H6PD

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; OMA:H6PD - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22 Start 9,234,774 bp [1] End 9,271,337 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 E2|4 80.65 cM Start 150,063,932 bp [2] End 150,093,480 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland germinal epithelium nipple right lobe of liver stromal cell of endometrium body of tongue synovial joint pericardium thoracic diaphragm cardia Top expressed in left lobe of liver lactiferous gland submandibular gland endothelial cell of lymphatic vessel white adipose tissue epithelium of small intestine Ileal epithelium left lung brown adipose tissue right lung More reference expression data BioGPS 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 shunt metabolism 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: 150.06 – 150.09 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. doi: 10.1016/S0021-9258(18)99426-3 . 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. S2CID   6713443.
• 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. Bibcode:2002PNAS...9916899M. 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. S2CID   22772927.
• Clark AG, Glanowski S, Nielsen R, et al. (2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science. 302 (5652): 1960–3. Bibcode:2003Sci...302.1960C. doi:10.1126/science.1088821. PMID   14671302. S2CID   6682593.
• 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. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.