[Term]
id: PR:000001045
name: cftr isoform 1
def: "A cystic fibrosis transmembrane conductance regulator that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P13569-1 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN, PMID:9922375]
comment: Category=sequence. Note: This isoform contains an intracellular regulatory domain (R-domain) that, when unphosphorylated, inhibits CFTR. Phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux.
synonym: "CFTR/iso:1" EXACT PRO-short-label [PRO:DNx]
synonym: "cystic fibrosis transmembrane conductance regulator isoform 1" EXACT []
property_value: has_archetype PR:P13569-1
is_a: PR:000001044 ! cystic fibrosis transmembrane conductance regulator