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GeneQ18025788· pop 5· linked from 4 articles

GFPT1

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Also known as CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.

Gene data

GFPT1
Name
glutamine--fructose-6-phosphate transaminase 1
Type
protein-coding
Position
69,319,616–69,387,313 (−)
Aliases
CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
Ensembl
ENSG00000198380
RefSeq RNA
NM_001244710.2, NM_002056.4, XM_017003801.2, XM_017003802.3, XM_054341376.1
RefSeq protein
NP_001231639.1, NP_002047.2, XP_016859290.1, XP_016859291.1, XP_054197351.1

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].

Gene Ontology

Pathways

Alanine, aspartate and glutamate metabolism - Homo sapiens (human)Amino sugar and nucleotide sugar metabolism - Homo sapiens (human)Insulin resistance - Homo sapiens (human)Diabetic cardiomyopathy - Homo sapiens (human)DiseaseCellular responses to stressDiseases of glycosylationXBP1(S) activates chaperone genesIRE1alpha activates chaperonesUnfolded Protein Response (UPR)

via MyGene.info

Gene · Ensembl

glutamine--fructose-6-phosphate transaminase 1

Symbol
GFPT1
Biotype
Protein coding
Organism
Homo sapiens
Location
2:69,319,616-69,387,313
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
Protein GFPT1 PDB 2V4M.png
Show 8 more facts
HomoloGene ID
68220
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/2673
genomic end
69387250
genomic start
69319780
chromosome
human chromosome 2
cytogenetic location
2p13.3
genetic association
congenital myasthenic syndrome
Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

2 sections
Contents
  • References
  • Further reading

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.

Glutamine-fructose-6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate.

Excerpted from Wikipedia’s “GFPT1” article, available under the CC BY-SA 4.0 licence.

Available in 5 languages

via Wikidata sitelinks · CC0