• Gene id: 5226

Gene Summary

• Gene Symbol: PGD   Gene   UCSC   Ensembl
• Aliases: 6PGD
• Gene name: phosphogluconate dehydrogenase
• Alternate names: 6-phosphogluconate dehydrogenase, decarboxylating,
• Gene location: 1p36.22 (10399063: 10420510)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-p
• OMIM: 172200

Protein Summary

• Protein general information: P52209  
  • Name: 6 phosphogluconate dehydrogenase, decarboxylating (EC 1.1.1.44)
  • Length: 483  
  • Mass: 53140
• Sequence:

  MAQADIALIGLAVMGQNLILNMNDHGFVVCAFNRTVSKVDDFLANEAKGTKVVGAQSLKEMVSKLKKPRRIILLV
  KAGQAVDDFIEKLVPLLDTGDIIIDGGNSEYRDTTRRCRDLKAKGILFVGSGVSGGEEGARYGPSLMPGGNKEAW
  PHIKTIFQGIAAKVGTGEPCCDWVGDEGAGHFVKMVHNGIEYGDMQLICEAYHLMKDVLGMAQDEMAQAFEDWNK
  TELDSFLIEITANILKFQDTDGKHLLPKIRDSAGQKGTGKWTAISALEYGVPVTLIGEAVFARCLSSLKDERIQA
  SKKLKGPQKFQFDGDKKSFLEDIRKALYASKIISYAQGFMLLRQAATEFGWTLNYGGIALMWRGGCIIRSVFLGK
  IKDAFDRNPELQNLLLDDFFKSAVENCQDSWRRAVSTGVQAGIPMPCFTTALSFYDGYRHEMLPASLIQAQRDYF
  GAHTYELLAKPGQFIHTNWTGHGGTVSSSSYNA

• Structural information:
  • Interpro: IPR008927  IPR013328  IPR006114  IPR006113  IPR006115   IPR006184  IPR036291  IPR006183  
  • Prosite: PS00461
  • PDB: 2JKV 4GWG 4GWK 5UQ9
  • PDBsum: 2JKV 4GWG 4GWK 5UQ9
  • STRING: ENSP00000270776
• Other Databases: GeneCards:  PGD  Malacards:  PGD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050661	NADP binding	IBA	molecular function
GO:0046177	D-gluconate catabolic process	IBA	biological process
GO:0009051	pentose-phosphate shunt, oxidative branch	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IBA	molecular function
GO:0006098	pentose-phosphate shunt	ISS	biological process
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	ISS	molecular function
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019521	D-gluconate metabolic process	IEA	biological process
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006098	pentose-phosphate shunt	TAS	biological process
GO:0019322	pentose biosynthetic process	IEA	biological process
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0009051	pentose-phosphate shunt, oxidative branch	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00480	Glutathione metabolism
hsa00030	Pentose phosphate pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq