[Term]
id: PR:P13569
name: cystic fibrosis transmembrane conductance regulator (human)
def: "A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of human." [PRO:CNA, UniProtKB:P13569]
comment: Category=organism-gene.
synonym: "CFTR" RELATED Gene-based [UniProtKB:P13569]
synonym: "ABCC7" RELATED Gene-based [UniProtKB:P13569]
synonym: "hCFTR" EXACT PRO-short-label [PRO:DNx]
synonym: "cAMP-dependent chloride channel (human)" EXACT [UniProtKB:P13569]
synonym: "channel conductance-controlling ATPase (human)" EXACT [UniProtKB:P13569]
synonym: "ATP-binding cassette sub-family C member 7 (human)" EXACT [UniProtKB:P13569]
xref: Reactome:R-HSA-383188 "PR:P13569 located_in GO:0005886"
xref: Reactome:R-HSA-5627079 "PR:P13569 located_in GO:0030660"
xref: Reactome:R-HSA-5627279 "PR:P13569 located_in GO:0005765"
xref: Reactome:R-HSA-6782965 "PR:P13569 located_in GO:0010008"
xref: Reactome:R-HSA-8866837 "PR:P13569 located_in GO:0005789"
xref: Reactome:R-HSA-8868730 "PR:P13569 located_in GO:0005789"
xref: DTO:01100064
xref: UniProtKB:P13569
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000001044 ! cystic fibrosis transmembrane conductance regulator
relationship: has_gene_template HGNC:1884 ! CFTR (human)

[Term]
id: PR:P13569-2
name: cystic fibrosis transmembrane conductance regulator isoform 2 (human)
def: "A cftr isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P13569]
comment: Category=organism-sequence.
synonym: "hCFTR/iso:2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P13569-2
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000001046 ! cftr isoform 2

[Term]
id: PR:P13569-3
name: cystic fibrosis transmembrane conductance regulator isoform 3 (human)
def: "A cftr isoform 3 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hCFTR/iso:3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P13569-3
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000001047 ! cftr isoform 3

[Term]
id: PR:P13569-1
name: cystic fibrosis transmembrane conductance regulator isoform 1 (human)
def: "A cftr isoform 1 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence. Requested by=PubChem.
synonym: "hCFTR/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P13569-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000001045 ! cftr isoform 1

[Term]
id: PR:000036593
name: cftr isoform 1 N-glycosylated 1 (human)
def: "A cftr isoform 1 N-glycosylated 1 in human. UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160." [PMID:7518437, PRO:CNA]
comment: Category=organism-modification.
synonym: "hCFTR/iso:1/NGlyco:1" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160" EXACT PRO-proteoform-std [PRO:DNx]
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000001049 ! cftr isoform 1 N-glycosylated 1
relationship: has_part MOD:00160 ! N4-glycosyl-L-asparagine

[Term]
id: PR:000046699
name: cystic fibrosis transmembrane conductance regulator ubiquitinated form (human)
def: "A cystic fibrosis transmembrane conductance regulator (human) that includes at least one ubiquitinated lysine. UniProtKB:P13569, MOD:01148." [PRO:DNx, Reactome:R-HSA-6782976, Reactome:R-HSA-8867595, Reactome:R-HSA-8869104]
comment: Category=organism-modification.
synonym: "hCFTR/UbiqLys+" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P13569, MOD:01148" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-6782976 "PR:000046699 located_in GO:0010008"
xref: Reactome:R-HSA-8867595 "PR:000046699 located_in GO:0005886"
xref: Reactome:R-HSA-8869104 "PR:000046699 located_in GO:0030665"
intersection_of: has_part MOD:01148 ! ubiquitinylated lysine
intersection_of: PR:P13569 ! cystic fibrosis transmembrane conductance regulator (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[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." [PMID:9922375, PRO:CNA]
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: "ABCC7" RELATED Gene-based []
synonym: "cAMP-dependent chloride channel" EXACT []
synonym: "channel conductance-controlling ATPase" EXACT []
synonym: "ATP-binding cassette sub-family C member 7" EXACT []
synonym: "ATP-binding cassette transporter sub-family C member 7" EXACT []
xref: IUPHARobj:707
xref: PIRSF:PIRSF002777
is_a: PR:000044678 ! chloride channel protein

[Term]
id: PR:000036595
name: cftr isoform 1 phosphorylated 2 (human)
def: "A cftr isoform 1 phosphorylated 2 in human. Example: UniProtKB:P13569-1, Ser-686/Ser-737/Ser-768/Ser-790/Ser-795/Ser-813, MOD:00046." [PMID:1377674, PRO:CNA]
comment: Category=organism-modification.
synonym: "hCFTR/iso:1/Phos:2" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P13569-1, Ser-686/Ser-737/Ser-768/Ser-790/Ser-795/Ser-813, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx]
is_a: PR:000001052 ! cftr isoform 1 phosphorylated 2
relationship: has_part MOD:00046 ! O-phospho-L-serine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036594
name: cftr isoform 1 phosphorylated 1 (human)
def: "A cftr isoform 1 phosphorylated 1 in human. Example: UniProtKB:P13569-1, Ser-737/Ser-768/Ser-795/Ser-813, MOD:00046." [PMID:1377674, PMID:14602047, PMID:1716180, PRO:CNA]
comment: Category=organism-modification.
synonym: "hCFTR/iso:1/Phos:1" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P13569-1, Ser-737/Ser-768/Ser-795/Ser-813, MOD:00046" NARROW PRO-proteoform-std [PRO:DNx]
is_a: PR:000001051 ! cftr isoform 1 phosphorylated 1
relationship: has_part MOD:00046 ! O-phospho-L-serine
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens