H6PD: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''GDH/6PGL endoplasmic bifunctional protein''' is a [[protein]] that in humans is encoded by the ''H6PD'' [[gene]].<ref name="pmid10349511">{{cite journal |vauthors=Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ | title = Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression | journal = Blood Cells Mol Dis | volume = 25 | issue = 1 | pages = 30–7 |date=Jul 1999 | pmid = 10349511 | pmc =  | doi = 10.1006/bcmd.1999.0224 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9563| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
| HGNCid = 4795
| Symbol = H6PD
| AltSymbols =; GDH; DKFZp686A01246; G6PDH; MGC87643
| OMIM = 138090
| ECnumber = 
| Homologene = 48275
| MGIid = 2140356
| GeneAtlas_image1 = PBB_GE_H6PD_206933_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_H6PD_221892_at_tn.png
| Function = {{GNF_GO|id=GO:0004345 |text = glucose-6-phosphate dehydrogenase activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0017057 |text = 6-phosphogluconolactonase activity}} {{GNF_GO|id=GO:0047936 |text = glucose 1-dehydrogenase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005792 |text = microsome}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006006 |text = glucose metabolic process}} {{GNF_GO|id=GO:0006098 |text = pentose-phosphate shunt}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9563
    | Hs_Ensembl = ENSG00000049239
    | Hs_RefseqProtein = NP_004276
    | Hs_RefseqmRNA = NM_004285
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 9217450
    | Hs_GenLoc_end = 9253983
    | Hs_Uniprot = O95479
    | Mm_EntrezGene = 100198
    | Mm_Ensembl = ENSMUSG00000028980
    | Mm_RefseqmRNA = NM_173371
    | Mm_RefseqProtein = NP_775547
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 148823275
    | Mm_GenLoc_end = 148852823
    | Mm_Uniprot = Q3TFM8
  }}
}}
'''Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)''', also known as '''H6PD''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9563| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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 for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells.<ref name="entrez">{{cite web | title = Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9563| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Tan SG, Ashton GC |title=An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva |journal=Hum. Hered. |volume=26 |issue= 2 |pages= 113–23 |year= 1976 |pmid= 950237 |doi=10.1159/000152791 }}
| citations =
*{{cite journal  |vauthors=Beutler E, Morrison M |title=Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase) |journal=J. Biol. Chem. |volume=242 |issue= 22 |pages= 5289–93 |year= 1968 |pmid= 4169027 |doi=  }}
*{{cite journal  | author=Tan SG, Ashton GC |title=An autosomal glucose-6-phosphate dehydrogenase (hexose-6-phosphate dehydrogenase) polymorphism in human saliva. |journal=Hum. Hered. |volume=26 |issue= 2 |pages= 113-23 |year= 1976 |pmid= 950237 |doi=  }}
*{{cite journal  |vauthors=Toncheva D, Evrev T, Tzoneva M |title=G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies |journal=Hum. Hered. |volume=32 |issue= 3 |pages= 193–6 |year= 1982 |pmid= 7106784 |doi=  10.1159/000153290}}
*{{cite journal  | author=Beutler E, Morrison M |title=Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase). |journal=J. Biol. Chem. |volume=242 |issue= 22 |pages= 5289-93 |year= 1968 |pmid= 4169027 |doi=  }}
*{{cite journal  |vauthors=Ikegwuonu FI, Jefcoate CR |title=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) |journal=Mol. Cell. Biochem. |volume=198 |issue= 1–2 |pages= 89–100 |year= 1999 |pmid= 10497882 |doi=10.1023/A:1006954216233 }}
*{{cite journal  | author=Toncheva D, Evrev T, Tzoneva M |title=G6PD in immature and mature human brain. Electrophoretic and enzyme kinetic studies. |journal=Hum. Hered. |volume=32 |issue= 3 |pages= 193-6 |year= 1982 |pmid= 7106784 |doi=  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Mason PJ, Stevens D, Diez A, ''et al.'' |title=Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. |journal=Blood Cells Mol. Dis. |volume=25 |issue= 1 |pages= 30-7 |year= 1999 |pmid= 10349511 |doi= 10.1006/bcmd.1999.0224 }}
*{{cite journal  |vauthors=Clarke JL, Mason PJ |title=Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity |journal=Arch. Biochem. Biophys. |volume=415 |issue= 2 |pages= 229–34 |year= 2003 |pmid= 12831846 |doi=10.1016/S0003-9861(03)00229-7 }}
*{{cite journal  | author=Ikegwuonu FI, Jefcoate CR |title=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). |journal=Mol. Cell. Biochem. |volume=198 |issue= 1-2 |pages= 89-100 |year= 1999 |pmid= 10497882 |doi=  }}
