• Gene id: 2673

Gene Summary

• Gene Symbol: GFPT1   Gene   UCSC   Ensembl
• Aliases: CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
• Gene name: glutamine--fructose-6-phosphate transaminase 1
• Alternate names: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1, D-fructose-6-phosphate amidotransferase 1, glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1, glutamine:fructose-6-phosphate amidotransferase 1, hexosephosphate aminotransferas,
• Gene location: 2p13.3 (69387226: 69319779)     Exons: 21     NC_000002.12
• Gene summary(Entrez): This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
• OMIM: 138292

Protein Summary

• Protein general information: Q06210  
  • Name: Glutamine fructose 6 phosphate aminotransferase [isomerizing] 1 (EC 2.6.1.16) (D fructose 6 phosphate amidotransferase 1) (Glutamine:fructose 6 phosphate amidotransferase 1) (GFAT 1) (GFAT1) (Hexosephosphate aminotransferase 1)
  • Length: 699  
  • Mass: 78806
  • Tissue specificity: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. {ECO
• Sequence:

  MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLIKKKGKVKALDEEVHK
  QQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIVIHNGIITNYKDLKKFLESKGYDFESETDTE
  TIAKLVKYMYDNRESQDTSFTTLVERVIQQLEGAFALVFKSVHFPGQAVGTRRGSPLLIGVRSEHKLSTDHIPIL
  YRTARTQIGSKFTRWGSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVA
  AVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRGRVNFDDYTVNLGGLK
  DHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELASDFLDRNTPVFRDDVCFFLSQSGETADTLMG
  LRYCKERGALTVGITNTVGSSISRETDCGVHINAGPEIGVASTKAYTSQFVSLVMFALMMCDDRISMQERRKEIM
  LGLKRLPDLIKEVLSMDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLAL
  VDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVDCLQGILSVIPLQLLA
  FHLAVLRGYDVDFPRNLAKSVTVE

• Structural information:
  • Protein Domains: (2..30-)
    type-2 (/note="Glutamine-amidotransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00609-)
    (377..51-)
    (/note="SIS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00797-)
    (548..68-)
    (/note="SIS-2)
    (/evidence="ECO:0000255|PROS-)
  • Interpro: IPR017932  IPR035466  IPR035490  IPR005855  IPR029055   IPR001347  
  • Prosite: PS51278 PS51464
  • CDD: cd05008 cd05009
  • PDB: 2V4M 2ZJ3 2ZJ4 6R4E 6R4F 6R4G 6R4H 6R4I 6R4J 6SVM 6SVO 6SVP 6SVQ
  • PDBsum: 2V4M 2ZJ3 2ZJ4 6R4E 6R4F 6R4G 6R4H 6R4I 6R4J 6SVM 6SVO 6SVP 6SVQ
  • STRING: ENSP00000349860
• Other Databases: GeneCards:  GFPT1  Malacards:  GFPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0006047	UDP-N-acetylglucosamine metabolic process	IBA	biological process
GO:0006002	fructose 6-phosphate metabolic process	IBA	biological process
GO:0004360	glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IBA	molecular function
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0097367	carbohydrate derivative binding	IEA	molecular function
GO:1901137	carbohydrate derivative biosynthetic process	IEA	biological process
GO:0004360	glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IEA	molecular function
GO:1901135	carbohydrate derivative metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0008483	transaminase activity	IEA	molecular function
GO:0004360	glutamine-fructose-6-phosphate transaminase (isomerizing) activity	TAS	molecular function
GO:0006002	fructose 6-phosphate metabolic process	TAS	biological process
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0004360	glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04931	Insulin resistance
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
type 2 diabetes mellitus	PMID:17574229
obesity	PMID:11118009
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray