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Protein

Cystic fibrosis transmembrane conductance regulator

Gene

CFTR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO3-; selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).1 Publication26 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei401ATP 1Combined sources2 Publications1
Binding sitei434ATP 1Combined sources1 Publication1
Binding sitei493ATP 1Combined sources1 Publication1
Binding sitei1219ATP 2Combined sources1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi458 – 465ATP 1PROSITE-ProRule annotationCombined sources1 Publication8
Nucleotide bindingi1244 – 1251ATP 2PROSITE-ProRule annotationCombined sources8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChloride channel, Hydrolase, Ion channel
Biological processIon transport, Transport
LigandATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00075-MONOMER
BRENDAi3.6.3.49 2681
ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5627083 RHO GTPases regulate CFTR trafficking
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-5689880 Ub-specific processing proteases
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiP13569

Protein family/group databases

MoonProtiP13569
TCDBi3.A.1.202.1 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Cystic fibrosis transmembrane conductance regulator
Short name:
CFTR
Alternative name(s):
ATP-binding cassette sub-family C member 7
Channel conductance-controlling ATPase (EC:3.6.3.494 Publications)
cAMP-dependent chloride channel
Gene namesi
Name:CFTR
Synonyms:ABCC7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000001626.14
HGNCiHGNC:1884 CFTR
MIMi602421 gene
neXtProtiNX_P13569

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 77CytoplasmicCuratedAdd BLAST77
Transmembranei78 – 98Helical; Name=11 PublicationAdd BLAST21
Topological domaini99 – 122Extracellular1 PublicationAdd BLAST24
Transmembranei123 – 146Helical; Name=21 PublicationAdd BLAST24
Topological domaini147 – 195Cytoplasmic1 PublicationAdd BLAST49
Transmembranei196 – 216Helical; Name=31 PublicationAdd BLAST21
Topological domaini217 – 222Extracellular1 Publication6
Transmembranei223 – 243Helical; Name=41 PublicationAdd BLAST21
Topological domaini244 – 298Cytoplasmic1 PublicationAdd BLAST55
Transmembranei299 – 319Helical; Name=51 PublicationAdd BLAST21
Topological domaini320 – 339Extracellular1 PublicationAdd BLAST20
Transmembranei340 – 358Helical; Name=61 PublicationAdd BLAST19
Topological domaini359 – 858Cytoplasmic1 PublicationAdd BLAST500
Transmembranei859 – 879Helical; Name=71 PublicationAdd BLAST21
Topological domaini880 – 918Extracellular1 PublicationAdd BLAST39
Transmembranei919 – 939Discontinuously helical; Name=81 PublicationAdd BLAST21
Topological domaini940 – 990Cytoplasmic1 PublicationAdd BLAST51
Transmembranei991 – 1011Helical; Name=91 PublicationAdd BLAST21
Topological domaini1012 – 1013Extracellular1 Publication2
Transmembranei1014 – 1034Helical; Name=101 PublicationAdd BLAST21
Topological domaini1035 – 1095Cytoplasmic1 PublicationAdd BLAST61
Transmembranei1096 – 1116Helical; Name=111 PublicationAdd BLAST21
Topological domaini1117 – 1130Extracellular1 PublicationAdd BLAST14
Transmembranei1131 – 1151Helical; Name=121 PublicationAdd BLAST21
Topological domaini1152 – 1480Cytoplasmic1 PublicationAdd BLAST329

