Showing Protein Glucose-6-phosphate translocase (HMDBP01890)

• 7289

1. Glucose-5-phosphate transporter
2. Solute carrier family 37 member 4
3. TRG-19
4. Transformation-related gene 19 protein

• Fructose-1,6-diphosphatase deficiency
• Gluconeogenesis
• Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
• Glycogenosis, Type IA. Von gierke disease
• Glycogenosis, Type IB
• Glycogenosis, Type IC
• Oxidative phosphorylation
• Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1)
• Triosephosphate isomerase

1. Multi-pass membrane protein (Potential)
2. Endoplasmic reticulum membrane

>1290 bp
ATGGCAGCCCAGGGCTATGGCTATTATCGCACTGTGATCTTCTCAGCCATGTTTGGGGGC
TACAGCCTGTATTACTTCAATCGCAAGACCTTCTCCTTTGTCATGCCATCATTGGTGGAA
GAGATCCCTTTGGACAAGGATGATTTGGGGTTCATCACCAGCAGCCAGTCGGCAGCTTAT
GCTATCAGCAAGTTTGTCAGTGGGGTGCTGTCTGACCAGATGAGTGCTCGCTGGCTCTTC
TCTTCTGGGCTGCTCCTGGTTGGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTA
CCTGTCTTTGCTGCCCTCTGGTTCCTTAATGGCCTGGCCCAGGGGCTGGGCTGGCCCCCA
TGTGGGAAGGTCCTGCGGAAGTGGTTTGAGCCATCTCAGTTTGGCACTTGGTGGGCCATC
CTGTCAACCAGCATGAACCTGGCTGGAGGGCTGGGCCCTATCCTGGCAACCATCCTTGCC
CAGAGCTACAGCTGGCGCAGCACGCTGGCCCTATCTGGGGCACTGTGTGTGGTTGTCTCC
TTCCTCTGTCTCCTGCTCATCCACAATGAACCTGCTGATGTTGGACTCCGCAACCTGGAC
CCCATGCCCTCTGAGGGCAAGAAGGGCTCCTTGAAGGAGGAGAGCACCCTGCAGGAGCTG
CTGCTGTCCCCTTACCTGTGGGTGCTCTCCACTGGTTACCTTGTGGTGTTTGGAGTAAAG
ACCTGCTGTACTGACTGGGGCCAGTTCTTCCTTATCCAGGAGAAAGGACAGTCAGCCCTT
GTAGGTAGCTCCTACATGAGTGCCCTGGAAGTTGGGGGCCTTGTAGGCAGCATCGCAGCT
GGCTACCTGTCAGACCGGGCCATGGCAAAGGCGGGACTGTCCAACTACGGGAACCCTCGC
CATGGCCTGTTGCTGTTCATGATGGCTGGCATGACAGTGTCCATGTACCTCTTCCGGGTA
ACAGTGACCAGTGACTCCCCCAAGCTCTGGATCCTGGTATTGGGAGCTGTATTTGGTTTC
TCCTCGTATGGCCCCATTGCCCTGTTTGGAGTCATAGCCAACGAGAGTGCCCCTCCCAAC
TTGTGTGGCACCTCCCACGCCATTGTGGGACTCATGGCCAATGTGGGCGGCTTTCTGGCT
GGGCTGCCCTTCAGCACCATTGCCAAGCACTACAGTTGGAGCACAGCCTTCTGGGTGGCT
GAAGTGATTTGTGCGGCCAGCACGGCTGCCTTCTTCCTCCTACGAAACATCCGCACCAAG
ATGGGCCGAGTGTCCAAGAAGGCTGAGTGA

• MFS_1 (PF07690 )

• None

• 84-104
• 105-125
• 139-159
• 167-187
• 219-239
• 260-280
• 302-322
• 329-349
• 368-388
• 394-414

>Glucose-6-phosphate translocase
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAY
AISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPP
CGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVS
FLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVK
TCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPR
HGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPN
LCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK
MGRVSKKAE

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3. Ihara K, Kuromaru R, Hara T: Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. Hum Genet. 1998 Oct;103(4):493-6. [PubMed:9856496 ]
4. Hiraiwa H, Pan CJ, Lin B, Moses SW, Chou JY: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem. 1999 Feb 26;274(9):5532-6. [PubMed:10026167 ]
5. Gerin I, Veiga-da-Cunha M, Noel G, Van Schaftingen E: Structure of the gene mutated in glycogen storage disease type Ib. Gene. 1999 Feb 18;227(2):189-95. [PubMed:10023055 ]
6. Janecke AR, Bosshard NU, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram CR, Janssen B: Molecular diagnosis of type 1c glycogen storage disease. Hum Genet. 1999 Mar;104(3):275-7. [PubMed:10323254 ]
7. Chou JY, Matern D, Mansfield BC, Chen YT: Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002 Mar;2(2):121-43. [PubMed:11949931 ]
8. Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E: A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet. 1998 Oct;63(4):976-83. [PubMed:9758626 ]
9. Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V: Structure and mutation analysis of the glycogen storage disease type 1b gene. FEBS Lett. 1998 Oct 2;436(2):247-50. [PubMed:9781688 ]
10. Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E: The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet. 1999 Sep;7(6):717-23. [PubMed:10482962 ]
11. Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett. 1999 Oct 8;459(2):255-8. [PubMed:10518030 ]
12. Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K: 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. 1998 Jul 20;248(2):426-31. [PubMed:9675154 ]
13. Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K: Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. Am J Med Genet. 1999 Sep 17;86(3):253-7. [PubMed:10482875 ]
14. Janecke AR, Lindner M, Erdel M, Mayatepek E, Moslinger D, Podskarbi T, Fresser F, Stockler-Ipsiroglu S, Hoffmann GF, Utermann G: Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet. 2000 Sep;107(3):285-9. [PubMed:11071391 ]
15. Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW: A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. Hum Mutat. 2000 Jul;16(1):94. [PubMed:10874322 ]
16. Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R: Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum Mutat. 2000 Aug;16(2):177. [PubMed:10923042 ]
17. Kure S, Hou DC, Suzuki Y, Yamagishi A, Hiratsuka M, Fukuda T, Sugie H, Kondo N, Matsubara Y, Narisawa K: Glycogen storage disease type Ib without neutropenia. J Pediatr. 2000 Aug;137(2):253-6. [PubMed:10931421 ]
18. Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. Mol Genet Metab. 2002 Nov;77(3):249-51. [PubMed:12409273 ]
19. Trioche P, Petit F, Francoual J, Gajdos V, Capel L, Pous C, Labrune P: Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. J Inherit Metab Dis. 2004;27(5):621-3. [PubMed:15669677 ]
20. Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y: Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Mol Genet Metab. 2004 Apr;81(4):343-6. [PubMed:15059622 ]