Human Gene G6PD (uc004flx.1)
  Description: Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA.
RefSeq Summary (NM_000402): This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chrX:153,759,606-153,775,233 Size: 15,628 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chrX:153,760,215-153,775,085 Size: 14,871 Coding Exon Count: 13 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,759,606-153,775,233)mRNA (may differ from genome)Protein (545 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeTreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): G6PD
CDC HuGE Published Literature: G6PD
Positive Disease Associations: Bilirubin levels , chronic non-spherocytic haemolytic anaemia. , G6PD deficiency , haemoglobinopathies , haemolytic anaemia , malaria , undetectable glucose-6-phosphate dehydrogenase enzyme activity
Related Studies:
  1. Bilirubin levels
    Sanna ,et al. 2009, Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia, Human molecular genetics 2009 18- 14 : 2711-8. [PubMed 19419973]
  2. chronic non-spherocytic haemolytic anaemia.
    Filosa S et al. 1994, A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia., Human genetics. 1994 Nov;94(5):560-2. [PubMed 7959695]
  3. G6PD deficiency
    Warsy, A. S. et al. 2001, G6PD deficiency, distribution and variants in Saudi Arabia, Ann Saudi Med 2001 21(3-4) 174-7. [PubMed 17264545]
    This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PDA-Mediterranean is the major variant producing the severe deficiency state in this population.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: G6PD
Diseases sorted by gene-association score: hemolytic anemia due to g6pd deficiency* (1593), favism* (971), glucosephosphate dehydrogenase deficiency* (553), g6pd-related altered drug metabolism* (525), malaria* (199), neonatal jaundice (40), congenital hemolytic anemia (36), blackwater fever (28), plasmodium vivax malaria (22), hemolytic anemia (21), kernicterus (21), pyruvate kinase deficiency (19), 6-phosphogluconate dehydrogenase deficiency (18), acquired methemoglobinemia (17), methemoglobinemia (14), blood group incompatibility (13), glucosephosphate isomerase deficiency (13), meningococcal infection (13), senile cataract (12), gilbert syndrome (12), color blindness (12), back pain (11), congenital nonspherocytic hemolytic anemia (10), sickle cell disease (10), congenital methemoglobinemia (9), glutathione synthetase deficiency (9), deficiency anemia (8), koro (8), plasmodium falciparum malaria (7), histiocytosis-lymphadenopathy plus syndrome (7), phenylketonuria (7), acne (7), parotitis (7), bilirubin metabolic disorder (6), lymphosarcoma (6), galactosemia (6), microcytic anemia (6), thalassemias, alpha- (6), hyperphenylalaninemia (5), ischemic optic neuropathy (5), thalassemia, hispanic gamma-delta-beta (4), chronic granulomatous disease (2), hereditary spherocytosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 64.48 RPKM in Testis
Total median expression: 948.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.10148-0.548 Picture PostScript Text
3' UTR -233.72609-0.384 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00479 - Glucose-6-phosphate dehydrogenase, NAD binding domain
PF02781 - Glucose-6-phosphate dehydrogenase, C-terminal domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
55347 - Glyceraldehyde-3-phosphate dehydrogenase-like, C-terminal domain

ModBase Predicted Comparative 3D Structure on P11413-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  BC000337 - Homo sapiens glucose-6-phosphate dehydrogenase, mRNA (cDNA clone MGC:8534 IMAGE:2822640), complete cds.
GQ891491 - Homo sapiens clone HEL-S-212 epididymis secretory sperm binding protein mRNA, complete cds.
X03674 - Human mRNA for glucose-6-phosphate dehydrogenase (G6PD).
M21248 - Human glucose-6-phosphate dehydrogenase variant A-, complete cds.
JD054847 - Sequence 35871 from Patent EP1572962.
M12996 - Human glucose-6-phosphate dehydrogenase (G6PD) mRNA, 3' end.
JD370576 - Sequence 351600 from Patent EP1572962.
LF380913 - JP 2014500723-A/188416: Polycomb-Associated Non-Coding RNAs.
JD189423 - Sequence 170447 from Patent EP1572962.
AK302341 - Homo sapiens cDNA FLJ56794 complete cds, highly similar to Glucose-6-phosphate 1-dehydrogenase (EC 1.1.1.49).
LF380914 - JP 2014500723-A/188417: Polycomb-Associated Non-Coding RNAs.
JD541782 - Sequence 522806 from Patent EP1572962.
AK292304 - Homo sapiens cDNA FLJ75439 complete cds, highly similar to Homo sapiens glucose-6-phosphate dehydrogenase, mRNA.
