclic-AMP-dependent transcription factor ATF-4 pseudogene deltaNEMO Xq28 deltaNEMO CTAG2 Xq28 cancer/testis antigen 2 LOC392561 X similar to olfactory receptor MOR255-2 GAB3 Xq28 GRB2-associated binding protein 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 2395 62.3 545 - Kanno
  • being inactive, but may be processed to the smaller (515 aa) active form
  • - splicing 2270 59.1 515 - Kanno
  • differing in the 5' UTR and CDS compared to variant 1
  • being the active form
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Lymphoid/Immunelymph node   moderately
     tonsils   highly
    Nervousnervecranial nerve  moderately
    Reproductivefemale systembreastmammary gland moderately
     male systemprostate  moderately
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  predominantly
    cell lineage
    cell lines
    fluid/secretion highly in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    coding region divided into twelve segments
    conjugated PhosphoP , Other
    mono polymer homomer , dimer , tetramer
    HOMOLOGY
    interspecies homolog to rattus G6pdx (93.6 pc)
    homolog to murine G6pdx (93.6 pc)
    Homologene
    FAMILY glucose-6-phosphate dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • first step of pentose phosphate, pathway mainly involved in the defense against oxidizing agents through NADPH production
  • producing pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • carbohydrate degradation
  • pentose phosphate pathway
  • a component
  • acetylation
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • NADP
  • protein
    cell & other
    REGULATION
    Other variants MED and A (3% activity and 12%),confer malarial resistance (to plasmodium)
    ASSOCIATED DISORDERS
    corresponding disease(s) G6PDD
    related resource Favismresearchpapers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS