|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:ABCC7
gptkb:ATP-binding_cassette_sub-family_C_member_7
|
|
gptkbp:associatedWith
|
cystic fibrosis
congenital bilateral absence of the vas deferens
|
|
gptkbp:biologicalProcess
|
regulation of epithelial fluid transport
regulation of sweat, digestive fluids, and mucus
|
|
gptkbp:cellularComponent
|
gptkb:cell_junction
apical membrane
|
|
gptkbp:discoveredBy
|
gptkb:Francis_Collins
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodedBy
|
gptkb:CFTR_gene
|
|
gptkbp:Entrez_Gene_ID
|
1080
ENSG00000001626
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator
|
|
gptkbp:function
|
chloride channel
regulation of ion transport
|
|
gptkbp:gene
|
gptkb:CFTR
|
|
gptkbp:GO
|
gptkb:GO:0005254
gptkb:GO:0006811
gptkb:GO:0006813
|
|
gptkbp:HGNC_ID
|
1884
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CFTR protein
|
|
gptkbp:length
|
1480 amino acids
|
|
gptkbp:locatedOnChromosome
|
7q31.2
|
|
gptkbp:location
|
gptkb:plasma_membrane
epithelial cells
|
|
gptkbp:molecularWeight
|
~168 kDa
|
|
gptkbp:mutationAssociatedWith
|
loss of function causes cystic fibrosis
ΔF508 is the most common mutation
|
|
gptkbp:OMIM
|
602421
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:PDB
|
5UAK
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:RefSeq
|
gptkb:NM_000492
|
|
gptkbp:regulates
|
activated by cAMP-dependent protein kinase (PKA)
regulated by ATP binding and hydrolysis
|
|
gptkbp:structure
|
gptkb:ABC_transporter_family
regulatory (R) domain
two nucleotide-binding domains
two transmembrane domains
|
|
gptkbp:targetOfDrug
|
gptkb:elexacaftor
gptkb:ivacaftor
gptkb:lumacaftor
gptkb:tezacaftor
|
|
gptkbp:UniProtID
|
P13569
|
|
gptkbp:bfsParent
|
gptkb:CFTR_gene
gptkb:CFTR_modulators
|
|
gptkbp:bfsLayer
|
6
|