Gene Gene information from NCBI Gene database.
Entrez ID 2673
Gene name Glutamine--fructose-6-phosphate transaminase 1
Gene symbol GFPT1
Synonyms (NCBI Gene)
CMS12CMSTA1GFAGFATGFAT 1GFAT1GFAT1mGFPTGFPT1LMSLG
Chromosome 2
Chromosome location 2p13.3
Summary 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.
17
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.
1653
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IDA 35229715
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA
GO:0004360 Function Glutamine-fructose-6-phosphate transaminase (isomerizing) activity TAS 8144040
GO:0005515 Function Protein binding IPI 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138292 4241 ENSG00000198380
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
512
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the musculature Pathogenic rs1011196447 RCV001836857
Congenital myasthenic syndrome Pathogenic; Likely pathogenic rs751097758, rs189717232, rs767107089, rs2466152425, rs201322234 RCV003331142
RCV005237774
RCV002282849
RCV002470020
RCV004700267
Congenital myasthenic syndrome 12 Pathogenic; Likely pathogenic rs751097758, rs2104617143, rs2104635880, rs1380136176, rs189717232, rs2104647624, rs2104639109, rs1558728601, rs1671280764, rs377155851, rs757328377, rs1458049542, rs1670857628, rs2466082798, rs201322234
View all (15 more)
RCV001378308
RCV001382936
RCV001382030
RCV001386837
RCV001386293
RCV001844351
RCV001950902
RCV002292217
RCV002631073
RCV002659456
RCV002832964
RCV003153126
RCV003530730
RCV003867361
RCV000022587
RCV000022588
RCV000022589
RCV000022590
RCV000022592
RCV003645860
RCV000650361
RCV000650359
RCV000691983
RCV000707512
RCV000786068
RCV000778063
RCV000778064
RCV001065092
RCV001037299
RCV001237056
Congenital myasthenic syndrome 4C Likely pathogenic; Pathogenic rs922548333, rs1011196447 RCV002248657
RCV002507119
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myasthenic syndrome 13 Conflicting classifications of pathogenicity rs1024585946 RCV005860246
Congenital Myasthenic Syndrome, Recessive Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs113734896, rs879750913, rs113138427, rs747325928, rs141942218, rs201268947, rs886056235, rs751417979, rs886056231, rs35829957, rs370178312, rs372477414 RCV000377913
RCV000273239
RCV000306303
RCV000275805
RCV000370768
RCV000298849
RCV000385482
RCV000336763
RCV000343544
RCV000273645
RCV000395185
RCV000371113
RCV000276530
Gastric cancer Conflicting classifications of pathogenicity rs190072721 RCV005899864
GFPT1-related myopathy with protein aggregates and rimmed vacuoles Conflicting classifications of pathogenicity rs766450555 RCV004587096
Associations from Text MiningDisease associations identified through Pubtator
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