G6PC: Difference between revisions
Jump to navigation
Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}})) |
m (Bot: HTTP→HTTPS) |
||
| Line 1: | Line 1: | ||
{{Infobox_gene}} | |||
{{ | '''Glucose-6-phosphatase, catalytic subunit''' (glucose 6-phosphatase alpha) is an [[enzyme]] that in humans is encoded by the ''G6PC'' [[gene]].<ref name="pmid7774924">{{cite journal |vauthors=Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J | title = Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17 | journal = Genomics | volume = 25 | issue = 1 | pages = 238–47 |date=Jul 1995 | pmid = 7774924 | pmc = | doi =10.1016/0888-7543(95)80131-5 |display-authors=etal}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2538| accessdate = }}</ref> | ||
}} | |||
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | <!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | ||
{{PBB_Summary | {{PBB_Summary | ||
| section_title = | | section_title = | ||
| summary_text = Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease).<ref name="entrez" | | summary_text = Glucose-6-phosphatase is an integral [[membrane protein]] of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in [[gluconeogenesis]] and [[glycogenolysis]]. Defects in the enzyme cause [[glycogen storage disease type I]] (von Gierke disease).<ref name="entrez" /> | ||
}} | }} | ||
==Interactive pathway map== | |||
{{GlycolysisGluconeogenesis_WP534|highlight=G6PC}} | |||
==See also== | |||
* [[G6PC2]] | |||
* [[G6PC3]] | |||
* [[glucose 6-phosphatase]] | |||
* [[glycogen storage disease type I]] | |||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal |vauthors=Barham SS, Berlin JD, Brackeen RB |title=The fine structural localization of testicular phosphatases in man: the control testis. |journal=Cell Tissue Res. |volume=166 |issue= 4 |pages= 497–510 |year= 1976 |pmid= 175958 |doi=10.1007/BF00225914 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Narisawa K, Igarashi Y, Otomo H, Tada K |title=A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. |journal=Biochem. Biophys. Res. Commun. |volume=83 |issue= 4 |pages= 1360–4 |year= 1978 |pmid= 212064 |doi=10.1016/0006-291X(78)91371-2 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Burchell A, Waddell ID |title=Diagnosis of a novel glycogen storage disease: type 1aSP. |journal=J. Inherit. Metab. Dis. |volume=13 |issue= 3 |pages= 247–9 |year= 1990 |pmid= 2172641 |doi=10.1007/BF01799362 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Hill A, Waddell ID, Hopwood D, Burchell A |title=The microsomal glucose-6-phosphatase enzyme of human gall-bladder. |journal=J. Pathol. |volume=158 |issue= 1 |pages= 53–6 |year= 1989 |pmid= 2547044 |doi= 10.1002/path.1711580111 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Sacks W, Cowburn D, Bigler RE |title=Evidence for the cerebral uptake in vivo from two pools of glucose and the role of glucose-6-phosphatase in removing excess substrate from brain. |journal=Neurochem. Res. |volume=10 |issue= 2 |pages= 201–27 |year= 1985 |pmid= 2986020 |doi=10.1007/BF00964568 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Lei KJ, Chen YT, Chen H |title=Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. |journal=Am. J. Hum. Genet. |volume=57 |issue= 4 |pages= 766–71 |year= 1995 |pmid= 7573034 |doi= | pmc=1801521 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Parvari R, Moses S, Hershkovitz E |title=Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. |journal=J. Inherit. Metab. Dis. |volume=18 |issue= 1 |pages= 21–7 |year= 1995 |pmid= 7623438 |doi=10.1007/BF00711368 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Hwu WL, Chuang SC, Tsai LP |title=Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. |journal=Hum. Mol. Genet. |volume=4 |issue= 6 |pages= 1095–6 |year= 1995 |pmid= 7655466 |doi=10.1093/hmg/4.6.1095 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Kajihara S, Matsuhashi S, Yamamoto K |title=Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 549–55 |year= 1995 |pmid= 7668282 |doi= | pmc=1801279 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Lei KJ, Pan CJ, Shelly LL |title=Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. |journal=J. Clin. Invest. |volume=93 |issue= 5 |pages= 1994–9 |year= 1994 |pmid= 8182131 |doi=10.1172/JCI117192 | pmc=294308 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Lei KJ, Shelly LL, Pan CJ |title=Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. |journal=Science |volume=262 |issue= 5133 |pages= 580–3 |year= 1993 |pmid= 8211187 |doi=10.1126/science.8211187 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Schmoll D, Allan BB, Burchell A |title=Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells. |journal=FEBS Lett. |volume=383 |issue= 1-2 |pages= 63–6 |year= 1996 |pmid= 8612793 |doi=10.1016/0014-5793(96)00224-4 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Lei KJ, Chen H, Pan CJ |title=Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 203–9 |year= 1996 |pmid= 8640227 |doi= 10.1038/ng0696-203 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Chevalier-Porst F, Bozon D, Bonardot AM |title=Mutation analysis in 24 French patients with glycogen storage disease type 1a. |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 358–60 |year= 1996 |pmid= 8733042 |doi=10.1136/jmg.33.5.358 | pmc=1050601 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Lee WJ, Lee HM, Chi CS |title=Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. |journal=Clin. Genet. |volume=50 |issue= 4 |pages= 206–11 |year= 1997 |pmid= 9001800 |doi=10.1111/j.1399-0004.1996.tb02627.x |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Parvari R, Lei KJ, Bashan N |title=Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. |journal=Am. J. Med. Genet. |volume=72 |issue= 3 |pages= 286–90 |year= 1997 |pmid= 9332655 |doi=10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Gerin I, Veiga-da-Cunha M, Achouri Y |title=Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. |journal=FEBS Lett. |volume=419 |issue= 2-3 |pages= 235–8 |year= 1998 |pmid= 9428641 |doi=10.1016/S0014-5793(97)01463-4 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Kure S, Suzuki Y, Matsubara Y |title=Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 2 |pages= 426–31 |year= 1998 |pmid= 9675154 |doi= 10.1006/bbrc.1998.8985 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal |vauthors=Pan CJ, Lei KJ, Chou JY |title=Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. |journal=J. Biol. Chem. |volume=273 |issue= 34 |pages= 21658–62 |year= 1998 |pmid= 9705299 |doi=10.1074/jbc.273.34.21658 }} | ||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{ | <!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. --> | ||
{{ | {{PBB_Controls | ||
| update_page = yes | |||
| require_manual_inspection = no | |||
| update_protein_box = yes | |||
| update_summary = yes | |||
| update_citations = yes | |||
}} | |||
{{gene-17-stub}} | |||
Latest revision as of 08:35, 31 August 2017
| VALUE_ERROR (nil) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Aliases | |||||||
| External IDs | GeneCards: [1] | ||||||
| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez |
|
| |||||
| Ensembl |
|
| |||||
| UniProt |
|
| |||||
| RefSeq (mRNA) |
|
| |||||
| RefSeq (protein) |
|
| |||||
| Location (UCSC) | n/a | n/a | |||||
| PubMed search | n/a | n/a | |||||
| Wikidata | |||||||
| |||||||
Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene.[1][2]
Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease).[2]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
Glycolysis and Gluconeogenesis edit
- ↑ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".
See also
References
- ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, et al. (Jul 1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
- ↑ 2.0 2.1 "Entrez Gene: G6PC glucose-6-phosphatase, catalytic subunit".
Further reading
- Barham SS, Berlin JD, Brackeen RB (1976). "The fine structural localization of testicular phosphatases in man: the control testis". Cell Tissue Res. 166 (4): 497–510. doi:10.1007/BF00225914. PMID 175958.
- Narisawa K, Igarashi Y, Otomo H, Tada K (1978). "A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system". Biochem. Biophys. Res. Commun. 83 (4): 1360–4. doi:10.1016/0006-291X(78)91371-2. PMID 212064.
