Reviewed, UniProtKB/Swiss-Prot P13569 (CFTR_HUMAN)

Names and origin

Protein names

Recommended name:
    Cystic fibrosis transmembrane conductance regulator
      Short name=CFTR
Alternative name(s):
    Channel conductance-controlling ATPase
    EC=3.6.3.49
    cAMP-dependent chloride channel
    ATP-binding cassette transporter sub-family C member 7

Gene names

Name:	CFTR
Synonyms:	ABCC7

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1480 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter.
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	Interacts with SHANK2 By similarity. Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1.
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Found on the surface of the epithelial cells that line the lungs and other organs.
Domain	The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex.
Post-translational modification	Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Ref.6 Ref.8 Ref.15 Ref.16
Involvement in disease	Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.60 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.70 Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. Ref.40 Ref.41 Ref.54 Ref.68 Ref.69
Sequence similarities	Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. [View classification] Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Transmembrane
Ligand	ATP-binding Chloride Nucleotide-binding
Molecular function	Chloride channel Hydrolase Ionic channel
PTM	Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	respiratory gaseous exchange Traceable author statement. Source: ProtInc
Cellular component	apical plasma membrane Ref.12 Inferred from direct assay. Source: UniProtKB basolateral plasma membrane Ref.10 Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Ref.1 Traceable author statement. Source: ProtInc ATP-binding and phosphorylation-dependent chloride channel activity Traceable author statement. Source: ProtInc PDZ domain binding Ref.10 Inferred from direct assay. Source: UniProtKB channel-conductance-controlling ATPase activity Ref.10 Non-traceable author statement. Source: UniProtKB chloride ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BCAP31	P51572	2	EBI-349854,EBI-77683
DERL1	Q9BUN8	1	EBI-349854,EBI-398977
GOPC	Q9HD26	1	EBI-349854,EBI-349832
LPAR2	Q9HBW0	1	EBI-349854,EBI-765995
PDZK1	Q5T2W1	1	EBI-349854,EBI-349819
RNF5	Q99942	1	EBI-349854,EBI-348482
SLC9A3R1	O14745	1	EBI-349854,EBI-349787
SLC9A3R2	Q15599	1	EBI-349854,EBI-1149760

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P13569-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P13569-2)

The sequence of this isoform differs from the canonical sequence as follows:
     404-464: Missing.

Note: Skipping of exon 9: a high number of TG repeats and a low number of T repeats at the intron 8-exon 9 junction favor exon skipping. Causes congenital bilateral absence of the vas deferens (CBAVD).

Isoform 3 (identifier: P13569-3)

The sequence of this isoform differs from the canonical sequence as follows:
     589-605: SCVCKLMANKTRILVTS → RRRCSCLLDRNKKTIF
     606-1480: Missing.

Note: Skipping of the first 248 nucleotides of exon 13, caused by mutation of the exon splicing exon (ESE) in exon 13. Causes cystic fibrosis (CF).

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1480

1480

Cystic fibrosis transmembrane conductance regulator

PRO_0000093419

Regions

Topological domain

1 – 80

80

Cytoplasmic Potential

Transmembrane

81 – 103

23

1 Potential

Topological domain

104 – 117

14

Extracellular Potential

Transmembrane

118 – 138

21

2 Potential

Topological domain

139 – 194

56

Cytoplasmic Potential

Transmembrane

195 – 215

21

3 Potential

Topological domain

216 – 220

5

Extracellular Potential

Transmembrane

221 – 241

21

4 Potential

Topological domain

242 – 307

66

Cytoplasmic Potential

Transmembrane

308 – 328

21

5 Potential

Topological domain

329 – 330

2

Extracellular Potential

Transmembrane

331 – 350

20

6 Potential

Topological domain

351 – 859

509

Cytoplasmic Potential

Transmembrane

860 – 880

21

7 Potential

Topological domain

881 – 911

31

Extracellular Potential

Transmembrane

912 – 932

21

8 Potential

Topological domain

933 – 990

58

Cytoplasmic Potential

Transmembrane

991 – 1011

21

9 Potential

Topological domain

1012 – 1013

2

Extracellular Potential

Transmembrane

1014 – 1034

21

10 Potential

Topological domain

1035 – 1102

68

Cytoplasmic Potential

Transmembrane

1103 – 1123

21

11 Potential

Topological domain

1124 – 1128

5

Extracellular Potential

Transmembrane

1129 – 1149

21

12 Potential

Topological domain

1150 – 1480

331

Cytoplasmic Potential

Domain

81 – 365

285

ABC transmembrane type-1 1

Domain

423 – 646

224

ABC transporter 1

Domain

859 – 1155

297

ABC transmembrane type-1 2

Domain

1210 – 1443

234

ABC transporter 2

Nucleotide binding

458 – 465

8

ATP 1 Potential

Nucleotide binding

1244 – 1251

8

ATP 2 Potential

Motif

1478 – 1480

3

PDZ-binding

Amino acid modifications

Modified residue

515

1

Phosphotyrosine Ref.16

Modified residue

660

1

Phosphoserine; by PKA Ref.6 Ref.8

Modified residue

686

1

Phosphoserine; by PKC Ref.6

Modified residue

700

1

Phosphoserine; by PKA Ref.6 Ref.8

Modified residue

712

1

Phosphoserine; by PKA Ref.8

Modified residue

737

1

Phosphoserine; by PKA Ref.6 Ref.8

Modified residue

753

1

Phosphoserine; by PKA Ref.8

Modified residue

768

1

Phosphoserine; by PKA Ref.6 Ref.8

Modified residue

790

1

Phosphoserine; by PKC Ref.6

Modified residue

795

1

Phosphoserine; by PKA Ref.6 Ref.8

Modified residue

813

1

Phosphoserine; by PKA Ref.6 Ref.8

Glycosylation

894

1

N-linked (GlcNAc...) Ref.7

Glycosylation

900

1

N-linked (GlcNAc...) Ref.7

Natural variations

Alternative sequence

404 – 464

61

Missing in isoform 2.

VSP_022123

Alternative sequence

589 – 605

17

SCVCK…ILVTS → RRRCSCLLDRNKKTIF in isoform 3.

VSP_022124

Alternative sequence

606 – 1480

875

Missing in isoform 3.

