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
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
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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myasthenic Syndrome Congenital myasthenic syndrome 12, Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C rs1011196447, rs1553389102, rs1558749457, rs201322234, rs1558773839, rs1558762013, rs1671535986, rs922548333, rs1574066341, rs1558761046, rs1574058076, rs375268742, rs1574066599, rs1671813157, rs1553390600 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Congenital Myasthenic Syndromes With Glycosylation Defect congenital myasthenic syndromes with glycosylation defect N/A N/A GenCC
Associations from Text Mining Disease 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