back to PRO homepage
  Home |   Linked Open Data |   Browse |  
Search

|   Statistics |   Download
 RACE-PRO
 PRO tracker
 Community
 PRO Consortium
 Publications
 Documentation

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:
Back to top
Related Cross References

  Db identifiers
PIRSF:PIRSF002777;IUPHARobj:707
Back to top
Protein Forms Switch to Compact View   

Category  

PRO ID

Name

Short Name

Definition

Ann. Has Annotation?

Comp. In Complex?
gene



PR:000001044

cystic fibrosis transmembrane conductance regulator

CFTR


"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]


organism-gene



PR:P13569

cystic fibrosis transmembrane conductance regulator (human)

hCFTR


"A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of human." [PRO:CNA, UniProtKB:P13569]


organism-sequence



PR:000063429

cystic fibrosis transmembrane conductance regulator sequence variant N1303K (human)

hCFTR/var:N1303K


"A cystic fibrosis transmembrane conductance regulator (human) that has a Lys residue at the position equivalent to Asn-1303 of the amino acid sequence represented by UniProtKB:P13569-1. Example: UniProtKB:P13569-1, Asn-1303, CHEBI:29967." [PRO:DNx, Reactome:R-HSA-5678983]


organism-sequence



PR:000063523

cystic fibrosis transmembrane conductance regulator sequence variant G551D (human)

hCFTR/var:G551D


"A cystic fibrosis transmembrane conductance regulator (human) that has an Asp residue at the position equivalent to Gly-551 of the amino acid sequence represented by UniProtKB:P13569-1. Example: UniProtKB:P13569-1, Gly-551, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-5678977]


organism-sequence



PR:P13569-1

cystic fibrosis transmembrane conductance regulator isoform 1 (human)

hCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of human." [PRO:CNA]


organism-modification



PR:000036593

cftr isoform 1 N-glycosylated 1 (human)

hCFTR/iso:1/NGlyco:1


"A cftr isoform 1 N-glycosylated 1 in human. UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160." [PMID:7518437, PRO:CNA]


organism-modification



PR:000036594

cftr isoform 1 phosphorylated 1 (human)

hCFTR/iso:1/Phos:1


"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]

Yes

organism-modification



PR:000036595

cftr isoform 1 phosphorylated 2 (human)

hCFTR/iso:1/Phos:2


"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]


organism-sequence



PR:P13569-2

cystic fibrosis transmembrane conductance regulator isoform 2 (human)

hCFTR/iso:2


"A cftr isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P13569]


organism-sequence



PR:P13569-3

cystic fibrosis transmembrane conductance regulator isoform 3 (human)

hCFTR/iso:3


"A cftr isoform 3 that is encoded in the genome of human." [PRO:CNA]

Yes

organism-modification



PR:000046699

cystic fibrosis transmembrane conductance regulator ubiquitinated form (human)

hCFTR/UbiqLys+


"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]


organism-modification



PR:000079746

cystic fibrosis transmembrane conductance regulator phosphorylated 1 (human)

hCFTR/Phos:1


"A cystic fibrosis transmembrane conductance regulator (human) that has been phosphorylated on the residue at the position equivalent to Ser-573 of the amino acid sequence represented by UniProtKB:P13569-1. Example: UniProtKB:P13569-1, Ser-573, MOD:00046." [IEDB_epitope:1376512, PRO:DNx]


organism-gene



PR:P26361

cystic fibrosis transmembrane conductance regulator (mouse)

mCFTR


"A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of mouse." [OMA:P26361, PRO:DNx]


organism-sequence



PR:P26361-1

cystic fibrosis transmembrane conductance regulator isoform 1 (mouse)

mCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of mouse." [PRO:CNA]


organism-sequence



PR:P26361-2

cystic fibrosis transmembrane conductance regulator isoform m2 (mouse)

mCFTR/iso:m2


"A cystic fibrosis transmembrane conductance regulator (mouse) 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:P26361-2." [PRO:DNx, UniProtKB:P26361]


organism-sequence



PR:P26361-3

cystic fibrosis transmembrane conductance regulator isoform m3 (mouse)

mCFTR/iso:m3


"A cystic fibrosis transmembrane conductance regulator (mouse) 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:P26361-3." [PRO:DNx, UniProtKB:P26361]


organism-gene



PR:P34158

cystic fibrosis transmembrane conductance regulator (rat)

rCFTR


"A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of rat." [OMA:P34158, PRO:DNx]


organism-sequence



PR:P34158-1

cystic fibrosis transmembrane conductance regulator isoform 1 (rat)

rCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of rat." [PRO:CNA]


organism-gene



PR:Q1LX78

cystic fibrosis transmembrane conductance regulator (zebrafish)

z-CFTR


"A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of zebrafish." [PRO:CNA]


sequence



PR:000001045

cftr isoform 1

CFTR/iso:1


"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." [PMID:9922375, PRO:CNA, PRO:DAN]


organism-sequence



PR:P13569-1

cystic fibrosis transmembrane conductance regulator isoform 1 (human)

hCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of human." [PRO:CNA]


organism-modification



PR:000036593

cftr isoform 1 N-glycosylated 1 (human)

hCFTR/iso:1/NGlyco:1


"A cftr isoform 1 N-glycosylated 1 in human. UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160." [PMID:7518437, PRO:CNA]


organism-modification



PR:000036594

cftr isoform 1 phosphorylated 1 (human)

hCFTR/iso:1/Phos:1


"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]

Yes

organism-modification



PR:000036595

cftr isoform 1 phosphorylated 2 (human)

hCFTR/iso:1/Phos:2


"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]


organism-sequence



PR:P26361-1

cystic fibrosis transmembrane conductance regulator isoform 1 (mouse)

mCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of mouse." [PRO:CNA]


organism-sequence



PR:P34158-1

cystic fibrosis transmembrane conductance regulator isoform 1 (rat)

rCFTR/iso:1


"A cftr isoform 1 that is encoded in the genome of rat." [PRO:CNA]


modification



PR:000001048

cftr isoform 1 glycosylated form

CFTR/iso:1/GlycoRes+


"A cftr isoform 1 that includes at least one glycosylated residue." [PRO:CNA]


modification



PR:000001049

cftr isoform 1 N-glycosylated 1

CFTR/iso:1/NGlyco:1


"A cftr isoform 1 glycosylated form in which the glycosylation is at two Asn residues within the N{P}[ST]{P} motif, located in the fourth extracellular loop. Example: UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160." [PMID:7518437]


organism-modification



PR:000036593

cftr isoform 1 N-glycosylated 1 (human)

hCFTR/iso:1/NGlyco:1


"A cftr isoform 1 N-glycosylated 1 in human. UniProtKB:P13569-1, Asn-894/Asn-900, MOD:00160." [PMID:7518437, PRO:CNA]


modification



PR:000001050

cftr isoform 1 phosphorylated form

CFTR/iso:1/PhosRes+


"A cftr isoform 1 that includes at least one phosphorylated residue." [PRO:CNA]


modification



PR:000001051

cftr isoform 1 phosphorylated 1

CFTR/iso:1/Phos:1


"A cftr isoform 1 phosphorylated form in which the phosphorylation occurs at multiple Ser and/or Thr residues within the PKA consensus sites R[RK]x [ST] located within the regulatory domain (R-domain). Example: UniProtKB:P13569-1, Ser-737/Ser-768/Ser-795/Ser-813, MOD:00046." [PMID:1377674, PMID:14602047]


organism-modification



PR:000036594

cftr isoform 1 phosphorylated 1 (human)

hCFTR/iso:1/Phos:1


"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]

Yes

modification



PR:000001052

cftr isoform 1 phosphorylated 2

CFTR/iso:1/Phos:2


"A cftr isoform 1 phosphorylated form in which the phosphorylation occurs by the action of PKA and PKC at multiple Ser and/or Thr residues within the regulatory domain (R-domain). Example: UniProtKB:P13569-1, Ser-686/Ser-737/Ser-768/Ser-790/Ser-795/Ser-813, MOD:00046." [PMID:1377674]


organism-modification



PR:000036595

cftr isoform 1 phosphorylated 2 (human)

hCFTR/iso:1/Phos:2


"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]


sequence



PR:000001046

cftr isoform 2

CFTR/iso:2


"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:P13569-2 or a 1:1 ortholog thereof." [OMIM:277180, PMID:10766763, PRO:CNA, PRO:DAN]


organism-sequence



PR:P13569-2

cystic fibrosis transmembrane conductance regulator isoform 2 (human)

hCFTR/iso:2


"A cftr isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P13569]


sequence



PR:000001047

cftr isoform 3

CFTR/iso:3


"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:P13569-3 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN]


organism-sequence



PR:P13569-3

cystic fibrosis transmembrane conductance regulator isoform 3 (human)

hCFTR/iso:3


"A cftr isoform 3 that is encoded in the genome of human." [PRO:CNA]

Yes

Back to top
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