CFTR - Gene info - The Human Protein Atlas

Gene name

CFTR (HGNC Symbol)

Synonyms

ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR

Description

Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]

Chromosome

Cytoband

Chromosome location (bp)

117465784 - 117715971

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000001626 (version 78.38)

Entrez gene

1080

UniProt

P13569 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFTR-001

ENSP00000003084
ENST00000003084

P13569
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P13569 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
A0A024R730 [Target identity:100%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (Sub-family C, member 7), isoform CRA_b {ECO:0000313|EMBL:EAW83531.1}
Q99989 [Target identity:67%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000256|RuleBase:RU000684}
Q5I6N4 [Target identity:28%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33659.1}
Q5I6N5 [Target identity:27%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33658.1}
Q5I6N7 [Target identity:17%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33656.1}
Q5I6N6 [Target identity:16%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33657.1}
Q6KEF9 [Target identity:16%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00702.1}
Q5I6F9 [Target identity:10%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33655.1}; Cystic fibrosis transmembrane conductance regulator/ATP-binding cassette sub-family C member 7 {ECO:0000313|EMBL:AAW33782.1}
Q6KEE7 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00714.1}
Q6KEH8 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00683.1}
Q6KED3 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00728.1}
Q6KEC3 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00738.2}
Q6KEJ1 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00670.1}
Q6KEG9 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00692.1}
Q6KEH3 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00688.1}
Q6KE95 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00766.1}
A4L9V0 [Target identity:3%; Query identity:100%]
Truncated cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:ABO61515.1}
Q6KED8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00723.1}
Q6KEA5 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00756.1}
Q6KEI8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00673.1}
Q6KEB8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00743.1}
Q6KEH6 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00685.1}
Q9UJ19 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:AAB59382.1}
C9J6L5 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|Ensembl:ENSP00000417012}
Q6KEJ7 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00664.1}
Q6KEJ4 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00667.1}
Q6KEI7 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00674.1}
Q6KEI2 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00679.1}
Q6KEG6 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00695.1}
Q6KEA0 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00761.1}
Q6KEF5 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00706.1}
Q6KEB2 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00749.1}
Q6KEC8 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00733.1}
Q6KEG3 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00698.1}
Q6KEE3 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00718.1}
Q9UML7 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:AAC41928.1}

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Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005224 [ATP-binding and phosphorylation-dependent chloride channel activity]
GO:0005254 [chloride channel activity]
GO:0005260 [channel-conductance-controlling ATPase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005769 [early endosome]
GO:0005886 [plasma membrane]
GO:0005902 [microvillus]
GO:0006200 [ATP catabolic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006810 [transport]
GO:0006821 [chloride transport]
GO:0006833 [water transport]
GO:0007585 [respiratory gaseous exchange]
GO:0009986 [cell surface]
GO:0015106 [bicarbonate transmembrane transporter activity]
GO:0015108 [chloride transmembrane transporter activity]
GO:0015701 [bicarbonate transport]
GO:0015705 [iodide transport]
GO:0016021 [integral component of membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016324 [apical plasma membrane]
GO:0016887 [ATPase activity]
GO:0019869 [chloride channel inhibitor activity]
GO:0019899 [enzyme binding]
GO:0030165 [PDZ domain binding]
GO:0030301 [cholesterol transport]
GO:0030321 [transepithelial chloride transport]
GO:0030324 [lung development]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031205 [endoplasmic reticulum Sec complex]
GO:0032870 [cellular response to hormone stimulus]
GO:0034097 [response to cytokine]
GO:0034707 [chloride channel complex]
GO:0042311 [vasodilation]
GO:0042493 [response to drug]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043234 [protein complex]
GO:0043434 [response to peptide hormone]
GO:0043627 [response to estrogen]
GO:0045909 [positive regulation of vasodilation]
GO:0048240 [sperm capacitation]
GO:0051454 [intracellular pH elevation]
GO:0055085 [transmembrane transport]
GO:0060081 [membrane hyperpolarization]
GO:0070062 [extracellular vesicular exosome]
GO:0071320 [cellular response to cAMP]
GO:1902476 [chloride transmembrane transport]
GO:1902943 [positive regulation of voltage-gated chloride channel activity]

1480

168.1

CFTR-002

ENSP00000419254
ENST00000468795

Q6KEC3
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Q6KEC3 [Target identity:43%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00738.2}
Q6KEC8 [Target identity:17%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00733.1}

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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005524 [ATP binding]
GO:0006810 [transport]
GO:0016021 [integral component of membrane]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]

190

21.6

CFTR-004

ENSP00000417012
ENST00000446805

C9J6L5
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C9J6L5 [Target identity:97%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|Ensembl:ENSP00000417012}

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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

4.2

CFTR-005

ENSP00000389119
ENST00000426809

E7EPB6
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E7EPB6 [Target identity:100%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000256|RuleBase:RU000684}
Q5I6N4 [Target identity:29%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33659.1}
Q5I6N5 [Target identity:28%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33658.1}
Q5I6N7 [Target identity:17%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313|EMBL:AAW33656.1}
Q6KEF9 [Target identity:16%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00702.1}
Q6KEH8 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00683.1}
Q6KEC3 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00738.2}
Q6KED3 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00728.1}
Q6KEE7 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00714.1}
Q6KEJ1 [Target identity:5%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00670.1}
Q6KEH3 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00688.1}
Q6KEG9 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00692.1}
Q6KEA5 [Target identity:4%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00756.1}
A4L9V0 [Target identity:3%; Query identity:100%]
Truncated cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:ABO61515.1}
Q6KEI8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00673.1}
Q6KED8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00723.1}
Q6KEB8 [Target identity:3%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00743.1}
Q6KEJ4 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00667.1}
Q6KEI2 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00679.1}
Q6KEJ7 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00664.1}
Q9UJ19 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:AAB59382.1}
C9J6L5 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|Ensembl:ENSP00000417012}
Q6KEH6 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00685.1}
Q6KEG6 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00695.1}
Q6KEF5 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00706.1}
Q6KEC8 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00733.1}
Q6KEB2 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00749.1}
Q6KEA0 [Target identity:2%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00761.1}
Q6KEG3 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00698.1}
Q6KEE3 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00718.1}
Q9UML7 [Target identity:1%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:AAC41928.1}

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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005260 [channel-conductance-controlling ATPase activity]
GO:0005524 [ATP binding]
GO:0006200 [ATP catabolic process]
GO:0006810 [transport]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]

1438

163.4

CFTR-008

ENSP00000470177
ENST00000600166

Q6KEA5
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Q6KEA5 [Target identity:37%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00756.1}
Q6KEA0 [Target identity:22%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator {ECO:0000313|EMBL:CAE00761.1}

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Phobius predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005524 [ATP binding]
GO:0016887 [ATPase activity]

156

17.4

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.