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Protein Ontology report - cystic fibrosis transmembrane conductance regulator (human)
PR:P13569 - http://purl.obolibrary.org/obo/PR_P13569
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:P13569   
  PRO namecystic fibrosis transmembrane conductance regulator (human) 
  Synonyms
PRO-Short-label: EXACT:hCFTR
Gene-based: RELATED:ABCC7 | CFTR
Other: EXACT:ATP-binding cassette sub-family C member 7 (human) | cAMP-dependent chloride channel (human) | channel conductance-controlling ATPase (human)
  Definition"A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of human." [PRO:CNA, UniProtKB:P13569
  PRO Categoryorganism-gene 
  ParentPR:000001044 cystic fibrosis transmembrane conductance regulator
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:1884 CFTR (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 5                                        
         Modification0                                                  Organism-Modification 5                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:P13569
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Protein Forms Switch to Compact View   

Category  

PRO ID

Name

Short Name

Definition

Ann. Has Annotation?

comp. In Complex?
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]


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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