GFPT1

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.^[5][6]

GFPT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2V4M, 2ZJ3, 2ZJ4
Identifiers
Aliases	GFPT1, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, CMS12, glutamine--fructose-6-phosphate transaminase 1
External IDs	OMIM: 138292; MGI: 95698; HomoloGene: 68220; GeneCards: GFPT1; OMA:GFPT1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.3 Start 69,319,780 bp[1] End 69,387,250 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 D1|6 37.81 cM Start 87,019,828 bp[2] End 87,069,179 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of sigmoid colon secondary oocyte islet of Langerhans rectum stromal cell of endometrium corpus epididymis jejunal mucosa Achilles tendon cartilage tissue mucosa of ileum Top expressed in left colon parotid gland submandibular gland conjunctival fornix Paneth cell epithelium of stomach condyle Epithelium of choroid plexus fossa seminal vesicula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity transaminase activity carbohydrate derivative binding glutamine-fructose-6-phosphate transaminase (isomerizing) activity Cellular component cytosol extracellular exosome Biological process rhythmic process circadian regulation of gene expression IRE1-mediated unfolded protein response glutamine metabolic process UDP-N-acetylglucosamine biosynthetic process energy reserve metabolic process carbohydrate derivative biosynthetic process fructose 6-phosphate metabolic process carbohydrate derivative metabolic process UDP-N-acetylglucosamine metabolic process protein N-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2673 14583 Ensembl ENSG00000198380 ENSMUSG00000029992 UniProt Q06210 P47856 RefSeq (mRNA) NM_002056 NM_001244710 NM_013528 RefSeq (protein) NP_001231639 NP_002047 NP_038556 Location (UCSC) Chr 2: 69.32 – 69.39 Mb Chr 6: 87.02 – 87.07 Mb PubMed search [3] [4]
Wikidata
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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.^[6]