Cystic fibrosis transmembrane conductance regulator

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:protein
gptkbp:abbreviation	gptkb:CFTR
gptkbp:alternativeSplicing	yes
gptkbp:associatedWith	cystic fibrosis congenital bilateral absence of the vas deferens
gptkbp:discoveredIn	1989
gptkbp:encodedBy	gptkb:CFTR_gene
gptkbp:Entrez_Gene_ID	1080
gptkbp:expressedIn	gptkb:cancer gptkb:kidney liver pancreas intestine sweat glands epithelial cells reproductive tract
gptkbp:familyMember	gptkb:ATP-binding_cassette_transporter_family
gptkbp:foundIn	gptkb:Homo_sapiens
gptkbp:function	chloride channel
gptkbp:HGNC_ID	1884
https://www.w3.org/2000/01/rdf-schema#label	Cystic fibrosis transmembrane conductance regulator
gptkbp:locatedOnChromosome	7q31.2
gptkbp:location	gptkb:plasma_membrane
gptkbp:molecularWeight	~168 kDa
gptkbp:mutationAssociatedWith	gptkb:ΔF508 gptkb:G542X gptkb:G551D gptkb:N1303K gptkb:W1282X impaired chloride transport
gptkbp:OMIM	602421
gptkbp:otherName	gptkb:ABCC7 gptkb:ATP-binding_cassette_sub-family_C_member_7
gptkbp:PDB	gptkb:6MSM 5UAK 6O1V
gptkbp:regulates	cAMP-dependent phosphorylation ATP binding and hydrolysis
gptkbp:role	defective protein causes cystic fibrosis mutations cause impaired salt and water transport
gptkbp:structure	regulatory domain membrane glycoprotein two membrane-spanning domains two nucleotide-binding domains
gptkbp:targetOfDrug	gptkb:elexacaftor gptkb:ivacaftor gptkb:lumacaftor gptkb:tezacaftor
gptkbp:UniProtID	P13569
gptkbp:bfsParent	gptkb:CFTR_gene
gptkbp:bfsLayer	6