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Endosome, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cystic fibrosis (CF)72 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common generalized disorder of the exocrine glands 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. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
See also OMIM:219700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00010113S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs397508635EnsemblClinVar.1
Natural variantiVAR_00010331R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs149353983EnsemblClinVar.1
Natural variantiVAR_00010442S → F in CF. 1 PublicationCorresponds to variant dbSNP:rs143456784EnsemblClinVar.1
Natural variantiVAR_00010544D → G in CF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1800074EnsemblClinVar.1
Natural variantiVAR_00010857W → G in CF. 1 PublicationCorresponds to variant dbSNP:rs397508272EnsemblClinVar.1
Natural variantiVAR_00010967P → L in CF. Corresponds to variant dbSNP:rs368505753EnsemblClinVar.1
Natural variantiVAR_00011285G → E in CF. 1 PublicationCorresponds to variant dbSNP:rs75961395EnsemblClinVar.1
Natural variantiVAR_00011387F → L in CF. 1 PublicationCorresponds to variant dbSNP:rs397508403EnsemblClinVar.1
Natural variantiVAR_00011491G → R in CF. Corresponds to variant dbSNP:rs121908750EnsemblClinVar.1
Natural variantiVAR_00011592E → K in CF. 2 PublicationsCorresponds to variant dbSNP:rs121908751EnsemblClinVar.1
Natural variantiVAR_00011698Q → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508464EnsemblClinVar.1
Natural variantiVAR_000117105I → S in CF. 1
Natural variantiVAR_000118109Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs121909031EnsemblClinVar.1
Natural variantiVAR_000121117R → C in CF. 1 PublicationCorresponds to variant dbSNP:rs77834169EnsemblClinVar.1
Natural variantiVAR_000123117R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421EnsemblClinVar.1
Natural variantiVAR_000124117R → P in CF. 1 PublicationCorresponds to variant dbSNP:rs78655421EnsemblClinVar.1
Natural variantiVAR_000125120A → T in CF. 1 PublicationCorresponds to variant dbSNP:rs201958172EnsemblClinVar.1
Natural variantiVAR_000126139H → R in CF. 1 PublicationCorresponds to variant dbSNP:rs76371115EnsemblClinVar.1
Natural variantiVAR_000127141A → D in CF. 1 PublicationCorresponds to variant dbSNP:rs397508700EnsemblClinVar.1
Natural variantiVAR_000128148I → T in CF; unknown pathological significance; found in compound heterozygous patients bearing a severe CF mutation in trans; loss of bicarbonate transport; decreased inhibition of epithelial sodium channel (ENaC), when tested in a heterologous system; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 3 PublicationsCorresponds to variant dbSNP:rs35516286EnsemblClinVar.1
Natural variantiVAR_000130178G → R in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs80282562EnsemblClinVar.1
Natural variantiVAR_000131192Missing in CF. 1 Publication1
Natural variantiVAR_000133199H → Q in CF. Corresponds to variant dbSNP:rs397508765EnsemblClinVar.1
Natural variantiVAR_000134199H → Y in CF. 1 PublicationCorresponds to variant dbSNP:rs121908802EnsemblClinVar.1
Natural variantiVAR_000135205P → S in CF. 1 PublicationCorresponds to variant dbSNP:rs121908803EnsemblClinVar.1
Natural variantiVAR_080302220 – 1480Missing in CF. 1 PublicationAdd BLAST1261
Natural variantiVAR_000137225C → R in CF; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397508780EnsemblClinVar.1
Natural variantiVAR_000140287N → Y in CF; decreased presence at the cell membrane due to increased internalization from the apical cell membrane; no effect on single channel gating and conductance. 2 PublicationsCorresponds to variant dbSNP:rs397508804EnsemblClinVar.1
Natural variantiVAR_000141297R → Q in CF. Corresponds to variant dbSNP:rs143486492EnsemblClinVar.1
Natural variantiVAR_000142301Y → C in CF. Corresponds to variant dbSNP:rs150691494EnsemblClinVar.1
Natural variantiVAR_000143307S → N in CF. Corresponds to variant dbSNP:rs397508817EnsemblClinVar.1
Natural variantiVAR_000144311F → L in CF. Corresponds to variant dbSNP:rs121909016EnsemblClinVar.1
Natural variantiVAR_000145311Missing in CF. 1 Publication1
Natural variantiVAR_000146314G → E in CF. Corresponds to variant dbSNP:rs75763344EnsemblClinVar.1
Natural variantiVAR_000147314G → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508819EnsemblClinVar.1
Natural variantiVAR_000150336I → K in CF. Corresponds to variant dbSNP:rs397508139EnsemblClinVar.1
