Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2673
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamine--fructose-6-phosphate transaminase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GFPT1
Synonyms (NCBI Gene) Gene synonyms aliases
CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS12
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199678034 G>A,C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity 3 prime UTR variant
rs201322234 G>A Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs372725563 C>T Likely-pathogenic Coding sequence variant, missense variant
rs387906638 T>C Pathogenic Coding sequence variant, missense variant
rs775399768 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001464 hsa-miR-16-5p pSILAC 18668040
MIRT016186 hsa-miR-590-3p Sequencing 20371350
MIRT017993 hsa-miR-335-5p Microarray 18185580
MIRT025445 hsa-miR-34a-5p Proteomics 21566225
MIRT025445 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0006002 Process Fructose 6-phosphate metabolic process IBA 21873635
GO:0006047 Process UDP-N-acetylglucosamine metabolic process IBA 21873635
GO:0006048 Process UDP-N-acetylglucosamine biosynthetic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138292 4241 ENSG00000198380
Protein
UniProt ID Q06210
Protein 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)
Protein function Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes BMAL1 and CRY1 (By simil
PDB 2V4M , 2ZJ3 , 2ZJ4 , 6R4E , 6R4F , 6R4G , 6R4H , 6R4I , 6R4J , 6SVM , 6SVO , 6SVP , 6SVQ , 6ZMJ , 6ZMK , 7NDL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13522 GATase_6 70 210 Domain
PF01380 SIS 380 509 SIS domain Domain
PF01380 SIS 551 682 SIS domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. {ECO:0000269|PubMed:11679416}.
Sequence
MCGIFAYLNYHVPRTRREILETLIKGLQRLEYRGYDSAGVGFDGGNDKDWEANACKIQLI
KKKGKVKALDEEVHKQQDMDLDIEFDVHLGIAHTRWATHGEPSPVNSHPQRSDKNNEFIV
IHNGIITNYKDLKKFLESKGYDFESETDTETIAKLVKYMYDNRESQDTSFTTLVERVIQQ
LEGAFALVFKSVHFPGQAVGTRRGSPLLIG
VRSEHKLSTDHIPILYRTARTQIGSKFTRW
GSQGERGKDKKGSCNLSRVDSTTCLFPVEEKAVEYYFASDASAVIEHTNRVIFLEDDDVA
AVVDGRLSIHRIKRTAGDHPGRAVQTLQMELQQIMKGNFSSFMQKEIFEQPESVVNTMRG
RVNFDDYTVNLGGLKDHIKEIQRCRRLILIACGTSYHAGVATRQVLEELTELPVMVELAS
DFLDRNTPVFRDDVCFFLSQSGETADTLMGLRYCKERGALTVGITNTVGSSISRETDCGV
HINAGPEIGVASTKAYTSQFVSLVMFALM
MCDDRISMQERRKEIMLGLKRLPDLIKEVLS
MDDEIQKLATELYHQKSVLIMGRGYHYATCLEGALKIKEITYMHSEGILAGELKHGPLAL
VDKLMPVIMIIMRDHTYAKCQNALQQVVARQGRPVVICDKEDTETIKNTKRTIKVPHSVD
CLQGILSVIPLQLLAFHLAVLR
GYDVDFPRNLAKSVTVE
Sequence length 699
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alanine, aspartate and glutamate metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars
Insulin resistance
Diabetic cardiomyopathy
  XBP1(S) activates chaperone genes
Defective GFPT1 causes CMSTA1
Synthesis of UDP-N-acetyl-glucosamine
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Myasthenic syndrome Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 12 rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
29905857, 21310273, 23794683, 23569079, 23488891, 28464723, 28712002, 27604308, 25765662
Myasthenia gravis Myasthenias rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913
View all (8 more)
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
29905857
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Myasthenic Syndrome congenital myasthenic syndrome 12 GenCC
Congenital Myasthenic Syndromes With Glycosylation Defect congenital myasthenic syndromes with glycosylation defect GenCC
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 33234735
Adenocarcinoma of Lung Associate 35396334
Breast Neoplasms Associate 26715276, 31019204, 34974534
Carcinoma Hepatocellular Associate 25672227, 28186970
Carcinoma Non Small Cell Lung Stimulate 30790354
Carcinoma Pancreatic Ductal Associate 32149084, 33517899
Cholangiocarcinoma Associate 28262738
Congenital myasthenic syndrome ib Associate 23794683, 34978387, 35694932
Diabetes Mellitus Type 2 Associate 1460020
Drug Related Side Effects and Adverse Reactions Inhibit 30790354