Hs03447722_cn

• Gene Symbol: GFPT1
• Assay Reference Genome Location: Chr.2:69333220 on build GRCh38
• Cytoband: 2p13.3

Target Gene Details

• Entrez Gene ID: 2673
• Gene Name: glutamine--fructose-6-phosphate transaminase 1
• Gene Aliases: CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG
• Location: Chr.2:69319769-69387254 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GFPT1	NM_001244710.1			NP_001231639.1
	NM_002056.3			NP_002047.2
	XM_017003801.1			XP_016859290.1
	XM_017003802.1			XP_016859291.1
	BC045641.1			AAH45641.1
	M90516.1			AAA58502.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv33940	Chr.2:69115288 - 69789041 on Build GRCh38	Loss	AAK1 ANXA4 NFU1 ANTXR1 SNORA36C GFPT1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transaminase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
fructose 6-phosphate metabolic process
glucosamine biosynthetic process
UDP-N-acetylglucosamine metabolic process
UDP-N-acetylglucosamine biosynthetic process
energy reserve metabolic process
glutamine metabolic process
response to sucrose
cellular response to insulin stimulus
circadian regulation of gene expression
IRE1-mediated unfolded protein response
negative regulation of glycogen biosynthetic process
protein homotetramerization

Function(s)

glutamine-fructose-6-phosphate transaminase (isomerizing) activity
amino acid binding
carbohydrate binding