Natural variantiVAR_000151338T → I in CF; mild; isolated hypotonic dehydration. 2 PublicationsCorresponds to variant dbSNP:rs77409459EnsemblClinVar.1
Natural variantiVAR_000152346L → P in CF; dominant mutation but mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs397508146EnsemblClinVar.1
Natural variantiVAR_000153347R → H in CF. Corresponds to variant dbSNP:rs77932196EnsemblClinVar.1
Natural variantiVAR_000154347R → L in CF. Corresponds to variant dbSNP:rs77932196EnsemblClinVar.1
Natural variantiVAR_000155347R → P in CF; MILD. Corresponds to variant dbSNP:rs77932196EnsemblClinVar.1
Natural variantiVAR_000156352R → Q in CF. Corresponds to variant dbSNP:rs121908753EnsemblClinVar.1
Natural variantiVAR_000158359 – 360QT → KK in CF. Corresponds to variant dbSNP:rs397508152Ensembl.2
Natural variantiVAR_000157359Q → K in CF. Corresponds to variant dbSNP:rs76879328EnsemblClinVar.1
Natural variantiVAR_000159370K → KNK in CF. 1 Publication1
Natural variantiVAR_000160455A → E in CF. 1 PublicationCorresponds to variant dbSNP:rs74551128EnsemblClinVar.1
Natural variantiVAR_000161456V → F in CF. Corresponds to variant dbSNP:rs397508195EnsemblClinVar.1
Natural variantiVAR_000162458G → V in CF. Corresponds to variant dbSNP:rs121909009EnsemblClinVar.1
Natural variantiVAR_000165480G → C in CF. Corresponds to variant dbSNP:rs79282516EnsemblClinVar.1
Natural variantiVAR_000166492S → F in CF. Corresponds to variant dbSNP:rs121909017EnsemblClinVar.1
Natural variantiVAR_000167504E → Q in CF. Corresponds to variant dbSNP:rs397508223EnsemblClinVar.1
Natural variantiVAR_000170507Missing in CF; impaired maturation of glycan chains. 2 Publications1
Natural variantiVAR_000174520V → F in CF. 1 PublicationCorresponds to variant dbSNP:rs77646904EnsemblClinVar.1
Natural variantiVAR_080305542 – 1480Missing in CF. 1 PublicationAdd BLAST939
Natural variantiVAR_000177549S → I in CF; impaired maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs121908755EnsemblClinVar.1
Natural variantiVAR_000176549S → N in CF. Corresponds to variant dbSNP:rs121908755EnsemblClinVar.1
Natural variantiVAR_000178549S → R in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs121909005EnsemblClinVar.1
Natural variantiVAR_000179551G → D in CF; decrease in the frequency of channel opening in vitro; decrease in channel activity and ATPase activity; complete loss of bicarbonate transport; no effect on trafficking to the cell membrane, protein stability, nor on the maturation of glycans. 8 PublicationsCorresponds to variant dbSNP:rs75527207EnsemblClinVar.1
Natural variantiVAR_000180551G → S in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs121909013EnsemblClinVar.1
Natural variantiVAR_000181553R → Q in CF. Corresponds to variant dbSNP:rs121909044EnsemblClinVar.1
Natural variantiVAR_000182558L → S in CF. Corresponds to variant dbSNP:rs193922504EnsemblClinVar.1
Natural variantiVAR_000183559A → T in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs75549581EnsemblClinVar.1
Natural variantiVAR_000184560R → K in CF. Corresponds to variant dbSNP:rs80055610EnsemblClinVar.1
Natural variantiVAR_000185560R → S in CF. 1 PublicationCorresponds to variant dbSNP:rs397508267EnsemblClinVar.1
Natural variantiVAR_000186560R → T in CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity. 1 PublicationCorresponds to variant dbSNP:rs80055610EnsemblClinVar.1
Natural variantiVAR_080307561A → E in CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity. 1 PublicationCorresponds to variant dbSNP:rs121909047EnsemblClinVar.1
Natural variantiVAR_000188562V → L in CF. 1 PublicationCorresponds to variant dbSNP:rs1800097EnsemblClinVar.1
Natural variantiVAR_000189563Y → N in CF. Corresponds to variant dbSNP:rs121909006EnsemblClinVar.1
Natural variantiVAR_000190569Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs397508277EnsemblClinVar.1
Natural variantiVAR_000191569Y → D in CF. 1 PublicationCorresponds to variant dbSNP:rs397508276EnsemblClinVar.1
Natural variantiVAR_000192569Y → H in CF. Corresponds to variant dbSNP:rs397508276EnsemblClinVar.1
Natural variantiVAR_000193571L → S in CF. Corresponds to variant dbSNP:rs397508280EnsemblClinVar.1
Natural variantiVAR_000194572D → N in CF; impaired maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs397508282EnsemblClinVar.1
Natural variantiVAR_000195574P → H in CF. Corresponds to variant dbSNP:rs121908758EnsemblClinVar.1
Natural variantiVAR_000197579D → G in CF. 2 PublicationsCorresponds to variant dbSNP:rs397508288EnsemblClinVar.1
