GFPT1

GFPT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2V4M, 2ZJ3, 2ZJ4
Identifiers
Aliases	GFPT1, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, CMS12, glutamine--fructose-6-phosphate transaminase 1
External IDs	OMIM: 138292; MGI: 95698; HomoloGene: 68220; GeneCards: GFPT1; OMA:GFPT1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p13.3 Start 69,319,780 bp End 69,387,250 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 D1|6 37.81 cM Start 87,019,828 bp End 87,069,179 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of sigmoid colon secondary oocyte islet of Langerhans rectum stromal cell of endometrium corpus epididymis jejunal mucosa Achilles tendon cartilage tissue mucosa of ileum Top expressed in left colon parotid gland submandibular gland conjunctival fornix Paneth cell epithelium of stomach condyle Epithelium of choroid plexus fossa seminal vesicula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity transaminase activity carbohydrate derivative binding glutamine-fructose-6-phosphate transaminase (isomerizing) activity Cellular component cytosol extracellular exosome Biological process rhythmic process circadian regulation of gene expression IRE1-mediated unfolded protein response glutamine metabolic process UDP-N-acetylglucosamine biosynthetic process energy reserve metabolic process carbohydrate derivative biosynthetic process fructose 6-phosphate metabolic process carbohydrate derivative metabolic process UDP-N-acetylglucosamine metabolic process protein N-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2673 14583 Ensembl ENSG00000198380 ENSMUSG00000029992 UniProt Q06210 P47856 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: 87.02 – 87.07 Mb PubMed search
Wikidata
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Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.

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.

Further reading

• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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 139241. PMID 12477932. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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 528928. PMID 15489334. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
• 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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)