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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the musculature Pathogenic rs1011196447 RCV001836857
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome Pathogenic; Likely pathogenic rs751097758, rs189717232, rs767107089, rs2466152425, rs201322234 RCV003331142
RCV005237774
RCV002282849
RCV002470020
RCV004700267
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (25 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4C Likely pathogenic; Pathogenic rs922548333, rs1011196447 RCV002248657
RCV002507119
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome 13 Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 2992677
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26715276, 30514266
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26715276, 31019204, 34974534 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25672227, 28186970 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32149084, 33517899 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 28262738 Associate
★☆☆☆☆
Found in Text Mining only
Class III malocclusion Malocclusion HPO_DG
★☆☆☆☆
Found in Text Mining only