JD481663 - Sequence 462687 from Patent EP1572962.
JD544049 - Sequence 525073 from Patent EP1572962.
LF380915 - JP 2014500723-A/188418: Polycomb-Associated Non-Coding RNAs.
JD461481 - Sequence 442505 from Patent EP1572962.
JD517093 - Sequence 498117 from Patent EP1572962.
JD247336 - Sequence 228360 from Patent EP1572962.
JD398412 - Sequence 379436 from Patent EP1572962.
JD246463 - Sequence 227487 from Patent EP1572962.
JD116781 - Sequence 97805 from Patent EP1572962.
JD134118 - Sequence 115142 from Patent EP1572962.
JD442917 - Sequence 423941 from Patent EP1572962.
JD457005 - Sequence 438029 from Patent EP1572962.
JD424034 - Sequence 405058 from Patent EP1572962.
JD526756 - Sequence 507780 from Patent EP1572962.
JD091765 - Sequence 72789 from Patent EP1572962.
JD128961 - Sequence 109985 from Patent EP1572962.
LF380917 - JP 2014500723-A/188420: Polycomb-Associated Non-Coding RNAs.
JD320714 - Sequence 301738 from Patent EP1572962.
JD123146 - Sequence 104170 from Patent EP1572962.
KJ896841 - Synthetic construct Homo sapiens clone ccsbBroadEn_06235 G6PD gene, encodes complete protein.
DQ892219 - Synthetic construct clone IMAGE:100004849; FLH184182.01X; RZPDo839D01144D glucose-6-phosphate dehydrogenase (G6PD) gene, encodes complete protein.
DQ895415 - Synthetic construct Homo sapiens clone IMAGE:100009875; FLH184178.01L; RZPDo839D01143D glucose-6-phosphate dehydrogenase (G6PD) gene, encodes complete protein.
LF380919 - JP 2014500723-A/188422: Polycomb-Associated Non-Coding RNAs.
LF380921 - JP 2014500723-A/188424: Polycomb-Associated Non-Coding RNAs.
LF380922 - JP 2014500723-A/188425: Polycomb-Associated Non-Coding RNAs.
CU674164 - Synthetic construct Homo sapiens gateway clone IMAGE:100017683 5' read G6PD mRNA.
LF380923 - JP 2014500723-A/188426: Polycomb-Associated Non-Coding RNAs.
LF380924 - JP 2014500723-A/188427: Polycomb-Associated Non-Coding RNAs.
S58359 - glucose-6-phosphate dehydrogenase {5' region, clone pG6PD545} [human, reticulocytes, mRNA Partial, 366 nt].
M27940 - Human glucose-6-phosphate dehydrogenase (G6PD) mRNA, 5' end.
LF380930 - JP 2014500723-A/188433: Polycomb-Associated Non-Coding RNAs.
JD218277 - Sequence 199301 from Patent EP1572962.
MA616490 - JP 2018138019-A/188416: Polycomb-Associated Non-Coding RNAs.
MA616491 - JP 2018138019-A/188417: Polycomb-Associated Non-Coding RNAs.
MA616492 - JP 2018138019-A/188418: Polycomb-Associated Non-Coding RNAs.
MA616494 - JP 2018138019-A/188420: Polycomb-Associated Non-Coding RNAs.
MA616496 - JP 2018138019-A/188422: Polycomb-Associated Non-Coding RNAs.
MA616498 - JP 2018138019-A/188424: Polycomb-Associated Non-Coding RNAs.
MA616499 - JP 2018138019-A/188425: Polycomb-Associated Non-Coding RNAs.
MA616500 - JP 2018138019-A/188426: Polycomb-Associated Non-Coding RNAs.
MA616501 - JP 2018138019-A/188427: Polycomb-Associated Non-Coding RNAs.
MA616507 - JP 2018138019-A/188433: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00030 - Pentose phosphate pathway
hsa00480 - Glutathione metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P11413 (Reactome details) participates in the following event(s):

R-HSA-70377 alpha-D-glucose 6-phosphate + NADP+ => D-glucono-1,5-lactone 6-phosphate + NADPH + H+
R-HSA-71336 Pentose phosphate pathway (hexose monophosphate shunt)
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-71387 Metabolism of carbohydrates
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1430728 Metabolism
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_000402, NP_001035810, P11413-3
UCSC ID: uc004flx.1
RefSeq Accession: NM_000402
Protein: P11413-3, splice isoform of P11413 CCDS: CCDS14756.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000402.3
exon count: 13CDS single in 3' UTR: no RNA size: 2395
ORF size: 1638CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3349.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.