H6PD

GDH/6PGL endoplasmic bifunctional protein is a protein that in humans is encoded by the H6PD gene.[5][6]

H6PD
Identifiers
Aliases	H6PD, CORTRD1, G6PDH, GDH, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase, H6PDH
External IDs	OMIM: 138090 MGI: 2140356 HomoloGene: 48275 GeneCards: H6PD
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.22 Start 9,234,775 bp[1] End 9,271,337 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 E2|4 80.65 cM Start 149,979,475 bp[2] End 150,009,023 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • glucose-6-phosphate dehydrogenase activity • oxidoreductase activity • 6-phosphogluconolactonase activity • glucose 1-dehydrogenase [NAD(P) activity] • catalytic activity • hydrolase activity • NADP binding • oxidoreductase activity, acting on CH-OH group of donors Cellular component • endoplasmic reticulum lumen • endoplasmic reticulum Biological process • pentose phosphate pathway • metabolism • oxidation-reduction process • glucose metabolic process • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9563	100198
Ensembl	ENSG00000049239	ENSMUSG00000028980
UniProt	O95479	Q8CFX1
RefSeq (mRNA)	NM_001282587 NM_004285	NM_001291004 NM_173371
RefSeq (protein)	NP_001269516 NP_004276	NP_001277933 NP_775547
Location (UCSC)	Chr 1: 9.23 – 9.27 Mb	Chr 4: 149.98 – 150.01 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

There are two 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 for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000049239 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028980 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ (Jul 1999). "Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression". Blood Cells Mol Dis. 25 (1): 30–7. doi:10.1006/bcmd.1999.0224. PMID 10349511.
6. "Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)".

Further reading

• Tan SG, Ashton GC (1976). "An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva". Hum. Hered. 26 (2): 113–23. doi:10.1159/000152791. PMID 950237.
• Beutler E, Morrison M (1968). "Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase)". J. Biol. Chem. 242 (22): 5289–93. PMID 4169027.
• Toncheva D, Evrev T, Tzoneva M (1982). "G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies". Hum. Hered. 32 (3): 193–6. doi:10.1159/000153290. PMID 7106784.
• Ikegwuonu FI, Jefcoate CR (1999). "Evidence for the involvement of the fatty acid and peroxisomal beta-oxidation pathways in the inhibition by dehydroepiandrosterone (DHEA) and induction by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and benz(a)anthracene (BA) of cytochrome P4501B1 (CYP1B1) in mouse embryo fibroblasts (C3H10T1/2 cells)". Mol. Cell. Biochem. 198 (1–2): 89–100. doi:10.1023/A:1006954216233. PMID 10497882.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Clarke JL, Mason PJ (2003). "Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity". Arch. Biochem. Biophys. 415 (2): 229–34. doi:10.1016/S0003-9861(03)00229-7. PMID 12831846.
• Draper N, Walker EA, Bujalska IJ, et al. (2003). "Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency". Nat. Genet. 34 (4): 434–9. doi:10.1038/ng1214. PMID 12858176.
• Clark AG, Glanowski S, Nielsen R, et al. (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science. 302 (5652): 1960–3. doi:10.1126/science.1088821. PMID 14671302.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M (2005). "Application of a new chemiluminescence method for the determination of glucose-6-phosphate dehydrogenase activity in healthy and enzyme-deficient individuals". Journal of pharmacological and toxicological methods. 51 (2): 169–74. doi:10.1016/j.vascn.2004.09.002. PMID 15767211.
• Manco L, Gonçalves P, Macedo-Ribeiro S, et al. (2006). "Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis". Haematologica. 90 (8): 1135–6. PMID 16079115.
• Perifanis V, Tziomalos K, Tsatra I, et al. (2006). "Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience". Haematologica. 90 (8): 1136–8. PMID 16079116.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.