GFPT1

GFPT1
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; GeneCards: GFPT1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2V4M, 2ZJ3, 2ZJ4
Enzyme activity
Gene location (Human)
Chr.	Chromosome 2 (human)
End	69,387,250 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	87,069,179 bp
RNA expression pattern
	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
	; ;
	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
Databases	NCBI: entry; OMA: entry
	2673
	14583
	ENSG00000198380
	ENSMUSG00000029992
	Q06210
	P47856
	NM_002056; NM_001244710
	NM_013528
	NP_001231639; NP_002047
	NP_038556
	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.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198380 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029992 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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. doi:10.1016/S0021-9258(19)74026-5. PMID 1460020.
1 2 "Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1".

Schleicher ED, Weigert C (2001). "Role of the hexosamine biosynthetic pathway in diabetic nephropathy". Kidney Int. Suppl. 77: S13–8. doi:10.1046/j.1523-1755.2000.07703.x. 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. doi:10.1016/S0021-9258(18)99202-1. 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. S2CID 25484995.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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 528928. 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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198380 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029992 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1460020-5] 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. doi:10.1016/S0021-9258(19)74026-5. PMID 1460020.

[entrez-6] 1 2 "Entrez Gene: GFPT1 glutamine-fructose-6-phosphate transaminase 1".

GFPT1

References

Further reading