Details for: CFTR

Gene ID: 1080

Symbol: CFTR

Ensembl ID: ENSG00000001626

Description: CF transmembrane conductance regulator

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 5.49
    Marker Score: 16018
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 4.91
    Marker Score: 14575
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.55
    Marker Score: 4363
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.9
    Marker Score: 11187
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.77
    Marker Score: 31912
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 3.23
    Marker Score: 3359
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.98
    Marker Score: 6172
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.73
    Marker Score: 7795
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.23
    Marker Score: 1550
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.93
    Marker Score: 8054
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.71
    Marker Score: 492
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.58
    Marker Score: 925.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.58
    Marker Score: 3786
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167997
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.43
    Marker Score: 2716
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.43
    Marker Score: 354
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.37
    Marker Score: 1511
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.34
    Marker Score: 825
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.26
    Marker Score: 398
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.24
    Marker Score: 2952
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.22
    Marker Score: 1218.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.06
    Marker Score: 2147
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.05
    Marker Score: 1304
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 792
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.02
    Marker Score: 3202
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.02
    Marker Score: 464
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71778
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48001
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.99
    Marker Score: 373
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.97
    Marker Score: 33703
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.96
    Marker Score: 577
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.96
    Marker Score: 1741
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1537
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14766
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5339
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2733
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.88
    Marker Score: 465
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.87
    Marker Score: 13995
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5278
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 330
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.82
    Marker Score: 540
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.8
    Marker Score: 195
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.78
    Marker Score: 1846
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.76
    Marker Score: 219
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.74
    Marker Score: 307.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.74
    Marker Score: 300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 469
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.73
    Marker Score: 6243.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 660
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.72
    Marker Score: 4331
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.72
    Marker Score: 394
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2969.5
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.71
    Marker Score: 825
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.7
    Marker Score: 185
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.7
    Marker Score: 937
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.69
    Marker Score: 175
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.68
    Marker Score: 483
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.68
    Marker Score: 1558
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.67
    Marker Score: 1218
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.66
    Marker Score: 1018
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 430.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.64
    Marker Score: 4177
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.62
    Marker Score: 1318
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.62
    Marker Score: 989
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.59
    Marker Score: 817
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.59
    Marker Score: 291
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.59
    Marker Score: 938
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.59
    Marker Score: 2808
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.58
    Marker Score: 209.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 233
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.55
    Marker Score: 178
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.55
    Marker Score: 574
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.54
    Marker Score: 254
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.54
    Marker Score: 477
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.54
    Marker Score: 2250
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.54
    Marker Score: 163
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.52
    Marker Score: 133
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.52
    Marker Score: 632
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.52
    Marker Score: 164
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.5
    Marker Score: 1135
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.5
    Marker Score: 137
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.49
    Marker Score: 5063
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.49
    Marker Score: 126
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.47
    Marker Score: 226
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.45
    Marker Score: 136
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.45
    Marker Score: 240
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.44
    Marker Score: 569
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.44
    Marker Score: 730
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.43
    Marker Score: 696
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.43
    Marker Score: 137

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Other Information

## Summary CFTR is a transmembrane protein that plays a crucial role in maintaining the integrity of epithelial cells by regulating the transport of various molecules across the cell membrane. It is highly expressed in certain cell types, including epithelial cells of the eye, kidney, and lung. ## Key characteristics * CFTR is a multi-pass transmembrane protein with a molecular weight of approximately 140 kDa. * It belongs to the ABC (ATP-binding cassette) family of ion channels, which are involved in the transport of molecules against their concentration gradient. * CFTR is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. * It is a key regulator of cell migration, proliferation, and differentiation. * Mutations in CFTR have been linked to several human diseases, including cystic fibrosis, which is characterized by the accumulation of mucus in the lungs and other organs. ## Pathways and functions * CFTR is involved in several cellular processes, including: * Transport of ions across the cell membrane * Regulation of epithelial cell migration * Regulation of cell proliferation * Regulation of cell differentiation * Participation in the autophagy process * Regulation of the immune response ## Clinical significance * Mutations in CFTR have been linked to several human diseases, including cystic fibrosis, which is characterized by the accumulation of mucus in the lungs and other organs. * CFTR is a potential therapeutic target for diseases caused by mutations in the CFTR gene. * By understanding the role of CFTR in human health, researchers hope to develop new treatments for these diseases. ## Additional information * CFTR is a highly important protein that plays a critical role in maintaining the integrity of epithelial cells. * Mutations in CFTR have been linked to several human diseases, highlighting its importance in human health. * CFTR is a promising target for therapeutic interventions in diseases caused by mutations in the CFTR gene.

