Showing Protein Glucose-6-phosphatase (HMDBP00376)

• 5613

1. G-6-Pase
2. G6Pase
3. G6Pase-alpha
4. Glucose-6-phosphatase alpha

• Adipocytokine signaling pathway
• Carbohydrate digestion and absorption
• Congenital disorder of glycosylation CDG-IId
• Fanconi-bickel syndrome
• Fructose-1,6-diphosphatase deficiency
• Galactose metabolism
• Galactose Metabolism
• Galactosemia
• gluconeogenesis
• Gluconeogenesis
• GLUT-1 deficiency syndrome
• Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
• Glycogenosis, Type IA. Von gierke disease
• Glycogenosis, Type IB
• Glycogenosis, Type IC
• Glycogenosis, Type VII. Tarui disease
• Glycolysis
• Glycolysis / Gluconeogenesis
• Insulin signaling pathway
• Lactose Synthesis
• Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1)
• PI3K-Akt signaling pathway
• Starch and sucrose metabolism
• Triosephosphate isomerase

1. Endoplasmic reticulum membrane
2. Multi-pass membrane protein

>1074 bp
ATGGAGGAAGGAATGAATGTTCTCCATGACTTTGGGATCCAGTCAACACATTACCTCCAG
GTGAATTACCAAGACTCCCAGGACTGGTTCATCTTGGTGTCCGTGATCGCAGACCTCAGG
AATGCCTTCTACGTCCTCTTCCCCATCTGGTTCCATCTTCAGGAAGCTGTGGGCATTAAA
CTCCTTTGGGTAGCTGTGATTGGAGACTGGCTCAACCTCGTCTTTAAGTGGATTCTCTTT
GGACAGCGTCCATACTGGTGGGTTTTGGATACTGACTACTACAGCAACACTTCCGTGCCC
CTGATAAAGCAGTTCCCTGTAACCTGTGAGACTGGACCAGGGAGCCCCTCTGGCCATGCC
ATGGGCACAGCAGGTGTATACTACGTGATGGTCACATCTACTCTTTCCATCTTTCAGGGA
AAGATAAAGCCGACCTACAGATTTCGGTGCTTGAATGTCATTTTGTGGTTGGGATTCTGG
GCTGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCCTCATCAA
GTTGTTGCTGGAGTCCTGTCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGC
ATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCC
ATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAA
GCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGC
CTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTAC
AGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTA
GCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTG
GTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTC
ATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTAA

• PAP2 (PF01569 )

>Glucose-6-phosphatase
MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIK
LLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHA
MGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQ
VVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIV
ASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL

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5. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY: Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science. 1993 Oct 22;262(5133):580-3. [PubMed:8211187 ]
6. Pan CJ, Lei KJ, Chou JY: Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase. J Biol Chem. 1998 Aug 21;273(34):21658-62. [PubMed:9705299 ]
7. Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY: The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis. J Biol Chem. 2002 Sep 6;277(36):32837-42. Epub 2002 Jul 1. [PubMed:12093795 ]
8. Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al.: Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995 Oct;57(4):766-71. [PubMed:7573034 ]
9. Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N: 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. 1995;18(1):21-7. [PubMed:7623438 ]
10. Hwu WL, Chuang SC, Tsai LP, Chang MH, Chuang SM, Wang TR: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. Hum Mol Genet. 1995 Jun;4(6):1095-6. [PubMed:7655466 ]
11. Lee WJ, Lee HM, Chi CS, Shu SG, Lin LY, Lin WH: Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family. Clin Genet. 1996 Oct;50(4):206-11. [PubMed:9001800 ]
12. Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I: Mutation analysis in 24 French patients with glycogen storage disease type 1a. J Med Genet. 1996 May;33(5):358-60. [PubMed:8733042 ]
13. Huner G, Podskarbi T, Schutz M, Baykal T, Sarbat G, Shin YS, Demirkol M: Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. J Inherit Metab Dis. 1998 Jun;21(4):445-6. [PubMed:9700612 ]
14. Sartorato EL, Reis FC, Norato DY, Hackel C: A novel mutation in a Brazilian patient with glycogen storage disease type 1a. J Inherit Metab Dis. 1998 Jun;21(4):447. [PubMed:9700613 ]
15. Keller KM, Schutz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS: A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J Pediatr. 1998 Feb;132(2):360-1. [PubMed:9506659 ]
16. Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online. Hum Mutat. 1999;13(2):173. [PubMed:10094563 ]
17. Trioche P, Francoual J, Chalas J, Capel L, Bernard O, Labrune P: Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online. Hum Mutat. 1999;14(1):91. [PubMed:10447271 ]
18. Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. J Inherit Metab Dis. 1999 Feb;22(1):43-9. [PubMed:10070617 ]
19. Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet. 2000 Mar 13;91(2):107-12. [PubMed:10748407 ]
20. Seydewitz HH, Matern D: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat. 2000 Jan;15(1):115-6. [PubMed:10612834 ]
21. Wu MC, Tsai FJ, Le CC, Lin SP, Wu JY: Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease). Hum Mutat. 2000 Apr;15(4):390. [PubMed:10738005 ]
22. Kozak L, Francova H, Hrabincova E, Stastna S, Peskova K, Elleder M: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5. Hum Mutat. 2000 Jul;16(1):89. [PubMed:10874313 ]
23. Trioche P, Francoual J, Chalas J, Capel L, Lindenbaum A, Odievre M, Labrune P: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. Hum Mutat. 2000 Nov;16(5):444. [PubMed:11058903 ]
24. Wu MC, Tsai FJ, Lee CC, Tsai CH, Wu JY: A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease). Hum Mutat. 2000 Nov;16(5):447. [PubMed:11058910 ]
25. Matern D, Seydewitz HH, Bali D, Lang C, Chen YT: Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. Epub 2002 Jul 27. [PubMed:12373566 ]
26. Angaroni CJ, de Kremer RD, Argarana CE, Paschini-Capra AE, Giner-Ayala AN, Pezza RJ, Pan CJ, Chou JY: Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. Mol Genet Metab. 2004 Nov;83(3):276-9. [PubMed:15542400 ]