VSP_022125

Natural variant

13

1

S → F in CF. Ref.64

VAR_000101

Natural variant

31

1

R → C: dbSNP rs1800073. Ref.32 Ref.44

VAR_000102

Natural variant

31

1

R → L in CF. Ref.44

VAR_000103

Natural variant

42

1

S → F in CF. Ref.48

VAR_000104

Natural variant

44

1

D → G in CF.

VAR_000105

Natural variant

44

1

D → V: dbSNP rs1800074.

VAR_000106

Natural variant

50

1

S → Y in CBAVD. Ref.54

VAR_000107

Natural variant

57

1

W → G in CF. Ref.42

VAR_000108

Natural variant

67

1

P → L in CF.

VAR_000109

Natural variant

74

1

R → W in CF.

VAR_000110

Natural variant

75

1

R → Q: dbSNP rs1800076.

VAR_000111

Natural variant

85

1

G → E in CF. Ref.58

VAR_000112

Natural variant

87

1

F → L in CF. Ref.39

VAR_000113

Natural variant

91

1

G → R in CF.

VAR_000114

Natural variant

92

1

E → K in CF. Ref.26 Ref.29

VAR_000115

Natural variant

98

1

Q → R in CF. Ref.46

VAR_000116

Natural variant

105

1

I → S in CF.

VAR_000117

Natural variant

109

1

Y → C in CF. Ref.37

VAR_000118

Natural variant

110

1

D → H in CF.

VAR_000119

Natural variant

111

1

P → L in CBAVD. Ref.69

VAR_000120

Natural variant

117

1

R → C in CF. Ref.26 Ref.48 Ref.58 Ref.65

VAR_000121

Natural variant

117

1

R → H in CF and CBAVD.

VAR_000122

Natural variant

117

1

R → L in CF. Ref.26 Ref.48 Ref.58 Ref.65

VAR_000123

Natural variant

117

1

R → P in CF. Ref.26 Ref.48 Ref.58 Ref.65

VAR_000124

Natural variant

120

1

A → T in CF. Ref.38

VAR_000125

Natural variant

138

1

L → P: dbSNP rs1800078.

VAR_009895

Natural variant

139

1

H → R in CF. Ref.48

VAR_000126

Natural variant

141

1

A → D in CF. Ref.56

VAR_000127

Natural variant

148

1

I → T in CF. dbSNP rs35516286.

VAR_000128

Natural variant

149

1

G → R in CBAVD. Ref.40

VAR_000129

Natural variant

170

1

R → H: dbSNP rs1800079.

VAR_009896

Natural variant

178

1

G → R in CF.

VAR_000130

Natural variant

182

1

S → G: dbSNP rs1800080.

VAR_009897

Natural variant

192

1

Missing in CF. Ref.65

VAR_000131

Natural variant

193

1

E → K in CBAVD and CF.

VAR_000132

Natural variant

199

1

H → Q in CF. Ref.34

VAR_000133

Natural variant

199

1

H → Y in CF. Ref.34

VAR_000134

Natural variant

205

1

P → S in CF. Ref.30

VAR_000135

Natural variant

206

1

L → W in CF. Ref.43

VAR_000136

Natural variant

225

1

C → R in CF.

VAR_000137

Natural variant

244

1

M → K in CBAVD. Ref.69

VAR_000138

Natural variant

258

1

R → G in CBAVD. Ref.40

VAR_000139

Natural variant

287

1

N → Y in CF. Ref.58

VAR_000140

Natural variant

297

1

R → Q in CF.

VAR_000141

Natural variant

301

1

Y → C in CF.

VAR_000142

Natural variant

307

1

S → N in CF.

VAR_000143

Natural variant

311

1

F → L in CF. Ref.59

VAR_000144

Natural variant

311

1

Missing in CF. Ref.59

VAR_000145

Natural variant

314

1

G → E in CF. Ref.50

VAR_000146

Natural variant

314

1

G → R in CF. Ref.50

VAR_000147

Natural variant

322

1

V → M: dbSNP rs1800085.

VAR_009898

Natural variant

334

1

R → W in CF; mild.

VAR_000148

Natural variant

336

1

I → K in CF.

VAR_000150

Natural variant

338

1

T → I in CF; mild; isolated hypotonic dehydration. Ref.47 Ref.64

VAR_000151

Natural variant

346

1

L → P in CF; dominant mutation but mild phenotype. Ref.33

VAR_000152

Natural variant

347

1

R → H in CF.

VAR_000153

Natural variant

347

1

R → L in CF.

VAR_000154

Natural variant

347

1

R → P in CF; MILD.

VAR_000155

Natural variant

351

1

T → S: dbSNP rs1800086.

VAR_009899

Natural variant

352

1

R → Q in CF.

VAR_000156

Natural variant

353

1

Q → H: dbSNP rs1800087.

VAR_009900

Natural variant

359 – 360

2

QT → KK in CF.

VAR_000158

Natural variant

359

1

Q → K in CF.

VAR_000157

Natural variant

370

1

K → KNK in CF.

VAR_000159

Natural variant

455

1

A → E in CF. Ref.58

VAR_000160

Natural variant

456

1

V → F in CF.

VAR_000161

Natural variant

458

1

G → V in CF.

VAR_000162

Natural variant

467

1

L → F: dbSNP rs1800089.

VAR_000163

Natural variant

470

1

V → M: dbSNP rs213950. Ref.68 Ref.1 Ref.2 Ref.3 Ref.71

VAR_000164

Natural variant

480

1

G → C in CF.

VAR_000165

Natural variant

492

1

S → F in CF.

VAR_000166

Natural variant

504

1

E → Q in CF.

VAR_000167

Natural variant

506

1

I → M: dbSNP rs1800092.

VAR_009901

Natural variant

506

1

I → V

VAR_000168

Natural variant

507

1

I → V: dbSNP rs1800091.

VAR_000169

Natural variant

507

1

Missing in CF.

VAR_000170

Natural variant

508

1

F → C: dbSNP rs1800093.

VAR_000172

Natural variant

508

1

Missing in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane.

VAR_000171

Natural variant

513

1

D → G in CBAVD. Ref.68

VAR_000173

Natural variant

520

1

V → F in CF. Ref.23

VAR_000174

Natural variant

532

1

K → E: dbSNP rs35032490.

VAR_048150

Natural variant

544

1

G → V in CBAVD. Ref.69

VAR_000175

Natural variant

549

1

S → I in CF.

VAR_000177

Natural variant

549

1

S → N in CF.

VAR_000176

Natural variant

549

1

S → R in CF.

VAR_000178

Natural variant

551

1

G → D in CF. Ref.58

VAR_000179

Natural variant

551

1

G → S in CF. Ref.58

VAR_000180

Natural variant

553

1

R → Q in CF.

VAR_000181

Natural variant

558

1

L → S in CF.

VAR_000182

Natural variant

559

1

A → T in CF.

VAR_000183

Natural variant

560

1

R → K in CF. Ref.63

VAR_000184

Natural variant

560

1

R → S in CF. Ref.63

VAR_000185

Natural variant

560

1

R → T in CF. Ref.63

VAR_000186

Natural variant

562

1

V → I: dbSNP rs1800097. Ref.53

VAR_000187

Natural variant

562

1

V → L in CF. Ref.53

VAR_000188

Natural variant

563

1

Y → N in CF.

VAR_000189

Natural variant

569

1

Y → C in CF. Ref.51 Ref.63

VAR_000190

Natural variant

569

1

Y → D in CF. Ref.51 Ref.63

VAR_000191

Natural variant

569

1

Y → H in CF. Ref.51 Ref.63

VAR_000192

Natural variant

571

1

L → S in CF.

VAR_000193

Natural variant

572

1

D → N in CF. Ref.45

VAR_000194

Natural variant

574

1

P → H in CF.

VAR_000195

Natural variant

576

1

G → A: dbSNP rs1800098.

VAR_000196

Natural variant

579

1

D → G in CF. Ref.42 Ref.70

VAR_000197

Natural variant

601

1

I → F in CF.

VAR_000198

Natural variant

605

1

S → F: dbSNP rs766874.

VAR_048151

Natural variant

610

1

L → S in CF.

VAR_000199

Natural variant

613

1

A → T in CF.

VAR_000200

Natural variant

614

1

D → G in CF.

VAR_000201

Natural variant

618

1

I → T in CF.

VAR_000202

Natural variant

619

1

L → S in CF. Ref.34

VAR_000203

Natural variant

620

1

H → P in CF.

VAR_000204

Natural variant

620

1

H → Q in CF.

VAR_000205

Natural variant

622

1

G → D in oligospermia.

VAR_000206

Natural variant

628

1

G → R in CF.

VAR_000207

Natural variant

633

1

L → P in CF.

VAR_000208

Natural variant

648

1

D → V in CF.

VAR_000209

Natural variant

651

1

D → N in CF.

VAR_000210

Natural variant

654

1

S → G: dbSNP rs1800099.

VAR_009902

Natural variant

665

1

T → S in CF. Ref.49

VAR_000211

Natural variant

668

1

R → C: dbSNP rs1800100.

VAR_000212

Natural variant

693

1

F → L: dbSNP rs1800101.

VAR_000213

Natural variant

754

1

V → M in CF.

VAR_000214

Natural variant

766

1

R → M in CBAVD.

VAR_000215

Natural variant

792

1

R → G in CBAVD.

VAR_000216

Natural variant

800

1

A → G in CBAVD. Ref.40

VAR_000217

Natural variant

807

1

I → M in CBAVD. dbSNP rs1800103.

VAR_000218

Natural variant

822

1

E → K in CF.

VAR_000219

Natural variant

826

1

E → K in thoracic sarcoidosis.

VAR_000220

Natural variant

866

1

C → Y in CF.

VAR_000221

Natural variant

903

1

Y → H: dbSNP rs1800106.

VAR_009903

Natural variant

909

1

S → I: dbSNP rs1800107.

VAR_009904

Natural variant

912

1

S → L Ref.32

VAR_000222

Natural variant

913

1

Y → C in CF.

VAR_000223

Natural variant

917

1

Y → C in CF.

VAR_000224

Natural variant

949

1

H → Y in CF. Ref.32

VAR_000225

Natural variant

952

1

M → I in CF.

VAR_000226

Natural variant

967

1

L → S: dbSNP rs1800110.

VAR_009905

Natural variant

997

1

L → F in CF. dbSNP rs1800111.

VAR_000227

Natural variant

1005

1

I → R in CF. Ref.34

VAR_000228

Natural variant

1006

1

A → E in CF. Ref.48

VAR_000229

Natural variant

1013

1

P → L in CF. Ref.60

VAR_000230

Natural variant

1028

1

M → I in CF. Ref.60

VAR_000231

Natural variant

1052

1

F → V in CF. Ref.28

VAR_000232

Natural variant

1061

1

G → R in CF. Ref.28 Ref.52

VAR_000233

Natural variant

1065

1

L → P in CF. Ref.32 Ref.66

VAR_000234

Natural variant

1065

1

L → R in CF. Ref.32 Ref.66

VAR_000235

Natural variant

1066

1

R → C in CF. Ref.28 Ref.57

VAR_000236

Natural variant

1066

1

R → H in CF. Ref.28 Ref.57

VAR_000237

Natural variant

1066

1

R → L in CF. Ref.28 Ref.57

VAR_000238

Natural variant

1067

1

A → T in CF.

VAR_000239

Natural variant

1067

1

A → V: dbSNP rs1800114.

VAR_000240

Natural variant

1070

1

R → P in CF. Ref.28 Ref.58

VAR_000242

Natural variant

1070

1

R → Q in CF. Ref.28 Ref.58

VAR_000241

Natural variant

1070

1

R → W in CBAVD.

VAR_011564

Natural variant

1071

1

Q → P in CF. Ref.32

VAR_000243

Natural variant

1072

1

P → L in CF.

VAR_000244

Natural variant

1077

1

L → P in CF.

VAR_000245

Natural variant

1085

1

H → R in CF. Ref.28

VAR_000246

Natural variant

1098

1

W → R in CF. Ref.44

VAR_000247

Natural variant

1101

1

M → K in CF. Ref.27 Ref.28

VAR_000248

Natural variant

1101

1

M → R in CF. Ref.27 Ref.28

VAR_011565

Natural variant

1137

1

M → V in CF.

VAR_000249

Natural variant

1140

1

Missing in CF. Ref.55

VAR_000250

Natural variant

1152

1

D → H in CF.

VAR_000251

Natural variant

1162

1

R → L: dbSNP rs1800120.

VAR_000252

Natural variant

1220

1

T → I: dbSNP rs1800123. Ref.32

VAR_000253

Natural variant

1234

1

I → V in CF.

VAR_000254

Natural variant

1235

1

S → R in CF.

