• Gene id: 9563

Gene Summary

• Gene Symbol: H6PD   Gene   UCSC   Ensembl
• Aliases: CORTRD1, G6PDH, GDH, H6PDH
• Gene name: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
• Alternate names: GDH/6PGL endoplasmic bifunctional protein, 6-phosphogluconolactonase, G6PD, H form, glucose 1- dehydrogenase, glucose dehydrogenase, glucose dehyrogenase, glucose-6-phosphate dehydrogenase, salivary,
• Gene location: 1p36.22 (9234766: 9271336)     Exons: 7     NC_000001.11
• Gene summary(Entrez): There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific
• OMIM: 138090

Protein Summary

• Protein general information: O95479  
  • Name: GDH/6PGL endoplasmic bifunctional protein [Includes: Hexose 6 phosphate dehydrogenase (Glucose 1 dehydrogenase) (GDH) (EC 1.1.1.47) (Glucose 6 phosphate dehydrogenase) (EC 1.1.1.363); 6 phosphogluconolactonase (6PGL) (EC 3.1.1.31)]
  • Length: 791  
  • Mass: 88893
  • Tissue specificity: Present in most tissues examined, strongest in liver. {ECO
• Sequence:

  MWNMLIVAMCLALLGCLQAQELQGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGRGHSFSFHGAALTAPKQGQE
  LMAKALESLSCPKDMAPSHCAEHKDQFLQLSQYRQLKTAEDYQALNKDIEAQLQHAGLREAGRIFYFSVPPFAYE
  DIARNINSSCRPGPGAWLRVVLEKPFGHDHFSAQQLATELGTFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKAL
  DGLWNRHHVERVEIIMKETVDAEGRTSFYEEYGVIRDVLQNHLTEVLTLVAMELPHNVSSAEAVLRHKLQVFQAL
  RGLQRGSAVVGQYQSYSEQVRRELQKPDSFHSLTPTFAAVLVHIDNLRWEGVPFILMSGKALDERVGYARILFKN
  QACCVQSEKHWAAAQSQCLPRQLVFHIGHGDLGSPAVLVSRNLFRPSLPSSWKEMEGPPGLRLFGSPLSDYYAYS
  PVRERDAHSVLLSHIFHGRKNFFITTENLLASWNFWTPLLESLAHKAPRLYPGGAENGRLLDFEFSSGRLFFSQQ
  QPEQLVPGPGPAPMPSDFQVLRAKYRESPLVSAWSEELISKLANDIEATAVRAVRRFGQFHLALSGGSSPVALFQ
  QLATAHYGFPWAHTHLWLVDERCVPLSDPESNFQGLQAHLLQHVRIPYYNIHPMPVHLQQRLCAEEDQGAQIYAR
  EISALVANSSFDLVLLGMGADGHTASLFPQSPTGLDGEQLVVLTTSPSQPHRRMSLSLPLINRAKKVAVLVMGRM
  KREITTLVSRVGHEPKKWPISGVLPHSGQLVWYMDYDAFLG

• Structural information:
  • Interpro: IPR005900  IPR001282  IPR019796  IPR022675  IPR022674   IPR006148  IPR036291  IPR037171  
  • Prosite: PS00069
  • CDD: cd01400
  • STRING: ENSP00000473348
• Other Databases: GeneCards:  H6PD  Malacards:  H6PD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0004345	glucose-6-phosphate dehydrogenase activity	IDA	molecular function
GO:0004345	glucose-6-phosphate dehydrogenase activity	IDA	molecular function
GO:0009051	pentose-phosphate shunt, oxidative branch	IMP	biological process
GO:0009051	pentose-phosphate shunt, oxidative branch	IMP	biological process
GO:0017057	6-phosphogluconolactonase activity	ISS	molecular function
GO:2000064	regulation of cortisol biosynthetic process	IMP	biological process
GO:2000064	regulation of cortisol biosynthetic process	IMP	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006098	pentose-phosphate shunt	IEA	biological process
GO:0017057	6-phosphogluconolactonase activity	IEA	molecular function
GO:0050661	NADP binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004345	glucose-6-phosphate dehydrogenase activity	IEA	molecular function
GO:0016614	oxidoreductase activity, acting on CH-OH group of donors	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0017057	6-phosphogluconolactonase activity	IEA	molecular function
GO:0047936	glucose 1-dehydrogenase [NAD(P)] activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0006098	pentose-phosphate shunt	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cortisone reductase deficiency	KEGG:H01111
Cortisone reductase deficiency	KEGG:H01111
Cortisone reductase deficiency	PMID:12858176
Multiple sclerosis	PMID:19935835
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq