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Protein Ontology report - cystic fibrosis transmembrane conductance regulator
PR:000001044 - http://purl.obolibrary.org/obo/PR_000001044
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000001044   
  PRO namecystic fibrosis transmembrane conductance regulator 
  Synonyms
PRO-Short-label: EXACT:CFTR
Gene-based: RELATED:ABCC7
Other: EXACT:ATP-binding cassette sub-family C member 7 | ATP-binding cassette transporter sub-family C member 7 | cAMP-dependent chloride channel | channel conductance-controlling ATPase
  Definition"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] 
  CommentNote: 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]. 
  PRO Categorygene 
  ParentPR:000044678 chloride channel protein
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 4                                        
         Sequence3                                                  Organism-Sequence 9                                        
         Modification5                                                  Organism-Modification 5                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
PIRSF:PIRSF002777;IUPHARobj:707
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
gene


PR:000001044 cystic fibrosis transmembrane conductance regulator
CFTR

organism-gene


PR:P13569 cystic fibrosis transmembrane conductance regulator (human)
hCFTR

organism-sequence


PR:000063429 cystic fibrosis transmembrane conductance regulator sequence variant N1303K (human)
hCFTR/var:N1303K

organism-sequence


PR:000063523 cystic fibrosis transmembrane conductance regulator sequence variant G551D (human)
hCFTR/var:G551D

organism-sequence


PR:P13569-1 cystic fibrosis transmembrane conductance regulator isoform 1 (human)
hCFTR/iso:1

organism-modification


PR:000036593 cftr isoform 1 N-glycosylated 1 (human)
hCFTR/iso:1/NGlyco:1

organism-modification


PR:000036594 cftr isoform 1 phosphorylated 1 (human)
hCFTR/iso:1/Phos:1
Yes
organism-modification


PR:000036595 cftr isoform 1 phosphorylated 2 (human)
hCFTR/iso:1/Phos:2

organism-sequence


PR:P13569-2 cystic fibrosis transmembrane conductance regulator isoform 2 (human)
hCFTR/iso:2

organism-sequence


PR:P13569-3 cystic fibrosis transmembrane conductance regulator isoform 3 (human)
hCFTR/iso:3
Yes
organism-modification


PR:000046699 cystic fibrosis transmembrane conductance regulator ubiquitinated form (human)
hCFTR/UbiqLys+

organism-modification


PR:000079746 cystic fibrosis transmembrane conductance regulator phosphorylated 1 (human)
hCFTR/Phos:1

organism-gene


PR:P26361 cystic fibrosis transmembrane conductance regulator (mouse)
mCFTR

organism-sequence


PR:P26361-1 cystic fibrosis transmembrane conductance regulator isoform 1 (mouse)
mCFTR/iso:1

organism-sequence


PR:P26361-2 cystic fibrosis transmembrane conductance regulator isoform m2 (mouse)
mCFTR/iso:m2

organism-sequence


PR:P26361-3 cystic fibrosis transmembrane conductance regulator isoform m3 (mouse)
mCFTR/iso:m3

organism-gene


PR:P34158 cystic fibrosis transmembrane conductance regulator (rat)
rCFTR

organism-sequence


PR:P34158-1 cystic fibrosis transmembrane conductance regulator isoform 1 (rat)
rCFTR/iso:1

organism-gene


PR:Q1LX78 cystic fibrosis transmembrane conductance regulator (zebrafish)
z-CFTR

sequence


PR:000001045 cftr isoform 1
CFTR/iso:1

organism-sequence


PR:P13569-1 cystic fibrosis transmembrane conductance regulator isoform 1 (human)
hCFTR/iso:1

organism-modification


PR:000036593 cftr isoform 1 N-glycosylated 1 (human)
hCFTR/iso:1/NGlyco:1

organism-modification


PR:000036594 cftr isoform 1 phosphorylated 1 (human)
hCFTR/iso:1/Phos:1
Yes
organism-modification


PR:000036595 cftr isoform 1 phosphorylated 2 (human)
hCFTR/iso:1/Phos:2

organism-sequence


PR:P26361-1 cystic fibrosis transmembrane conductance regulator isoform 1 (mouse)
mCFTR/iso:1

organism-sequence


PR:P34158-1 cystic fibrosis transmembrane conductance regulator isoform 1 (rat)
rCFTR/iso:1

modification


PR:000001048 cftr isoform 1 glycosylated form
CFTR/iso:1/GlycoRes+

modification


PR:000001049 cftr isoform 1 N-glycosylated 1
CFTR/iso:1/NGlyco:1

organism-modification


PR:000036593 cftr isoform 1 N-glycosylated 1 (human)
hCFTR/iso:1/NGlyco:1

modification


PR:000001050 cftr isoform 1 phosphorylated form
CFTR/iso:1/PhosRes+

modification


PR:000001051 cftr isoform 1 phosphorylated 1
CFTR/iso:1/Phos:1

organism-modification


PR:000036594 cftr isoform 1 phosphorylated 1 (human)
hCFTR/iso:1/Phos:1
Yes
modification


PR:000001052 cftr isoform 1 phosphorylated 2
CFTR/iso:1/Phos:2

organism-modification


PR:000036595 cftr isoform 1 phosphorylated 2 (human)
hCFTR/iso:1/Phos:2

sequence


PR:000001046 cftr isoform 2
CFTR/iso:2

organism-sequence


PR:P13569-2 cystic fibrosis transmembrane conductance regulator isoform 2 (human)
hCFTR/iso:2

sequence


PR:000001047 cftr isoform 3
CFTR/iso:3

organism-sequence


PR:P13569-3 cystic fibrosis transmembrane conductance regulator isoform 3 (human)
hCFTR/iso:3
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000036594 hCFTR/iso:1/Phos:1
Example: UniProtKB:P13569-1, Ser-737/Ser-768/Ser-795/Ser-813, MOD:00046		 enablesGO:0005260 intracellularly ATP-gated chloride channel activity PMID:1716180
GO:0005260 intracellularly ATP-gated chloride channel activity PMID:1716180
PR:P13569-3 hCFTR/iso:3 associated_with_disease_progressionDO:1485 cystic fibrosis PMID:12913074