ENSG00000160211


Homo sapiens

Features
Gene ID: ENSG00000160211
  
Biological name :G6PD
  
Synonyms : G6PD / glucose-6-phosphate dehydrogenase / P11413
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q28
Gene start: 154531391
Gene end: 154547572
  
Corresponding Affymetrix probe sets: 202275_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377194
Ensembl peptide - ENSP00000483686
Ensembl peptide - ENSP00000400648
Ensembl peptide - ENSP00000395599
Ensembl peptide - ENSP00000394690
Ensembl peptide - ENSP00000358633
Ensembl peptide - ENSP00000377192
NCBI entrez gene - 2539     See in Manteia.
OMIM - 305900
RefSeq - NM_001042351
RefSeq - NM_000402
RefSeq Peptide - NP_000393
RefSeq Peptide - NP_001035810
swissprot - P11413
swissprot - E7EUI8
swissprot - E7EM57
swissprot - E9PD92
Ensembl - ENSG00000160211
  
Related genetic diseases (OMIM): 300908 - Hemolytic anemia, G6PD deficient (favism), 300908
  611162 - {Resistance to malaria due to G6PD deficiency}, 611162
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 g6pdENSDARG00000071065Danio rerio
 G6pd2ENSMUSG00000089992Mus musculus
 G6pdxENSMUSG00000031400Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
H6PD / O95479 / hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenaseENSG0000004923928


Protein motifs (from Interpro)
Interpro ID Name
 IPR001282  Glucose-6-phosphate dehydrogenase
 IPR019796  Glucose-6-phosphate dehydrogenase, active site
 IPR022674  Glucose-6-phosphate dehydrogenase, NAD-binding
 IPR022675  Glucose-6-phosphate dehydrogenase, C-terminal
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0006098 pentose-phosphate shunt IDA
 biological_processGO:0006629 lipid metabolic process TAS
 biological_processGO:0006695 cholesterol biosynthetic process IMP
 biological_processGO:0006739 NADP metabolic process IDA
 biological_processGO:0006740 NADPH regeneration IMP
 biological_processGO:0006749 glutathione metabolic process IMP
 biological_processGO:0009051 pentose-phosphate shunt, oxidative branch IMP
 biological_processGO:0010041 response to iron(III) ion IEA
 biological_processGO:0010734 negative regulation of protein glutathionylation IMP
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0019322 pentose biosynthetic process IDA
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0032094 response to food IEA
 biological_processGO:0034599 cellular response to oxidative stress IMP
 biological_processGO:0043249 erythrocyte maturation IMP
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0046390 ribose phosphate biosynthetic process IMP
 biological_processGO:0051156 glucose 6-phosphate metabolic process IMP
 biological_processGO:0055114 oxidation-reduction process IMP
 biological_processGO:0061052 negative regulation of cell growth involved in cardiac muscle cell development IEA
 biological_processGO:1904879 positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004345 glucose-6-phosphate dehydrogenase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005536 glucose binding IMP
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0050661 NADP binding IDA


Pathways (from Reactome)
Pathway description
TP53 Regulates Metabolic Genes
Pentose phosphate pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001923 Reticulocytosis 
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 HP:0004814 hemolytic anemia following ingestion of fava beans 
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 HP:0006579 Prolonged neonatal jaundice 
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 HP:0008282 Unconjugated hyperbilirubinemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000160211 G6PD / P11413 / glucose-6-phosphate dehydrogenase  / complex






 

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