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Identification
HMDB Protein ID HMDBP01890
Secondary Accession Numbers
  • 7289
Name Glucose-6-phosphate translocase
Synonyms
  1. Glucose-5-phosphate transporter
  2. Solute carrier family 37 member 4
  3. TRG-19
  4. Transformation-related gene 19 protein
Gene Name SLC37A4
Protein Type Enzyme
Biological Properties
General Function Carbohydrate transport and metabolism
Specific Function Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with glucose-6- phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels
Pathways
  • 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
  • Mitochondrial Electron Transport Chain
  • Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1)
  • Triosephosphate isomerase
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
transporter activity
Process
establishment of localization
transport
transmembrane transport
Cellular Location
  1. Multi-pass membrane protein (Potential)
  2. Endoplasmic reticulum membrane
Gene Properties
Chromosome Location Chromosome:1
Locus 11q23.3
SNPs SLC37A4
Gene Sequence
>1290 bp
ATGGCAGCCCAGGGCTATGGCTATTATCGCACTGTGATCTTCTCAGCCATGTTTGGGGGC
TACAGCCTGTATTACTTCAATCGCAAGACCTTCTCCTTTGTCATGCCATCATTGGTGGAA
GAGATCCCTTTGGACAAGGATGATTTGGGGTTCATCACCAGCAGCCAGTCGGCAGCTTAT
GCTATCAGCAAGTTTGTCAGTGGGGTGCTGTCTGACCAGATGAGTGCTCGCTGGCTCTTC
TCTTCTGGGCTGCTCCTGGTTGGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTA
CCTGTCTTTGCTGCCCTCTGGTTCCTTAATGGCCTGGCCCAGGGGCTGGGCTGGCCCCCA
TGTGGGAAGGTCCTGCGGAAGTGGTTTGAGCCATCTCAGTTTGGCACTTGGTGGGCCATC
CTGTCAACCAGCATGAACCTGGCTGGAGGGCTGGGCCCTATCCTGGCAACCATCCTTGCC
CAGAGCTACAGCTGGCGCAGCACGCTGGCCCTATCTGGGGCACTGTGTGTGGTTGTCTCC
TTCCTCTGTCTCCTGCTCATCCACAATGAACCTGCTGATGTTGGACTCCGCAACCTGGAC
CCCATGCCCTCTGAGGGCAAGAAGGGCTCCTTGAAGGAGGAGAGCACCCTGCAGGAGCTG
CTGCTGTCCCCTTACCTGTGGGTGCTCTCCACTGGTTACCTTGTGGTGTTTGGAGTAAAG
ACCTGCTGTACTGACTGGGGCCAGTTCTTCCTTATCCAGGAGAAAGGACAGTCAGCCCTT
GTAGGTAGCTCCTACATGAGTGCCCTGGAAGTTGGGGGCCTTGTAGGCAGCATCGCAGCT
GGCTACCTGTCAGACCGGGCCATGGCAAAGGCGGGACTGTCCAACTACGGGAACCCTCGC
CATGGCCTGTTGCTGTTCATGATGGCTGGCATGACAGTGTCCATGTACCTCTTCCGGGTA
ACAGTGACCAGTGACTCCCCCAAGCTCTGGATCCTGGTATTGGGAGCTGTATTTGGTTTC
TCCTCGTATGGCCCCATTGCCCTGTTTGGAGTCATAGCCAACGAGAGTGCCCCTCCCAAC
TTGTGTGGCACCTCCCACGCCATTGTGGGACTCATGGCCAATGTGGGCGGCTTTCTGGCT
GGGCTGCCCTTCAGCACCATTGCCAAGCACTACAGTTGGAGCACAGCCTTCTGGGTGGCT
GAAGTGATTTGTGCGGCCAGCACGGCTGCCTTCTTCCTCCTACGAAACATCCGCACCAAG
ATGGGCCGAGTGTCCAAGAAGGCTGAGTGA
Protein Properties
Number of Residues 429
Molecular Weight 46359.6
Theoretical pI 8.77
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 84-104
  • 105-125
  • 139-159
  • 167-187
  • 219-239
  • 260-280
  • 302-322
  • 329-349
  • 368-388
  • 394-414
Protein Sequence
>Glucose-6-phosphate translocase
MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAY
AISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPP
CGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVS
FLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVK
TCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPR
HGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPN
LCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK
MGRVSKKAE
GenBank ID Protein 3859932
UniProtKB/Swiss-Prot ID O43826
UniProtKB/Swiss-Prot Entry Name G6PT1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF078163
GeneCard ID SLC37A4
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E: Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett. 1997 Dec 15;419(2-3):235-8. [PubMed:9428641 ]
  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 ]