VAR_000255

Natural variant

1244

1

G → E in CF.

VAR_000256

Natural variant

1249

1

G → E in CF. Ref.35

VAR_000257

Natural variant

1251

1

S → N in CF.

VAR_000258

Natural variant

1255

1

S → P in CF. Ref.25

VAR_000259

Natural variant

1270

1

D → N in CF. dbSNP rs11971167.

VAR_000260

Natural variant

1282

1

W → R in CF.

VAR_000261

Natural variant

1283

1

R → M in CF. Ref.24

VAR_000262

Natural variant

1286

1

F → S in CF.

VAR_000263

Natural variant

1291

1

Q → H in CF. Ref.23 Ref.34

VAR_000264

Natural variant

1291

1

Q → R in CF. Ref.23 Ref.34

VAR_000265

Natural variant

1303

1

N → H in CF. Ref.58

VAR_000266

Natural variant

1303

1

N → K in CF. Ref.58

VAR_000267

Natural variant

1349

1

G → D in CF.

VAR_000268

Natural variant

1364

1

A → V in CBAVD. Ref.69

VAR_000269

Natural variant

1397

1

V → E in CF. Ref.36

VAR_000270

Natural variant

1453

1

R → W: dbSNP rs4148725. Ref.3

VAR_048152

Experimental info

Sequence conflict

620

1

H → N Ref.1

Sequence conflict

833

1

F → L Ref.1

Secondary structure

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1480

Helix Strand Turn

Details...

