G6PC

G6PC1
Identifiers
Aliases	G6PC1 , glucose-6-phosphatase catalytic subunit, GSD1a, glucose-6-phosphatase catalytic subunit 1, GSD1, G6Pase, G6PC, G6PT
External IDs	OMIM: 613742; MGI: 95607; HomoloGene: 20079; GeneCards: G6PC1; OMA:G6PC1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q21.31 Start 42,900,797 bp [1] End 42,914,438 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 D Start 101,258,387 bp [2] End 101,268,729 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney tubule buccal mucosa cell jejunal mucosa glomerulus metanephric glomerulus human kidney duodenum mucosa of ileum renal medulla Top expressed in right kidney human kidney left lobe of liver gallbladder proximal tubule jejunum epithelium of small intestine duodenum ileum Ileal epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphate ion binding phosphotransferase activity, alcohol group as acceptor hydrolase activity glucose-6-phosphatase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle integral component of endoplasmic reticulum membrane endoplasmic reticulum Biological process phosphorylated carbohydrate dephosphorylation steroid metabolic process glucose homeostasis multicellular organism growth glycogen catabolic process urate metabolic process lipid homeostasis glycogen metabolic process regulation of gene expression response to food phosphate-containing compound metabolic process cholesterol homeostasis glucose 6-phosphate metabolic process triglyceride metabolic process glucose-6-phosphate transport gluconeogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2538 14377 Ensembl ENSG00000131482 ENSMUSG00000078650 UniProt P35575 P35576 RefSeq (mRNA) NM_001270397 NM_000151 NM_008061 RefSeq (protein) NP_000142 NP_001257326 NP_032087 Location (UCSC) Chr 17: 42.9 – 42.91 Mb Chr 11: 101.26 – 101.27 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Glucose-6-phosphatase, catalytic subunit (glucose 6-phosphatase alpha) is an enzyme that in humans is encoded by the G6PC gene. ^{[5] [6]}

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). ^[6]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. ^{[§ 1]}

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|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

1. The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

See also

• G6PC2
• G6PC3
• glucose 6-phosphatase
• glycogen storage disease type I

References

1. GRCh38: Ensembl release 89: ENSG00000131482 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000078650 – 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. 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.
6. "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. S2CID   1018896.
• 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. S2CID   31684550.
• 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. S2CID   2715249.
• 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. S2CID   19623609.
• 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. S2CID   20473459.
• 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. Bibcode:1993Sci...262..580L. 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. S2CID   33796000.
• 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. S2CID   2694838.
• 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. S2CID   21218687.
• 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. S2CID   31851796.
• 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.