Gene Information
Gene NameCFTR
OrganismHomo sapiens (Human)
Gene Length1480
Protein NamesCystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
Target Namecamp-dependent chloride channel f508 deletion
Target TypeSuccessful target
Gene Age1488 ( ENSG00000001626 )
Evolutionary StageVertebrata
AlphaFoldDBP13569
Gene CardCFTR
Uniprot IDP13569
PfamPF00664; PF00005; PF14396
In ASDyes
Allosteric Predictionyes (1.978276066)
Ortholog in AnimalsAlpaca_ CFTR ( ortholog_one2one )
Dog_ CFTR ( ortholog_one2one )
GuineaPig_ CFTR ( ortholog_one2one )
Macaque_ CFTR ( ortholog_one2one )
Mouse_ Cftr ( ortholog_one2one )
Pig_ CFTR ( ortholog_one2one )
Rat_ Cftr ( ortholog_one2one )
Rabbit_ CFTR ( ortholog_one2one )
OhnologsNA
ParalogsABCC1, ABCC8, ABCC3, ABCC10, ABCC9, ABCC5, ABCC6, ABCC4, ABCC12, ABCC2, ABCC11
Tissuepancreas, small.intestine
Tissue SpecificityExpressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:22207244, PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548, PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands, dermal adipocytes and, at lower levels, by epithelial cells (PubMed:28130590). {ECO:0000269|PubMed:1284548, ECO:0000269|PubMed:15716351, ECO:0000269|PubMed:19923167, ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 1XMI  (X-ray  2.25A  )  1XMJ  (X-ray  2.30A  )  2BBO  (X-ray  2.55A  )  2BBS  (X-ray  2.05A  )  2BBT  (X-ray  2.30A  )  2LOB  (NMR  -  )  2PZE  (X-ray  1.70A  )  2PZF  (X-ray  2.00A  )  2PZG  (X-ray  1.80A  )  3GD7  (X-ray  2.70A  )  3ISW  (X-ray  2.80A  )  4WZ6  (X-ray  2.05A  )  5D2D  (X-ray  2.10A  )  5D3E  (X-ray  2.75A  )  5D3F  (X-ray  2.74A  )  5TF7  (X-ray  1.93A  )  5TF8  (X-ray  1.86A  )  5TFA  (X-ray  1.87A  )  5TFB  (X-ray  1.87A  )  5TFC  (X-ray  1.92A  )  5TFD  (X-ray  1.89A  )  5TFF  (X-ray  1.89A  )  5TFG  (X-ray  1.91A  )  5TFI  (X-ray  1.89A  )  5TFJ  (X-ray  1.85A  )  5TGK  (X-ray  1.91A  )  5UAK  (EM  3.87A  )  6GJQ  (X-ray  2.49A  )  6GJS  (X-ray  1.95A  )  6GJU  (X-ray  2.60A  )  6GK4  (X-ray  2.91A  )  6GKD  (X-ray  2.99A  )  6HEP  (X-ray  1.86A  )  6MSM  (EM  3.20A  )  6O1V  (EM  3.20A  )  6O2P  (EM  3.30A  )  6UK1  (X-ray  2.69A  )  6WBS  (X-ray  1.86A  )  6ZE1  (X-ray  2.71A  )  7QI1  (X-ray  1.76A  )  7SV7  (EM  3.80A  )  7SVD  (EM  2.70A  )  7SVR  (EM  3.90A  ) 
DBSNP rs397508635  rs1800073  rs149353983  rs143456784  rs1800074  rs1800074  rs397508220  rs397508272  rs368505753  rs115545701  rs1800076  rs75961395  rs397508403  rs121908750  rs121908751  rs397508464  rs121909031  rs113993958  rs140502196  rs77834169  rs78655421  rs78655421  rs78655421  rs201958172  rs1800078  rs76371115  rs397508700  rs35516286  rs397508718  rs1800079  rs80282562  rs1800080  rs397508759  rs397508765  rs121908802  rs121908803  rs121908752  rs397508780  rs397508783  rs397508790  rs191456345  rs397508804  rs143486492  rs150691494  rs397508817  rs121909016  rs75763344  rs397508819  rs1800085  rs121909011  rs397508139  rs77409459  rs397508146  rs77932196  rs77932196  rs77932196  rs1800086  rs121908753  rs1800087  rs397508152  rs76879328  rs147422190  rs74551128  rs397508195  rs121909009  rs1800089  rs213950  rs79282516  rs121909017  rs397508223  rs1800092  rs1800091  rs1801178  rs121908745  rs74571530  rs121909001  rs397508225  rs77646904  rs35032490  rs397508241  rs121908755  rs121908755  rs121909005  rs75527207  rs121909013  rs121909044  rs75789129  rs193922504  rs75549581  rs80055610  rs397508267  rs80055610  rs121909047  rs1800097  rs1800097  rs121909006  rs397508277  rs397508276  rs397508276  rs397508280  rs397508282  rs121908758  rs1800098  rs397508288  rs397508306  rs766874  rs397508311  rs201978662  rs201124247  rs139468767  rs397508313  rs397508314  rs397508315  rs121908759  rs397508316  rs397508318  rs121909033  rs780526529  rs1800099  rs1177201180  rs1800100  rs397508338  rs150157202  rs397508363  rs145449046  rs397508373  rs1800103  rs397508378  rs397508381  rs193922506  rs1800106  rs1800107  rs121909034  rs121909008  rs397508428  rs193922511  rs121909035  rs151048781  rs397508448  rs1800110  rs141033578  rs1800111  rs397508479  rs397508480  rs193922516  rs1800112  rs200553511  rs144055758  rs150212784  rs142394380  rs121909036  rs121909036  rs78194216  rs121909019  rs121909019  rs121909020  rs1800114  rs200321110  rs78769542  rs78769542  rs202179988  rs121909037  rs139304906  rs79635528  rs397508531  rs36210737  rs36210737  rs397508553  rs397508557  rs75541969  rs397508567  rs1800120  rs1800123  rs75389940  rs34911792  rs267606723  rs121909040  rs74503330  rs121909041  rs11971167  rs397508616  rs77902683  rs121909028  rs121909015  rs397508621  rs121909042  rs80034486  rs193922525  rs113857788  rs397508670  rs397508691  rs4148725 
Subcellular location [CC]Apical cell membrane {ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:1284548, ECO:0000269|PubMed:15247260, ECO:0000269|PubMed:15716351, ECO:0000269|PubMed:17462998, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:20008117, ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590};
Multi-pass membrane protein {ECO:0000269|Ref.55}. Early endosome membrane {ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:20008117};
Multi-pass membrane protein {ECO:0000269|Ref.55}. Cell membrane {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:28001373, ECO:0000269|PubMed:28067262, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:28130590, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:8910473};
Multi-pass membrane protein {ECO:0000269|Ref.55}. Recycling endosome membrane {ECO:0000305|PubMed:17462998};
Multi-pass membrane protein {ECO:0000269|Ref.55}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:25330774};
Multi-pass membrane protein {ECO:0000269|Ref.55}. Nucleus {ECO:0000250|UniProtKB:P34158}. Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity). ER stress induces GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). {ECO:0000250|UniProtKB:P34158, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:20008117, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:22207244, ECO:0000305|PubMed:17462998}.
Mouse PG classificationHPG
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