GFPT1

GFPT1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2V4M, 2ZJ3, 2ZJ4
Dynodwyr
Cyfenwau	GFPT1, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, CMS12, glutamine--fructose-6-phosphate transaminase 1
Dynodwyr allanol	OMIM: 138292 HomoloGene: 68220 GeneCards: GFPT1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • transaminase activity • carbohydrate derivative binding • glutamine-fructose-6-phosphate transaminase (isomerizing) activity Cydrannau o'r gell • cytosol • extracellular exosome Prosesau biolegol • proses rythmig • 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
Orthologau
Species	Bod dynol	Llygoden
Entrez	2673	n/a
Ensembl	ENSG00000198380	n/a
UniProt	Q06210	n/a
RefSeq (mRNA)	NM_002056 NM_001244710	n/a
RefSeq (protein)	NP_001231639 NP_002047	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GFPT1 yw GFPT1 a elwir hefyd yn Glutamine--fructose-6-phosphate transaminase 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 2, band 2p13.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GFPT1.

• GFA
• GFAT
• GFPT
• MSLG
• CMS12
• GFAT1
• CMSTA1
• GFAT*1
• GFAT1m
• GFPT1L

Llyfryddiaeth

• "High expression of GFAT1 predicts unfavorable prognosis in patients with hepatocellular carcinoma. ". Oncotarget. 2017. PMID 28186970.
• "A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. ". Hum Mol Genet. 2015. PMID 25765662.
• "Mapping the UDP-N-acetylglucosamine regulatory site of human glucosamine-6P synthase by saturation-transfer difference NMR and site-directed mutagenesis. ". Biochimie. 2014. PMID 24075873.
• "GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. ". Neurology. 2013. PMID 23794683.
• "Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.". Hum Mol Genet. 2013. PMID 23569079.