GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2673 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Glutamine--fructose-6-phosphate transaminase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GFPT1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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CMS12 |
Chromosome
Chromosome number
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2 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p13.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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
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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 |
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Sequence length | 699 | ||||||||||||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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