Beta strand

392 – 399

8

Helix

403 – 409

7

Helix

433 – 436

4

Beta strand

440 – 448

9

Beta strand

453 – 457

5

Helix

464 – 471

8

Beta strand

477 – 483

7

Beta strand

488 – 491

4

Beta strand

499 – 501

3

Helix

502 – 507

6

Helix

514 – 523

10

Helix

527 – 531

5

Helix

536 – 538

3

Helix

550 – 563

14

Beta strand

567 – 573

7

Turn

574 – 577

4

Helix

580 – 589

10

Helix

590 – 594

5

Turn

595 – 597

3

Beta strand

598 – 603

6

Helix

607 – 612

6

Beta strand

614 – 620

7

Beta strand

623 – 628

6

Helix

630 – 636

7

Helix

640 – 643

4

Turn

644 – 647

4

Helix

655 – 670

16

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 15, 2007. Version 3. Checksum: 8D082AA2E768C065	FASTA	1,480	168,142
	10 20 30 40 50 60 MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 70 80 90 100 110 120 LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 130 140 150 160 170 180 IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 190 200 210 220 230 240 VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 250 260 270 280 290 300 GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 310 320 330 340 350 360 YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 370 380 390 400 410 420 WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK 430 440 450 460 470 480 TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 490 500 510 520 530 540 KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV 550 560 570 580 590 600 LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 610 620 630 640 650 660 ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS 670 680 690 700 710 720 ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ 730 740 750 760 770 780 MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG 790 800 810 820 830 840 QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI 850 860 870 880 890 900 PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 910 920 930 940 950 960 NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP 970 980 990 1000 1010 1020 MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV 1030 1040 1050 1060 1070 1080 PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK 1090 1100 1110 1120 1130 1140 ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM 1150 1160 1170 1180 1190 1200 STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK 1210 1220 1230 1240 1250 1260 DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL 1270 1280 1290 1300 1310 1320 LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD 1330 1340 1350 1360 1370 1380 EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT 1390 1400 1410 1420 1430 1440 YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA 1450 1460 1470 1480 ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL
	Isoform 2. Checksum: 898B37C8C61CC24A	FASTA	1,419	161,596
	10 20 30 40 50 60 MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 70 80 90 100 110 120 LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 130 140 150 160 170 180 IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 190 200 210 220 230 240 VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 250 260 270 280 290 300 GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 310 320 330 340 350 360 YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 370 380 390 400 410 420 WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEETSLLMVI MGELEPSEGK 430 440 450 460 470 480 IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL 490 500 510 520 530 540 GEGGITLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI 550 560 570 580 590 600 LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLQPDFS SKLMGCDSFD QFSAERRNSI 610 620 630 640 650 660 LTETLHRFSL EGDAPVSWTE TKKQSFKQTG EFGEKRKNSI LNPINSIRKF SIVQKTPLQM 670 680 690 700 710 720 NGIEEDSDEP LERRLSLVPD SEQGEAILPR ISVISTGPTL QARRRQSVLN LMTHSVNQGQ 730 740 750 760 770 780 NIHRKTTAST RKVSLAPQAN LTELDIYSRR LSQETGLEIS EEINEEDLKE CFFDDMESIP 790 800 810 820 830 840 AVTTWNTYLR YITVHKSLIF VLIWCLVIFL AEVAASLVVL WLLGNTPLQD KGNSTHSRNN 850 860 870 880 890 900 SYAVIITSTS SYYVFYIYVG VADTLLAMGF FRGLPLVHTL ITVSKILHHK MLHSVLQAPM 910 920 930 940 950 960 STLNTLKAGG ILNRFSKDIA ILDDLLPLTI FDFIQLLLIV IGAIAVVAVL QPYIFVATVP 970 980 990 1000 1010 1020 VIVAFIMLRA YFLQTSQQLK QLESEGRSPI FTHLVTSLKG LWTLRAFGRQ PYFETLFHKA 1030 1040 1050 1060 1070 1080 LNLHTANWFL YLSTLRWFQM RIEMIFVIFF IAVTFISILT TGEGEGRVGI ILTLAMNIMS 1090 1100 1110 1120 1130 1140 TLQWAVNSSI DVDSLMRSVS RVFKFIDMPT EGKPTKSTKP YKNGQLSKVM IIENSHVKKD 1150 1160 1170 1180 1190 1200 DIWPSGGQMT VKDLTAKYTE GGNAILENIS FSISPGQRVG LLGRTGSGKS TLLSAFLRLL 1210 1220 1230 1240 1250 1260 NTEGEIQIDG VSWDSITLQQ WRKAFGVIPQ KVFIFSGTFR KNLDPYEQWS DQEIWKVADE 1270 1280 1290 1300 1310 1320 VGLRSVIEQF PGKLDFVLVD GGCVLSHGHK QLMCLARSVL SKAKILLLDE PSAHLDPVTY 1330 1340 1350 1360 1370 1380 QIIRRTLKQA FADCTVILCE HRIEAMLECQ QFLVIEENKV RQYDSIQKLL NERSLFRQAI 1390 1400 1410 SPSDRVKLFP HRNSSKCKSK PQIAALKEET EEEVQDTRL
	Isoform 3. Checksum: 6059582EE8505353	FASTA	604	69,230
	10 20 30 40 50 60 MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 70 80 90 100 110 120 LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 130 140 150 160 170 180 IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 190 200 210 220 230 240 VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 250 260 270 280 290 300 GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 310 320 330 340 350 360 YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 370 380 390 400 410 420 WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK 430 440 450 460 470 480 TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 490 500 510 520 530 540 KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV 550 560 570 580 590 600 LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFERR RCSCLLDRNK KTIF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA." Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J.-L., Drumm M.L., Iannuzzi M.C., Collins F.S., Tsui L.-C. Science 245:1066-1073(1989) [PubMed: 2475911] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-470.
[2]	"Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Zielenski J., Rozmahel R., Bozon D., Kerem B., Grzelczak Z., Riordan J.R., Rommens J., Tsui L.-C. Genomics 10:214-228(1991) [PubMed: 1710598] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-470.
[3]	Stacy R., Subramanian S., Deodato C., Burkhardt P., Song Y., Paddock M., Chang J., Zhou Y., Haugen E., Waring D., Chapman P., Hayden H., Levy R., Wu Z., Rouse G., James R., Phelps K., Olson M.V., Kaul R. Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-470 AND TRP-1453.
[4]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Phosphorylation of the cystic fibrosis transmembrane conductance regulator." Picciotto M.R., Cohn J.A., Bertuzzi G., Greenguard P., Nairn A.C. J. Biol. Chem. 267:12742-12752(1992) [PubMed: 1377674] [Abstract] Cited for: PHOSPHORYLATION AT SER-660; SER-686; SER-700; SER-737; SER-768; SER-790; SER-795 AND SER-813.
[7]	"Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion." Chang X.-B., Hou Y.-X., Jensen T.J., Riordan J.R. J. Biol. Chem. 269:18572-18575(1994) [PubMed: 7518437] [Abstract] Cited for: GLYCOSYLATION AT ASN-894 AND ASN-900, TOPOLOGY.
[8]	"Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry." Neville D.C.A., Rozanas C.R., Rice E.M., Gruis D.B., Verkman A.S., Townsend R.R. Protein Sci. 6:2436-2445(1997) [PubMed: 9385646] [Abstract] Cited for: PHOSPHORYLATION AT SER-660; SER-700; SER-712; SER-737; SER-753; SER-768; SER-795 AND SER-813.
[9]	"Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element." Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M., Giglio L., Faraguna D., Baralle F.E. J. Biol. Chem. 275:21041-21047(2000) [PubMed: 10766763] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 2).
[10]	"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression." Cheng J., Moyer B.D., Milewski M., Loffing J., Ikeda M., Mickle J.E., Cutting G.R., Li M., Stanton B.A., Guggino W.B. J. Biol. Chem. 277:3520-3529(2002) [PubMed: 11707463] [Abstract] Cited for: INTERACTION WITH GOPC.
[11]	"The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3." Park M., Ko S.B.H., Choi J.Y., Muallem G., Thomas P.J., Pushkin A., Lee M.-S., Kim J.Y., Lee M.G., Muallem S., Kurtz I. J. Biol. Chem. 277:50503-50509(2002) [PubMed: 12403779] [Abstract] Cited for: INTERACTION WITH SC4A7 AND SLC9A3R1.
[12]	"Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator." Swiatecka-Urban A., Boyd C., Coutermarsh B., Karlson K.H., Barnaby R., Aschenbrenner L., Langford G.M., Hasson T., Stanton B.A. J. Biol. Chem. 279:38025-38031(2004) [PubMed: 15247260] [Abstract] Cited for: INTERACTION WITH MYO6.
[13]	"Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis." McIntosh I., Cutting G.R. FASEB J. 6:2775-2782(1992) [PubMed: 1378801] [Abstract] Cited for: REVIEW.
[14]	"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." Aznarez I., Chan E.M., Zielenski J., Blencowe B.J., Tsui L.-C. Hum. Mol. Genet. 12:2031-2040(2003) [PubMed: 12913074] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 3).
[15]	"Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA." Chappe V., Hinkson D.A., Zhu T., Chang X.B., Riordan J.R., Hanrahan J.W. J. Physiol. (Lond.) 548:39-52(2003) [PubMed: 12588899] [Abstract] Cited for: CHANNEL GATING REGULATION, PHOSPHORYLATION.
[16]	"Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling." Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z. EMBO J. 25:5058-5070(2006) [PubMed: 17053785] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-515, MASS SPECTROMETRY.
[17]	"A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase." Hoedemaeker F.J., Davidson A.R., Rose D.R. Proteins 30:275-286(1998) [PubMed: 9517543] [Abstract] Cited for: 3D-STRUCTURE MODELING OF 425-638.
[18]	"Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator." Karthikeyan S., Leung T., Ladias J.A.A. J. Biol. Chem. 276:19683-19686(2001) [PubMed: 11304524] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 1476-1480 IN COMPLEX WITH SLC9A3R1.
[19]	"Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium." Tsui L.-C. Hum. Mutat. 1:197-203(1992) [PubMed: 1284534] [Abstract] Cited for: REVIEW ON VARIANTS.
[20]	"A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein." Cutting G.R., Kasch L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr. Nature 346:366-369(1990) [PubMed: 1695717] [Abstract] Cited for: VARIANTS CF.
[21]	"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene." Kerem B.-S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., Kennedy D., Riordan J.R., Collins F.S., Rommens J.M., Tsui L.-C. Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990) [PubMed: 2236053] [Abstract] Cited for: VARIANTS CF.
[22]	"Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)." White M.B., Krueger L.J., Holsclaw D.S. Jr., Gerrard B.C., Stewart C., Quittell L., Dolganov G., Baranov V., Ivaschenko T., Kapronov N.I., Sebastio G., Castiglione O., Dean M. Genomics 10:266-269(1991) [PubMed: 1710600] [Abstract] Cited for: VARIANTS CF.
[23]	"Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation." Jones C.T., McIntosh I., Keston M., Ferguson A., Brock D.J.H. Hum. Mol. Genet. 1:11-17(1992) [PubMed: 1284466] [Abstract] Cited for: VARIANTS CF PHE-520 AND HIS-1291.
[24]	"A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene." Cheadle J.P., Meredith A.L., Al-Jader L.N. Hum. Mol. Genet. 1:123-125(1992) [PubMed: 1284468] [Abstract] Cited for: VARIANT CF MET-1283.
[25]	"A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene." Lissens W., Bonduelle M., Malfroot A., Dab I., Liebaers I. Hum. Mol. Genet. 1:441-442(1992) [PubMed: 1284530] [Abstract] Cited for: VARIANT CF PRO-1255.
[26]	"Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP." Shackleton S., Beards F., Harris A. Hum. Mol. Genet. 1:439-440(1992) [PubMed: 1284529] [Abstract] Cited for: VARIANTS CF LYS-92 AND CYS-117.
[27]	"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." Zielenski J., Fugiwara T.M., Markiewicz D., Paradis A.J., Anacleto A.I., Richards B., Schwartz R.H., Klinger K.W., Tsui L.-C., Morgan K. Am. J. Hum. Genet. 52:609-615(1993) [PubMed: 7680525] [Abstract] Cited for: VARIANT CF LYS-1101.
[28]	"Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene." Mercier B., Lissens W., Novelli G., Kalaydjieva L., De Arce M., Kapranov N., Klain N.C., Lenoir G., Chauveau P., Lenaerts C., Rault G., Cashman S., Sangiuolo F., Audrezet M.-P., Dallapiccola B., Guillermit H., Bonduelle M., Liebaers I. , Quere I., Verlingue C., Ferec C. Genomics 16:296-297(1993) [PubMed: 7683628] [Abstract] Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101.
[29]	"A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype." Nunes V., Chillon M., Doerk T., Tuemmler B., Casals T., Estivill X. Hum. Mol. Genet. 2:79-80(1993) [PubMed: 7683954] [Abstract] Cited for: VARIANT CF LYS-92.
[30]	"Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype." Chillon M., Casals T., Nunes V., Gimenez J., Ruiz E.P., Estivill X. Hum. Mol. Genet. 2:1741-1742(1993) [PubMed: 7505694] [Abstract] Cited for: VARIANT CF SER-205.
[31]	"Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes." Gasparini P., Marigo C., Bisceglia G., Nicolis E., Zelante L., Bombieri C., Borgo G., Pignatti P.F., Cabrini G. Hum. Mutat. 2:389-394(1993) [PubMed: 7504969] [Abstract] Cited for: VARIANTS CF.
[32]	"Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Ghaneb N., Costes B., Girodon E., Martin J., Fanen P., Goossens M. Genomics 21:434-436(1994) [PubMed: 7522211] [Abstract] Cited for: VARIANTS CYS-31 AND ILE-1220, VARIANTS CF LEU-912; TYR-949; PRO-1065 AND PRO-1071.
[33]	"Novel cystic fibrosis mutation associated with mild disease in Cypriot patients." Boteva K., Papageorgiou E., Georgiou C., Angastiniotis M., Middleton L.T., Constantinou-Deltas C.D. Hum. Genet. 93:529-532(1994) [PubMed: 7513296] [Abstract] Cited for: VARIANT CF PRO-346.
[34]	"Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients." Doerk T., Mekus F., Schmidt K., Bosshammer J., Fislage R., Heuer T., Dziadek V., Neumann T., Kaelin N., Wulbrand U., Wulf B., von der Hardt H., Maass G., Tuemmler B. Hum. Genet. 94:533-542(1994) [PubMed: 7525450] [Abstract] Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291.
[35]	"A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Greil I., Wagner K., Rosenkranz W. Hum. Hered. 44:238-240(1994) [PubMed: 7520022] [Abstract] Cited for: VARIANT CF GLU-1249.
[36]	"Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin." Petreska L., Koceva S., Gordova-Muratovska A., Nestorov R., Efremov G.D. Hum. Mol. Genet. 3:999-1000(1994) [PubMed: 7524913] [Abstract] Cited for: VARIANT CF GLU-1397.
[37]	"A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR." Schaedel C., Kristoffersson A.-C., Kornfaelt R., Holmberg L. Hum. Mol. Genet. 3:1001-1002(1994) [PubMed: 7524909] [Abstract] Cited for: VARIANT CF CYS-109.
[38]	"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)." Chillon M., Casals T., Gimenez J., Nunes V., Estivill X. Hum. Mutat. 3:223-230(1994) [PubMed: 7517264] [Abstract] Cited for: VARIANT CF THR-120.
[39]	"A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene." Bienvenu T., Petitpretz P., Beldjord C., Kaplan J.C. Hum. Mutat. 3:395-396(1994) [PubMed: 8081395] [Abstract] Cited for: VARIANT CF LEU-87.
[40]	"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients." Mercier B., Verlingue C., Lissens W., Silber S.J., Novelli G., Bonduelle M., Audrezet M.-P., Ferec C. Am. J. Hum. Genet. 56:272-277(1995) [PubMed: 7529962] [Abstract] Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800.
[41]	"Structural analysis of CFTR gene in congenital bilateral absence of vas deferens." Jezequel P., Dorval I., Fergelot P., Chauvel B., Le Treut A., Le Gall J.-Y., Le Lannou D., Blayau M. Clin. Chem. 41:833-835(1995) [PubMed: 7539342] [Abstract] Cited for: VARIANTS CBAVD.
[42]	"Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations." Brancolini V., Cremonesi L., Belloni E., Pappalardo E., Bordoni R., Seia M., Russo S., Padoan R., Giunta A., Ferrari M. Hum. Genet. 96:312-318(1995) [PubMed: 7544319] [Abstract] Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579.
[43]	"Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype." Desgeorges M., Rodier M., Piot M., Demaille J., Claustres M. Hum. Genet. 96:717-720(1995) [PubMed: 8522333] [Abstract] Cited for: VARIANT CF TRP-206.
[44]	"Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Zielenski J., Markiewicz D., Chen H.S., Schappert K.T., Seller A., Durie P., Corey M., Tsui L.-C. Hum. Mutat. 5:43-47(1995) [PubMed: 7537150] [Abstract] Cited for: VARIANTS CF LEU-31 AND ARG-1098.
[45]	"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." Verlingue C., Kapranov N.I., Mercier B., Ginter E.K., Petrova N.V., Audrezet M.P., Ferec C. Hum. Mutat. 5:205-209(1995) [PubMed: 7541273] [Abstract] Cited for: VARIANT CF ASN-572.
[46]	"Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult." Romey M.-C., Desgeorges M., Ray P., Godard P., Demaille J., Claustres M. Hum. Mutat. 6:190-191(1995) [PubMed: 7581407] [Abstract] Cited for: VARIANT CF ARG-98.
[47]	"A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration." Leoni G.B., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L., Cao A., Rosatelli M.C. J. Pediatr. 127:281-283(1995) [PubMed: 7543567] [Abstract] Cited for: VARIANT CF ILE-338.
[48]	"Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients." Ferec C., Novelli G., Verlingue C., Quere I., Dallapiccola B., Audrezet M.P., Mercier B. Mol. Cell. Probes 9:135-137(1995) [PubMed: 7541510] [Abstract] Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006.
[49]	"Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations." Messaoud T., Verlingue C., Denamur E., Pascaud O., Quere I., Fattoum S., Elion J., Ferec C. Eur. J. Hum. Genet. 4:20-24(1996) [PubMed: 8800923] [Abstract] Cited for: VARIANT CF SER-665.
[50]	"Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure." Nasr S.Z., Strong T.V., Mansoura M.K., Dawson D.C., Collins F.S. Hum. Mutat. 7:151-154(1996) [PubMed: 8829633] [Abstract] Cited for: VARIANT CF ARG-314.
[51]	"A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin." Petreska L., Plaseska D., Koseva S., Stavljenic-Rukavina A., Efremov G.D. Hum. Mutat. 7:374-375(1996) [PubMed: 8723693] [Abstract] Cited for: VARIANT CF CYS-569.
[52]	"Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients." Bienvenu T., Chertkoff L., Beldjord C., Segal E., Carniglia L., Barreiro C., Kaplan J.-C. Hum. Mutat. 7:376-377(1996) [PubMed: 8723695] [Abstract] Cited for: VARIANT CF ARG-1061.
[53]	"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes." Hughes D.J., Hill A.J.M., Macek M. Jr., Redmond A.O., Nevin N.C., Graham C.A. Hum. Mutat. 8:340-347(1996) [PubMed: 8956039] [Abstract] Cited for: VARIANT CF LEU-562.
[54]	"Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)." Zielenski J., Patrizio P., Markiewicz D., Asch R.H., Tsui L.-C. Hum. Mutat. 9:183-184(1997) [PubMed: 9067761] [Abstract] Cited for: VARIANT CBAVD TYR-50.
[55]	"Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140." Clavel C., Pennaforte F., Pigeon F., Verlingue C., Birembaut P., Ferec C. Hum. Mutat. 9:368-369(1997) [PubMed: 9101301] [Abstract] Cited for: VARIANT CF MET-1140 DEL.
[56]	"Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient." Gouya L., Pascaud O., Munck A., Elion J., Denamur E. Hum. Mutat. 10:86-87(1997) [PubMed: 9222768] [Abstract] Cited for: VARIANT CF ASP-141.
[57]	"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients." Casals T., Pacheco P., Barreto C., Gimenez J., Ramos M.D., Pereira S., Pinheiro J.A., Cobos N., Curvelo A., Vazquez C., Rocha H., Seculi J.L., Perez E., Dapena J., Carrilho E., Duarte A., Palacio A.M., Nunes V., Lavinha J., Estivill X. Hum. Mutat. 10:387-392(1997) [PubMed: 9375855] [Abstract] Cited for: VARIANT CF CYS-1066.
[58]	"Cystic fibrosis mutation frequencies in upstate New York." Shrimpton A.E., Borowitz D., Swender P. Hum. Mutat. 10:436-442(1997) [PubMed: 9401006] [Abstract] Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303.
[59]	"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans." Friedman K.J., Leigh M.W., Czarnecki P., Feldman G.L. Am. J. Hum. Genet. 62:195-196(1998) [PubMed: 9443874] [Abstract] Cited for: VARIANT CF PHE-311 DEL.
[60]	"Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)." Onay T., Topaloglu O., Zielenski J., Gokgoz N., Kayserili H., Camcioglu Y., Cokugras H., Akcakaya N., Apak M., Tsui L.-C., Kirdar B. Hum. Genet. 102:224-230(1998) [PubMed: 9521595] [Abstract] Cited for: VARIANTS CF LEU-1013 AND ILE-1028.
[61]	"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease." Bombieri C., Benetazzo M., Saccomani A., Belpinati F., Gile L.S., Luisetti M., Pignatti P.F. Hum. Genet. 103:718-722(1998) [PubMed: 9921909] [Abstract] Cited for: VARIANTS CF.
[62]	"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator." Vankeerberghen A., Wei L., Jaspers M., Cassiman J.-J., Nilius B., Cuppens H. Hum. Mol. Genet. 7:1761-1769(1998) [PubMed: 9736778] [Abstract] Cited for: VARIANTS CF.
[63]	"Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)." Malone G., Haworth A., Schwarz M.J., Cuppens H., Super M. Hum. Mutat. 11:152-157(1998) [PubMed: 9482579] [Abstract] Cited for: VARIANTS CF SER-560 AND ASP-569.
[64]	"Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin." Leoni G.B., Pitzalis S., Tonelli R., Cao A. Hum. Mutat. 11:337-337(1998) [PubMed: 9554753] [Abstract] Cited for: VARIANTS CF PHE-13 AND ILE-338.
[65]	"Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients." Feldmann D., Sardet A., Cougoureux E., Plouvier E., Fontaine J.-L., Tournier G., Aymard P. Hum. Mutat. Suppl. 1:S78-S80(1998) [PubMed: 9452048] [Abstract] Cited for: VARIANTS CF PRO-117 AND ASP-192 DEL.
[66]	"Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis." Casals T., Ramos M.D., Gimenez J., Nadal M., Nunes V., Estivill X. Hum. Mutat. Suppl. 1:S99-S102(1998) [PubMed: 9452054] [Abstract] Cited for: VARIANT CF ARG-1065.
[67]	"A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene." Shackleton S., Harris A. Hum. Mutat. Suppl. 1:S156-S157(1998) [PubMed: 9452073] [Abstract] Cited for: VARIANT CF ASN-LYS-370 INS.
[68]	"A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient." Bienvenu T., Bousquet S., Vidaud D., Hubert D., Francoual C., Beldjord C., Kaplan J.-C. Hum. Mutat. 12:213-214(1998) [PubMed: 10651488] [Abstract] Cited for: VARIANT CBAVD GLY-513, VARIANT MET-470.
[69]	"Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations." de Meeus A., Guittard C., Desgeorges M., Carles S., Demaille J., Claustres M. Hum. Mutat. 12:480-480(1998) Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364.
[70]	"Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement." Picci L., Cameran M., Olante P., Zacchello F., Scarpa M. Hum. Mutat. 13:173-173(1999) [PubMed: 10094564] [Abstract] Cited for: VARIANT CF GLY-579.
[71]	"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome." Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K. Nature 456:66-72(2008) [PubMed: 18987736] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-470.
+	Additional computationally mapped references.

Web resources

CFTR

Cystic fibrosis mutation db

GeneReviews

Wikipedia

CFTR entry

Cross-references

Sequence databases

EMBLGenBankDDBJ

M28668 mRNA. Translation: AAA35680.1.
M55131 , M55106, M55107, M55108, M55110, M55111, M55112, M55113, M55114, M55115, M55116, M55117, M55118, M55119, M55120, M55121, M55122, M55123, M55124, M55125, M55126, M55127, M55128, M55129, M55130 Genomic DNA. Translation: AAC13657.1.
DQ354388 Genomic DNA. Translation: ABC79050.1.
DQ354389 Genomic DNA. Translation: ABC79052.1.
DQ354390 Genomic DNA. Translation: ABC79054.1.
DQ354391 Genomic DNA. Translation: ABC79056.1.
DQ356258 Genomic DNA. Translation: ABC87055.1.
DQ356259 Genomic DNA. Translation: ABC87057.1.
DQ356261 Genomic DNA. Translation: ABC87061.1.
DQ356262 Genomic DNA. Translation: ABC87063.1.
DQ356263 Genomic DNA. Translation: ABC87065.1.
DQ356264 Genomic DNA. Translation: ABC87067.1.
DQ388128 Genomic DNA. Translation: ABD72183.1.
DQ388129 Genomic DNA. Translation: ABD72185.1.
DQ388131 Genomic DNA. Translation: ABD72189.1.
DQ388132 Genomic DNA. Translation: ABD72191.1.
DQ388133 Genomic DNA. Translation: ABD72193.1.
DQ388134 Genomic DNA. Translation: ABD72195.1.
DQ388135 Genomic DNA. Translation: ABD72197.1.
DQ388138 Genomic DNA. Translation: ABD72203.1.
DQ388139 Genomic DNA. Translation: ABD72205.1.
DQ388140 Genomic DNA. Translation: ABD72207.1.
DQ388141 Genomic DNA. Translation: ABD72209.1.
DQ388142 Genomic DNA. Translation: ABD72211.1.
DQ388143 Genomic DNA. Translation: ABD72213.1.
DQ388145 Genomic DNA. Translation: ABD72217.1.
AC000061 Genomic DNA. No translation available.
AC000111 Genomic DNA. No translation available.
CH236947 Genomic DNA. Translation: EAL24353.1.
M65196 Genomic DNA. Translation: AAA51979.1.
M65197 Genomic DNA. Translation: AAA51980.1.

IPI

IPI00815998.
IPI00816721.
IPI00816790.

PIR

DVHUCF. A39069.

RefSeq

NP_000483.3.

UniGene

Hs.489786
Hs.621460
Hs.661104

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1NBD	model	-	A	425-638	[»]
1XMI	X-ray	2.25	A/B/C/D/E	389-678	[»]
1XMJ	X-ray	2.30	A	389-677	[»]
2BBO	X-ray	2.55	A	389-678	[»]
2BBS	X-ray	2.05	A/B	389-678	[»]
2BBT	X-ray	2.30	A/B	389-678	[»]
2PZE	X-ray	1.70	A/B	387-646	[»]
2PZF	X-ray	2.00	A/B	387-646	[»]
2PZG	X-ray	1.80	A/B	375-646	[»]

DisProt

DP00012.

ModBase

Search...

Protein-protein interaction databases

IntAct

P13569. 122 interactions.

Protein family/group databases

TCDB

3.A.1.202.1. ATP-binding cassette (ABC) superfamily.

PTM databases

PhosphoSite

P13569.

Proteomic databases

PRIDE

P13569.

Genome annotation databases

Ensembl

ENSG00000001626. Homo sapiens. [Contig view]

GeneID

1080.

KEGG

hsa:1080.

NMPDR

fig|9606.3.peg.29332.

UCSC

uc003vjd.1. human.

Organism-specific databases

GeneCards

GC07P116907.

H-InvDB

HIX0033689.
HIX0060029.

HGNC

HGNC:1884. CFTR.

HPA

CAB001951.

MIM

219700. phenotype.
277180. phenotype.
602421. gene.

Orphanet

586. Cystic fibrosis.
676. Pancreatitis, hereditary.
48. Vas deferens, bilateral aplasia of, congenital.

PharmGKB

PA109.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P13569.

HOVERGEN

P13569.

OMA

P13569. WRKAFGV.

Enzyme and pathway databases

BRENDA

3.6.3.49. 247.

Reactome

REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpress

P13569.

Bgee

P13569.

CleanEx

HS_CFTR.

Family and domain databases

InterPro

IPR001140. ABC_TM_transpt.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR017940. ABC_transporter_type1.
IPR003593. ATPase_AAA+_core.
IPR005291. cAMP_cl_channel.
IPR009147. CysFib_conduc_TM.
[Graphical view]

PANTHER

PTHR19242:SF8. cAMP_cl_channel. 1 hit.

Pfam

PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]

PRINTS

PR01851. CYSFIBREGLTR.

ProDom

PD000006. ABC_transporter. 2 hits.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00382. AAA. 2 hits.
[Graphical view]

TIGRFAMs

TIGR01271. CFTR_protein. 1 hit.

PROSITE

PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

ProtoNet

Search...

Other Resources

DrugBank

DB00887. Bumetanide.
DB01016. Glibenclamide.

NextBio

4500.

SOURCE

Search...

Entry information

Entry name

CFTR_HUMAN

Accession

Primary (citable) accession number: P13569
Secondary accession number(s): Q20BG8 , Q20BH2, Q2I0A1, Q2I102

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	May 15, 2007
Last modified:	July 7, 2009
This is version 139 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)