GFPT1

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	2p13.3	Start	69,319,780 bp^[1]
Band	2p13.3	End	69,387,250 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 D1\|6 37.81 cM	Start	87,019,828 bp^[2]
Band	6 D1\|6 37.81 cM	End	87,069,179 bp^[2]

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

^[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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198380 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.