Genular Protein ID: 2052440746

Symbol: CFTR_HUMAN

Name: Cystic fibrosis transmembrane conductance regulator

UniProtKB Accession Codes:

P13569 Q20BG8 Q20BH2 Q2I0A1 Q2I102

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CORUM 1 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 15 DrugCentral 1 EC 1 EMBL 55 EMDB 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 55 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MoonProt 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 74 PDBsum 48 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 10 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2475911

Title: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

PubMed ID: 2475911

DOI: 10.1126/science.2475911

PubMed ID: 1710598

Title: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PubMed ID: 1710598

DOI: 10.1016/0888-7543(91)90503-7

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 1377674

Title: Phosphorylation of the cystic fibrosis transmembrane conductance regulator.

PubMed ID: 1377674

DOI: 10.1016/s0021-9258(18)42339-3

PubMed ID: 7518437

Title: Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion.

PubMed ID: 7518437

DOI: 10.1016/s0021-9258(17)32347-5

PubMed ID: 9385646

Title: Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry.

PubMed ID: 9385646

DOI: 10.1002/pro.5560061117

PubMed ID: 10766763

Title: Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.

PubMed ID: 10766763

DOI: 10.1074/jbc.m910165199

PubMed ID: 10792060

Title: A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.

PubMed ID: 10792060

DOI: 10.1073/pnas.100588797

PubMed ID: 11524016

Title: A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator.

PubMed ID: 11524016

DOI: 10.1021/bi0108195

PubMed ID: 11707463

Title: A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.

PubMed ID: 11707463

DOI: 10.1074/jbc.m110177200

PubMed ID: 12403779

Title: The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3.

PubMed ID: 12403779

DOI: 10.1074/jbc.m201862200

PubMed ID: 12519745

Title: Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells.

PubMed ID: 12519745

DOI: 10.1152/ajpcell.00227.2002

PubMed ID: 15010471

Title: Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-).

PubMed ID: 15010471

DOI: 10.1074/jbc.m313323200

PubMed ID: 15247260

Title: Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator.

PubMed ID: 15247260

DOI: 10.1074/jbc.m403141200

PubMed ID: 1378801

Title: Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.

PubMed ID: 1378801

DOI: 10.1096/fasebj.6.10.1378801

PubMed ID: 12913074

Title: Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.

PubMed ID: 12913074

DOI: 10.1093/hmg/ddg215

PubMed ID: 12588899

Title: Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.

PubMed ID: 12588899

DOI: 10.1113/jphysiol.2002.035790

PubMed ID: 14668433

Title: Abnormal surface liquid pH regulation by cultured cystic fibrosis bronchial epithelium.

PubMed ID: 14668433

DOI: 10.1073/pnas.2634339100

PubMed ID: 15284228

Title: A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity.

PubMed ID: 15284228

DOI: 10.1074/jbc.m407666200

PubMed ID: 16645176

Title: Ion and fluid transport properties of small airways in cystic fibrosis.

PubMed ID: 16645176

DOI: 10.1164/rccm.200506-987oc

PubMed ID: 17036051

Title: In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

PubMed ID: 17036051

DOI: 10.1038/sj.emboj.7601373

PubMed ID: 17462998

Title: Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells.

PubMed ID: 17462998

DOI: 10.1074/jbc.m608531200

PubMed ID: 17434346

Title: CFTR stabilizes ENaC at the plasma membrane.

PubMed ID: 17434346

DOI: 10.1016/j.jcf.2007.03.001

PubMed ID: 17660831

Title: CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.

PubMed ID: 17660831

DOI: 10.1038/nsmb1278

PubMed ID: 19398555

Title: The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.

PubMed ID: 19398555

DOI: 10.1074/jbc.m109.001685

PubMed ID: 19019741

Title: Mechanism of direct bicarbonate transport by the CFTR anion channel.

PubMed ID: 19019741

DOI: 10.1016/j.jcf.2008.10.004

PubMed ID: 19621064

Title: CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium.

PubMed ID: 19621064

DOI: 10.1371/journal.pbio.1000155

PubMed ID: 20933420

Title: Cse1l is a negative regulator of CFTR-dependent fluid secretion.

PubMed ID: 20933420

DOI: 10.1016/j.cub.2010.09.012

PubMed ID: 20008117

Title: Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

PubMed ID: 20008117

DOI: 10.1152/ajplung.00016.2009

PubMed ID: 19923167

Title: CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans.

PubMed ID: 19923167

DOI: 10.1093/humrep/dep406

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22178883

Title: CFTR and TMEM16A are separate but functionally related Cl-channels.

PubMed ID: 22178883

DOI: 10.1159/000335765

PubMed ID: 22207244

Title: Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.

PubMed ID: 22207244

DOI: 10.1007/s00418-011-0904-1

PubMed ID: 22121115

Title: The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.

PubMed ID: 22121115

DOI: 10.1093/hmg/ddr558

PubMed ID: 22119790

Title: Purification of CFTR for mass spectrometry analysis: identification of palmitoylation and other post-translational modifications.