*{{cite journal  | author=Draper N |title=Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency |journal=Nat. Genet. |volume=34 |issue= 4 |pages= 434–9 |year= 2003 |pmid= 12858176 |doi= 10.1038/ng1214 |name-list-format=vanc| author2=Walker EA  | author3=Bujalska IJ  | display-authors=3  | last4=Tomlinson  | first4=Jeremy W  | last5=Chalder  | first5=Susan M  | last6=Arlt  | first6=Wiebke  | last7=Lavery  | first7=Gareth G  | last8=Bedendo  | first8=Oliver  | last9=Ray  | first9=David W }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Clark AG |title=Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios |journal=Science |volume=302 |issue= 5652 |pages= 1960–3 |year= 2003 |pmid= 14671302 |doi= 10.1126/science.1088821 |name-list-format=vanc| author2=Glanowski S  | author3=Nielsen R  | display-authors=3  | last4=Thomas  | first4=PD  | last5=Kejariwal  | first5=A  | last6=Todd  | first6=MA  | last7=Tanenbaum  | first7=DM  | last8=Civello  | first8=D  | last9=Lu  | first9=F }}
*{{cite journal  | author=Clarke JL, Mason PJ |title=Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity. |journal=Arch. Biochem. Biophys. |volume=415 |issue= 2 |pages= 229-34 |year= 2003 |pmid= 12831846 |doi=  }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Draper N, Walker EA, Bujalska IJ, ''et al.'' |title=Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. |journal=Nat. Genet. |volume=34 |issue= 4 |pages= 434-9 |year= 2003 |pmid= 12858176 |doi= 10.1038/ng1214 }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Clark AG, Glanowski S, Nielsen R, ''et al.'' |title=Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. |journal=Science |volume=302 |issue= 5652 |pages= 1960-3 |year= 2003 |pmid= 14671302 |doi= 10.1126/science.1088821 }}
*{{cite journal  |vauthors=Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M |title=Application of a new chemiluminescence method for the determination of glucose-6-phosphate dehydrogenase activity in healthy and enzyme-deficient individuals |journal=Journal of pharmacological and toxicological methods |volume=51 |issue= 2 |pages= 169–74 |year= 2005 |pmid= 15767211 |doi= 10.1016/j.vascn.2004.09.002 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Manco L |title=Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis |journal=Haematologica |volume=90 |issue= 8 |pages= 1135–6 |year= 2006 |pmid= 16079115 |doi= |name-list-format=vanc| author2=Gonçalves P  | author3=Macedo-Ribeiro S  | display-authors=3  | last4=Seabra  | first4=C  | last5=Melo  | first5=P  | last6=Ribeiro  | first6=ML }}
*{{cite journal | author=Atanasov AG, Nashev LG, Schweizer RA, ''et al.'' |title=Hexose-6-phosphate dehydrogenase determines the reaction direction of 11beta-hydroxysteroid dehydrogenase type 1 as an oxoreductase. |journal=FEBS Lett. |volume=571 |issue= 1-3 |pages= 129-33 |year= 2004 |pmid= 15280030 |doi= 10.1016/j.febslet.2004.06.065 }}
*{{cite journal  | author=Perifanis V |title=Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience |journal=Haematologica |volume=90 |issue= 8 |pages= 1136–8 |year= 2006 |pmid= 16079116 |doi= |name-list-format=vanc| author2=Tziomalos K  | author3=Tsatra I  | display-authors=3  | last4=Karyda  | first4=S  | last5=Patsiaoura  | first5=K  | last6=Athanassiou-Metaxa  | first6=M }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Gregory SG |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |name-list-format=vanc| author2=Barlow KF  | author3=McLay KE  | display-authors=3  | last4=Kaul  | first4=R.  | last5=Swarbreck  | first5=D.  | last6=Dunham  | first6=A.  | last7=Scott  | first7=C. E.  | last8=Howe  | first8=K. L.  | last9=Woodfine  | first9=K. }}
*{{cite journal  | author=Gumuslu S, Yucel G, Sarikcioglu SB, Serteser M |title=Application of a new chemiluminescence method for the determination of glucose-6-phosphate dehydrogenase activity in healthy and enzyme-deficient individuals. |journal=Journal of pharmacological and toxicological methods |volume=51 |issue= 2 |pages= 169-74 |year= 2005 |pmid= 15767211 |doi= 10.1016/j.vascn.2004.09.002 }}
*{{cite journal  | author=Manco L, Gonçalves P, Macedo-Ribeiro S, ''et al.'' |title=Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis. |journal=Haematologica |volume=90 |issue= 8 |pages= 1135-6 |year= 2006 |pmid= 16079115 |doi=  }}
*{{cite journal  | author=Perifanis V, Tziomalos K, Tsatra I, ''et al.'' |title=Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience. |journal=Haematologica |volume=90 |issue= 8 |pages= 1136-8 |year= 2006 |pmid= 16079116 |doi=  }}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
}}
{{refend}}
{{refend}}


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{{WikiDoc Sources}}
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Latest revision as of 13:26, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

GDH/6PGL endoplasmic bifunctional protein is a protein that in humans is encoded by the H6PD gene.[1][2]

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.[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "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.


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