- Burchell A, Waddell ID (1990). "Diagnosis of a novel glycogen storage disease: type 1aSP". J. Inherit. Metab. Dis. 13 (3): 247–9. doi:10.1007/BF01799362. PMID 2172641.
- Hill A, Waddell ID, Hopwood D, Burchell A (1989). "The microsomal glucose-6-phosphatase enzyme of human gall-bladder". J. Pathol. 158 (1): 53–6. doi:10.1002/path.1711580111. PMID 2547044.
- Sacks W, Cowburn D, Bigler RE, et al. (1985). "Evidence for the cerebral uptake in vivo from two pools of glucose and the role of glucose-6-phosphatase in removing excess substrate from brain". Neurochem. Res. 10 (2): 201–27. doi:10.1007/BF00964568. PMID 2986020.
- Lei KJ, Chen YT, Chen H, et al. (1995). "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus". Am. J. Hum. Genet. 57 (4): 766–71. PMC 1801521. PMID 7573034.
- Parvari R, Moses S, Hershkovitz E, et al. (1995). "Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab". J. Inherit. Metab. Dis. 18 (1): 21–7. doi:10.1007/BF00711368. PMID 7623438.
- Hwu WL, Chuang SC, Tsai LP, et al. (1995). "Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia". Hum. Mol. Genet. 4 (6): 1095–6. doi:10.1093/hmg/4.6.1095. PMID 7655466.
- Kajihara S, Matsuhashi S, Yamamoto K, et al. (1995). "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan". Am. J. Hum. Genet. 57 (3): 549–55. PMC 1801279. PMID 7668282.
- Lei KJ, Pan CJ, Shelly LL, et al. (1994). "Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a". J. Clin. Invest. 93 (5): 1994–9. doi:10.1172/JCI117192. PMC 294308. PMID 8182131.
- Lei KJ, Shelly LL, Pan CJ, et al. (1993). "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a". Science. 262 (5133): 580–3. doi:10.1126/science.8211187. PMID 8211187.
- Schmoll D, Allan BB, Burchell A (1996). "Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells". FEBS Lett. 383 (1–2): 63–6. doi:10.1016/0014-5793(96)00224-4. PMID 8612793.
- Lei KJ, Chen H, Pan CJ, et al. (1996). "Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse". Nat. Genet. 13 (2): 203–9. doi:10.1038/ng0696-203. PMID 8640227.
- Chevalier-Porst F, Bozon D, Bonardot AM, et al. (1996). "Mutation analysis in 24 French patients with glycogen storage disease type 1a". J. Med. Genet. 33 (5): 358–60. doi:10.1136/jmg.33.5.358. PMC 1050601. PMID 8733042.
- Lee WJ, Lee HM, Chi CS, et al. (1997). "Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family". Clin. Genet. 50 (4): 206–11. doi:10.1111/j.1399-0004.1996.tb02627.x. PMID 9001800.
- Parvari R, Lei KJ, Bashan N, et al. (1997). "Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies". Am. J. Med. Genet. 72 (3): 286–90. doi:10.1002/(SICI)1096-8628(19971031)72:3<286::AID-AJMG6>3.0.CO;2-P. PMID 9332655.
- Gerin I, Veiga-da-Cunha M, Achouri Y, et al. (1998). "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib". FEBS Lett. 419 (2–3): 235–8. doi:10.1016/S0014-5793(97)01463-4. PMID 9428641.
- Kure S, Suzuki Y, Matsubara Y, et al. (1998). "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11". Biochem. Biophys. Res. Commun. 248 (2): 426–31. doi:10.1006/bbrc.1998.8985. PMID 9675154.
- Pan CJ, Lei KJ, Chou JY (1998). "Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase". J. Biol. Chem. 273 (34): 21658–62. doi:10.1074/jbc.273.34.21658. PMID 9705299.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |