ATP-binding cassette sub-family C member 7

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:protein
gptkbp:activatedBy	gptkb:cAMP-dependent_protein_kinase_(PKA)
gptkbp:alsoKnownAs	gptkb:Cystic_fibrosis_transmembrane_conductance_regulator gptkb:CFTR
gptkbp:associatedWith	cystic fibrosis congenital bilateral absence of the vas deferens
gptkbp:discoveredBy	1989
gptkbp:encodedBy	gptkb:CFTR_gene
gptkbp:Entrez_Gene_ID	ENSG00000001626
gptkbp:expressedIn	epithelial cells
gptkbp:firstDescribed	gptkb:Lap-Chee_Tsui gptkb:Francis_Collins gptkb:John_Riordan
gptkbp:function	chloride channel regulation of salt and water transport
gptkbp:gene	gptkb:ABCC7
gptkbp:HGNC_ID	1884
https://www.w3.org/2000/01/rdf-schema#label	ATP-binding cassette sub-family C member 7
gptkbp:inhibitedBy	CFTR inhibitors
gptkbp:length	1480
gptkbp:locatedOnChromosome	7q31.2 chr7:117,120,017-117,308,718
gptkbp:location	gptkb:plasma_membrane
gptkbp:molecularWeight	~168 kDa
gptkbp:mutationAssociatedWith	gptkb:ΔF508 gptkb:G542X gptkb:G551D gptkb:N1303K gptkb:W1282X defective chloride transport
gptkbp:nucleotide-binding_domains	2
gptkbp:OMIM	602421
gptkbp:orthologInMouse	Cftr
gptkbp:PDB	5UAK
gptkbp:phosphorylates	regulatory domain
gptkbp:protein_subfamily	gptkb:sub-family_C_(CFTR/MRP)
gptkbp:proteinFamily	gptkb:ATP-binding_cassette_transporter_family
gptkbp:regulatory_domain	present
gptkbp:therapeutic_target	gptkb:elexacaftor gptkb:ivacaftor gptkb:lumacaftor gptkb:tezacaftor
gptkbp:transmembraneDomains	2
gptkbp:transported_ion	bicarbonate chloride
gptkbp:UniProtID	P13569
gptkbp:bfsParent	gptkb:CFTR_gene
gptkbp:bfsLayer	6