GFPT1

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GFPT1
Protein GFPT1 PDB 2V4M.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GFPT1, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, CMS12, glutamine--fructose-6-phosphate transaminase 1
External IDs MGI: 95698 HomoloGene: 68220 GeneCards: GFPT1
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for GFPT1
Genomic location for GFPT1
Band 2p13.3 Start 69,319,769 bp[1]
End 69,387,254 bp[1]
RNA expression pattern
PBB GE GFPT1 202722 s at fs.png

PBB GE GFPT1 202721 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002056
NM_001244710

NM_013528

RefSeq (protein)

NP_001231639
NP_002047

NP_038556

Location (UCSC) Chr 2: 69.32 – 69.39 Mb Chr 6: 87.04 – 87.09 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.[5][6]

Glutamine-fructose-6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198380 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029992 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ McKnight GL, Mudri SL, Mathewes SL, Traxinger RR, Marshall S, Sheppard PO, O'Hara PJ (Jan 1993). "Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase". J Biol Chem. 267 (35): 25208–12. PMID 1460020. 
  6. ^ a b "Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1". 

Further reading[edit]

  • Schleicher ED, Weigert C (2001). "Role of the hexosamine biosynthetic pathway in diabetic nephropathy". Kidney Int. Suppl. 77: S13–8. PMID 10997685. 
  • Traxinger RR, Marshall S (1991). "Coordinated regulation of glutamine:fructose-6-phosphate amidotransferase activity by insulin, glucose, and glutamine. Role of hexosamine biosynthesis in enzyme regulation". J. Biol. Chem. 266 (16): 10148–54. PMID 2037571. 
  • Whitmore TE, Mudri SL, McKnight GL (1995). "Physical mapping of the human glutamine:fructose-6-phosphate amidotransferase gene (GFPT) to chromosome 2p13". Genomics. 26 (2): 422–3. doi:10.1016/0888-7543(95)80235-E. PMID 7601477. 
  • Zhou J, Neidigh JL, Espinosa R, et al. (1995). "Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13". Hum. Genet. 96 (1): 99–101. doi:10.1007/BF00214194. PMID 7607664. 
  • Sayeski PP, Paterson AJ, Kudlow JE (1994). "The murine glutamine:fructose-6-phosphate amidotransferase-encoding cDNA sequence". Gene. 140 (2): 289–90. doi:10.1016/0378-1119(94)90560-6. PMID 8144040. 
  • Nerlich AG, Sauer U, Kolm-Litty V, et al. (1998). "Expression of glutamine:fructose-6-phosphate amidotransferase in human tissues: evidence for high variability and distinct regulation in diabetes". Diabetes. 47 (2): 170–8. doi:10.2337/diabetes.47.2.170. PMID 9519709. 
  • Oki T, Yamazaki K, Kuromitsu J, et al. (1999). "cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse". Genomics. 57 (2): 227–34. doi:10.1006/geno.1999.5785. PMID 10198162. 
  • Chang Q, Su K, Baker JR, et al. (2000). "Phosphorylation of human glutamine:fructose-6-phosphate amidotransferase by cAMP-dependent protein kinase at serine 205 blocks the enzyme activity". J. Biol. Chem. 275 (29): 21981–7. doi:10.1074/jbc.M001049200. PMID 10806197. 
  • Niimi M, Ogawara T, Yamashita T, et al. (2001). "Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle". J. Hum. Genet. 46 (10): 566–71. doi:10.1007/s100380170022. PMID 11587069. 
  • DeHaven JE, Robinson KA, Nelson BA, Buse MG (2001). "A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle". Diabetes. 50 (11): 2419–24. doi:10.2337/diabetes.50.11.2419. PMID 11679416. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241Freely accessible. PMID 12477932. 
  • Weigert C, Friess U, Brodbeck K, et al. (2004). "Glutamine:fructose-6-phosphate aminotransferase enzyme activity is necessary for the induction of TGF-beta1 and fibronectin expression in mesangial cells". Diabetologia. 46 (6): 852–5. doi:10.1007/s00125-003-1122-8. PMID 12802498. 
  • Ng DP, Walker WH, Chia KS, et al. (2004). "Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy". Diabetes. 53 (3): 865–9. doi:10.2337/diabetes.53.3.865. PMID 14988277. 
  • Elbein SC, Zheng H, Jia Y, et al. (2005). "Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy". Mol. Genet. Metab. 82 (4): 321–8. doi:10.1016/j.ymgme.2004.05.004. PMID 15308130. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928Freely accessible. PMID 15489334. 
  • Chou KC (2005). "Molecular therapeutic target for type-2 diabetes". J. Proteome Res. 3 (6): 1284–8. doi:10.1021/pr049849v. PMID 15595739. 
  • Weigert C, Thamer C, Brodbeck K, et al. (2005). "The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects". J. Clin. Endocrinol. Metab. 90 (3): 1639–43. doi:10.1210/jc.2004-0058. PMID 15613432. 
  • Burt D, Brodbeck K, Häring HU, et al. (2005). "Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function". Biochim. Biophys. Acta. 1740 (1): 85–90. doi:10.1016/j.bbadis.2005.01.007. PMID 15878746.