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CFTR

GENERAL INFORMATION

Gene name

 CFTR

Gene description

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

Protein class

 Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (gallbladder, rectum)
GTEx:Tissue enriched (pancreas)
FANTOM5:Tissue enhanced (pancreas)

Protein evidence

 Evidence at protein level

Protein expression

 Membranous expression in pancreatic intercalated ducts, gallbladder and salivary gland.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA021939 , CAB001951
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (gallbladder, rectum)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (pancreas)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pancreas)

GENE INFORMATION

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

 7

Cytoband

Chromosome location (bp)

 117465784 - 117715971

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000001626 (version 83.38)

Entrez gene

 1080

UniProt

 P13569 (UniProt - Evidence at protein level)

neXtProt

 NX_P13569

Antibodypedia

 CFTR antibodies

PROTEIN BROWSER
CFTR-001
CFTR-002
CFTR-004
CFTR-005
CFTR-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CFTR-001
ENSP00000003084
ENST00000003084
P13569 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
A0A024R730 [Target identity:100%; Query identity:100%]
Cystic fibrosis transmembrane conductance regulator
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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)
Show all
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:0005765 [lysosomal membrane]
GO:0005769 [early endosome]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006695 [cholesterol biosynthetic process]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0006904 [vesicle docking involved in exocytosis]
GO:0007264 [small GTPase mediated signal transduction]
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:0016020 [membrane]
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:0030660 [Golgi-associated vesicle membrane]
GO:0031205 [endoplasmic reticulum Sec complex]
GO:0031901 [early endosome membrane]
GO:0034707 [chloride channel complex]
GO:0035774 [positive regulation of insulin secretion involved in cellular response to glucose stimulus]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043234 [protein complex]
GO:0045921 [positive regulation of exocytosis]
GO:0048240 [sperm capacitation]
GO:0051454 [intracellular pH elevation]
GO:0055037 [recycling endosome]
GO:0055085 [transmembrane transport]
GO:0060081 [membrane hyperpolarization]
GO:0070062 [extracellular exosome]
GO:0071320 [cellular response to cAMP]
GO:1902161 [positive regulation of cyclic nucleotide-gated ion channel activity]
GO:1902476 [chloride transmembrane transport]
GO:1902943 [positive regulation of voltage-gated chloride channel activity]
Show all
 1480 aa
168.1 kDa 		No >9
CFTR-002
ENSP00000419254
ENST00000468795
H0Y8A9 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
Show all
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 (Ezkurdia et al 2014)
Show all
GO:0005254 [chloride channel activity]
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]
GO:1902476 [chloride transmembrane transport]
Show all
 190 aa
21.6 kDa 		No 2
CFTR-004
ENSP00000417012
ENST00000446805
C9J6L5 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005254 [chloride channel activity]
GO:0016020 [membrane]
GO:1902476 [chloride transmembrane transport]
Show all
 37 aa
4.2 kDa 		No 0
CFTR-005
ENSP00000389119
ENST00000426809
E7EPB6 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
Show all
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 (Ezkurdia et al 2014)
Show all
GO:0005254 [chloride channel activity]
GO:0005260 [channel-conductance-controlling ATPase activity]
GO:0005524 [ATP binding]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0031901 [early endosome membrane]
GO:0034707 [chloride channel complex]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
Show all
 1438 aa
163.4 kDa 		No >9
CFTR-008
ENSP00000470177
ENST00000600166
M0QYZ3 [Direct mapping]
Cystic fibrosis transmembrane conductance regulator
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005254 [chloride channel activity]
GO:0005524 [ATP binding]
GO:0008152 [metabolic process]
GO:0016020 [membrane]
GO:0016887 [ATPase activity]
GO:1902476 [chloride transmembrane transport]
Show all
 156 aa
17.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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