PubMed ID: 22119790

DOI: 10.1093/protein/gzr054

PubMed ID: 24019521

Title: RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).

PubMed ID: 24019521

DOI: 10.1074/jbc.m113.470500

PubMed ID: 23818989

Title: Ubiquitination and degradation of CFTR by the E3 ubiquitin ligase MARCH2 through its association with adaptor proteins CAL and STX6.

PubMed ID: 23818989

DOI: 10.1371/journal.pone.0068001

PubMed ID: 25330774

Title: The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation.

PubMed ID: 25330774

DOI: 10.1002/pmic.201400218

PubMed ID: 26627831

Title: Channel gating regulation by the cystic fibrosis transmembrane conductance regulator (CFTR) first cytosolic loop.

PubMed ID: 26627831

DOI: 10.1074/jbc.m115.704809

PubMed ID: 26823428

Title: Airway acidification initiates host defense abnormalities in cystic fibrosis mice.

PubMed ID: 26823428

DOI: 10.1126/science.aad5589

PubMed ID: 27941075

Title: deltabetagamma-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.

PubMed ID: 27941075

DOI: 10.1152/ajplung.00375.2016

PubMed ID: 28130590

Title: Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.

PubMed ID: 28130590

DOI: 10.1007/s00418-016-1535-3

PubMed ID: 27714810

Title: Essential role of CFTR in PKA-dependent phosphorylation, alkalinization, and hyperpolarization during human sperm capacitation.

PubMed ID: 27714810

DOI: 10.1002/jcp.25634

PubMed ID: 9517543

Title: A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase.

PubMed ID: 9517543

DOI: 10.1002/(sici)1097-0134(19980215)30:3<275::aid-prot7>3.3.co;2-l

PubMed ID: 11304524

Title: Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator.

PubMed ID: 11304524

DOI: 10.1074/jbc.c100154200

PubMed ID: 16331976

Title: Association of the cystic fibrosis transmembrane regulator with CAL: structural features and molecular dynamics.

PubMed ID: 16331976

DOI: 10.1021/bi0516475

PubMed ID: 15528182

Title: Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

PubMed ID: 15528182

DOI: 10.1074/jbc.m410968200

PubMed ID: 19944699

Title: Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry.

PubMed ID: 19944699

DOI: 10.1016/j.jmb.2009.11.051

PubMed ID: 20150177

Title: Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.

PubMed ID: 20150177

DOI: 10.1093/protein/gzq004

PubMed ID: 21931164

Title: The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.

PubMed ID: 21931164

DOI: 10.1074/jbc.m111.292268

PubMed ID: 26444971

Title: Binding screen for cystic fibrosis transmembrane conductance regulator correctors finds new chemical matter and yields insights into cystic fibrosis therapeutic strategy.

PubMed ID: 26444971

DOI: 10.1002/pro.2821

PubMed ID: 1284534

Title: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

PubMed ID: 1284534

DOI: 10.1002/humu.1380010304

PubMed ID: 1699669

Title: Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

PubMed ID: 1699669

DOI: 10.1016/0092-8674(90)90148-8

PubMed ID: 1695717

Title: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

PubMed ID: 1695717

DOI: 10.1038/346366a0

PubMed ID: 2236053

Title: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

PubMed ID: 2236053

DOI: 10.1073/pnas.87.21.8447

PubMed ID: 1710600

Title: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

PubMed ID: 1710600

DOI: 10.1016/0888-7543(91)90510-l

PubMed ID: 1712898

Title: Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.

PubMed ID: 1712898

DOI: 10.1128/mcb.11.8.3886-3893.1991

PubMed ID: 1379210

Title: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

PubMed ID: 1379210

DOI: 10.1016/0888-7543(92)90152-i

PubMed ID: 1284466

Title: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.

PubMed ID: 1284466

DOI: 10.1093/hmg/1.1.11

PubMed ID: 1284468

Title: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

PubMed ID: 1284468

DOI: 10.1093/hmg/1.2.123

PubMed ID: 1284530

Title: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.

PubMed ID: 1284530

DOI: 10.1093/hmg/1.6.441

PubMed ID: 1284529

Title: Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.

PubMed ID: 1284529

DOI: 10.1093/hmg/1.6.439

PubMed ID: 1284548

Title: Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.

PubMed ID: 1284548

DOI: 10.1038/ng0892-321

PubMed ID: 7680525

Title: Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

PubMed ID: 7680525

PubMed ID: 7683628

Title: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.

PubMed ID: 7683628

DOI: 10.1006/geno.1993.1183

PubMed ID: 7508414

Title: Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

PubMed ID: 7508414

DOI: 10.1016/s0888-7543(05)80376-3

PubMed ID: 8406518

Title: Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.

PubMed ID: 8406518

DOI: 10.1159/000154147

PubMed ID: 7683954

Title: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

PubMed ID: 7683954

DOI: 10.1093/hmg/2.1.79

PubMed ID: 7505694

Title: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

PubMed ID: 7505694

DOI: 10.1093/hmg/2.10.1741

PubMed ID: 7504969

Title: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

PubMed ID: 7504969

DOI: 10.1002/humu.1380020511

PubMed ID: 7522211

Title: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PubMed ID: 7522211

DOI: 10.1006/geno.1994.1290

PubMed ID: 7505767

Title: Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.

PubMed ID: 7505767

DOI: 10.1007/bf00218916

PubMed ID: 7513296

Title: Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.

PubMed ID: 7513296

DOI: 10.1007/bf00202817

PubMed ID: 7525450

Title: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.

PubMed ID: 7525450

DOI: 10.1007/bf00211022

PubMed ID: 7520022

Title: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PubMed ID: 7520022

DOI: 10.1159/000154223

PubMed ID: 7524913

Title: Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.

PubMed ID: 7524913

DOI: 10.1093/hmg/3.6.999

PubMed ID: 7524909

Title: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.

PubMed ID: 7524909

DOI: 10.1093/hmg/3.6.1001

PubMed ID: 7517264

Title: Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).

PubMed ID: 7517264

DOI: 10.1002/humu.1380030308

PubMed ID: 8081395

Title: A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.

PubMed ID: 8081395

DOI: 10.1002/humu.1380030412

PubMed ID: 7529962

Title: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PubMed ID: 7529962

PubMed ID: 7539342

Title: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

PubMed ID: 7539342

PubMed ID: 7606851

Title: Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.

PubMed ID: 7606851

DOI: 10.1111/j.1399-0004.1995.tb03931.x

PubMed ID: 7544319

Title: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

PubMed ID: 7544319

DOI: 10.1007/bf00210414

PubMed ID: 8522333

Title: Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

PubMed ID: 8522333

DOI: 10.1007/bf00210305

PubMed ID: 7537150

Title: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

PubMed ID: 7537150

DOI: 10.1002/humu.1380050106

PubMed ID: 7541273

Title: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

PubMed ID: 7541273

DOI: 10.1002/humu.1380050304

PubMed ID: 7581407

Title: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

PubMed ID: 7581407

DOI: 10.1002/humu.1380060216

PubMed ID: 7543567

Title: A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration.

PubMed ID: 7543567

DOI: 10.1016/s0022-3476(95)70310-1

PubMed ID: 7541510

Title: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

PubMed ID: 7541510

DOI: 10.1016/s0890-8508(95)80038-7

PubMed ID: 8800923

Title: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.

PubMed ID: 8800923

DOI: 10.1159/000472165

PubMed ID: 8829633

Title: Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.

PubMed ID: 8829633

DOI: 10.1002/(sici)1098-1004(1996)7:2<151::aid-humu10>3.0.co;2-1

PubMed ID: 8723693

Title: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.

PubMed ID: 8723693

DOI: 10.1002/humu.1380070402

PubMed ID: 8723695

Title: Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.

PubMed ID: 8723695

DOI: 10.1002/(sici)1098-1004(1996)7:4<376::aid-humu18>3.0.co;2-#

PubMed ID: 8956039

Title: Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.

PubMed ID: 8956039

DOI: 10.1002/(sici)1098-1004(1996)8:4<340::aid-humu7>3.0.co;2-b

PubMed ID: 8910473

Title: ATPase activity of the cystic fibrosis transmembrane conductance regulator.

PubMed ID: 8910473

DOI: 10.1074/jbc.271.45.28463

PubMed ID: 9067761

Title: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PubMed ID: 9067761

DOI: 10.1002/(sici)1098-1004(1997)9:2<183::aid-humu13>3.0.co;2-z

PubMed ID: 9101301

Title: Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.

PubMed ID: 9101301

DOI: 10.1002/(sici)1098-1004(1997)9:4<368::aid-humu13>3.0.co;2-0

PubMed ID: 9222768

Title: Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.

PubMed ID: 9222768

DOI: 10.1002/(sici)1098-1004(1997)10:1<86::aid-humu15>3.0.co;2-w

PubMed ID: 9375855

Title: Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.

PubMed ID: 9375855

DOI: 10.1002/(sici)1098-1004(1997)10:5<387::aid-humu9>3.0.co;2-c

Sequence Information:

  • Length: 1480
  • Mass: 168142
  • Checksum: 8D082AA2E768C065
  • Sequence:
    • MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 
LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 
VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 
GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK 
TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 
KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV 
LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 
ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS 
ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ 
MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG 
QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI 
PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 
NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP 
MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV 
PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK 
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM 
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK 
DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL 
LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD 
EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT 
YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA 
ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.