[Term]
id: PR:000001044
name: cystic fibrosis transmembrane conductance regulator
def: "A chloride channel protein that is a translation product of the human CFTR gene or a 1:1 ortholog thereof. Involved in the transport of chloride ions. The characteristic domain composition of the functional isoform consists of two modules of a membrane-spanning domain (ABC transporter transmembrane region) followed by a nucleotide-binding domain (ABC transporter domains), separated by an intracellular regulatory domain (R-domain). It also contains a C-terminal PDZ-binding region. The R-domain is an inhibitory domain of CFTR, and phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux." [PRO:CNA, PMID:9922375]
comment: Category=gene. Note: The open conformation of the CFTR channel is stabilized via interaction of its N-terminal region with other proteins, most notably filamin. [PRO:DAN, PMID:29779042]
synonym: "CFTR" EXACT PRO-short-label [PRO:DNx]
synonym: "ATP-binding cassette sub-family C member 7" EXACT []
synonym: "ATP-binding cassette transporter sub-family C member 7" EXACT []
synonym: "cAMP-dependent chloride channel" EXACT []
synonym: "channel conductance-controlling ATPase" EXACT []
synonym: "ABCC7" RELATED Gene-based []
xref: IUPHARobj:707
xref: PIRSF:PIRSF002777
property_value: has_archetype PR:P13569
is_a: PR:000044678 ! chloride channel protein