Natural variantiVAR_000198601I → F in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs397508306EnsemblClinVar.1
Natural variantiVAR_000199610L → S in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs397508311EnsemblClinVar.1
Natural variantiVAR_000200613A → T in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs201978662EnsemblClinVar.1
Natural variantiVAR_000201614D → G in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs201124247EnsemblClinVar.1
Natural variantiVAR_000202618I → T in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs139468767EnsemblClinVar.1
Natural variantiVAR_000203619L → S in CF; impaired maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs397508313EnsemblClinVar.1
Natural variantiVAR_000204620H → P in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs397508314EnsemblClinVar.1
Natural variantiVAR_000205620H → Q in CF; strong decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation. 1 PublicationCorresponds to variant dbSNP:rs397508315EnsemblClinVar.1
Natural variantiVAR_000207628G → R in CF; impaired maturation of glycan chains. 2 PublicationsCorresponds to variant dbSNP:rs397508316EnsemblClinVar.1
Natural variantiVAR_000208633L → P in CF; impaired maturation of glycan chains. 1 PublicationCorresponds to variant dbSNP:rs397508318EnsemblClinVar.1
Natural variantiVAR_000209648D → V in CF; decrease in bicarbonate transport; no effect chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs121909033EnsemblClinVar.1
Natural variantiVAR_000210651D → N in CF. Corresponds to variant dbSNP:rs780526529Ensembl.1
Natural variantiVAR_000211665T → S in CF; no effect on glycan maturation and channel activity. 2 PublicationsCorresponds to variant dbSNP:rs1177201180Ensembl.1
Natural variantiVAR_000213693F → L in CF; unknown pathological significance. 2 PublicationsCorresponds to variants dbSNP:rs145540754 and dbSNP:rs397508338EnsemblClinVarEnsembl.1
Natural variantiVAR_080308710 – 1480Missing in CF. 1 PublicationAdd BLAST771
Natural variantiVAR_000214754V → M in CF. Corresponds to variant dbSNP:rs150157202EnsemblClinVar.1
Natural variantiVAR_000219822E → K in CF. Corresponds to variant dbSNP:rs397508378EnsemblClinVar.1
Natural variantiVAR_080309846 – 1480Missing in CF. 1 PublicationAdd BLAST635
Natural variantiVAR_000221866C → Y in CF. Corresponds to variant dbSNP:rs193922506EnsemblClinVar.1
Natural variantiVAR_080310890 – 1480Missing in CF. 2 PublicationsAdd BLAST591
Natural variantiVAR_000223913Y → C in CF. 1 PublicationCorresponds to variant dbSNP:rs121909008EnsemblClinVar.1
Natural variantiVAR_000224917Y → C in CF. Corresponds to variant dbSNP:rs397508428EnsemblClinVar.1
Natural variantiVAR_000225949H → Y in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs121909035EnsemblClinVar.1
Natural variantiVAR_0002281005I → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508479EnsemblClinVar.1
Natural variantiVAR_0002291006A → E in CF. 2 PublicationsCorresponds to variant dbSNP:rs397508480EnsemblClinVar.1
Natural variantiVAR_0002301013P → L in CF. 1 PublicationCorresponds to variant dbSNP:rs193922516EnsemblClinVar.1
Natural variantiVAR_0803141023 – 1024Missing in CF; unknown pathological significance. 1 Publication2
Natural variantiVAR_0002311028M → I in CF. 1 PublicationCorresponds to variant dbSNP:rs200553511EnsemblClinVar.1
Natural variantiVAR_0002321052F → V in CF. 1 PublicationCorresponds to variant dbSNP:rs150212784EnsemblClinVar.1
Natural variantiVAR_0002331061G → R in CF. 2 PublicationsCorresponds to variant dbSNP:rs142394380EnsemblClinVar.1
Natural variantiVAR_0803171063 – 1480Missing in CF. 1 PublicationAdd BLAST418
Natural variantiVAR_0002341065L → P in CF. 1 PublicationCorresponds to variant dbSNP:rs121909036EnsemblClinVar.1
Natural variantiVAR_0002351065L → R in CF. 1 PublicationCorresponds to variant dbSNP:rs121909036EnsemblClinVar.1
Natural variantiVAR_0002361066R → C in CF. 2 PublicationsCorresponds to variant dbSNP:rs78194216EnsemblClinVar.1
Natural variantiVAR_0002371066R → H in CF. Corresponds to variant dbSNP:rs121909019EnsemblClinVar.1
Natural variantiVAR_0002381066R → L in CF. 1 PublicationCorresponds to variant dbSNP:rs121909019EnsemblClinVar.1
Natural variantiVAR_0002391067A → T in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs121909020EnsemblClinVar.1
Natural variantiVAR_0002421070R → P in CF. 1 PublicationCorresponds to variant dbSNP:rs78769542EnsemblClinVar.1
Natural variantiVAR_0002411070R → Q in CF; decrease in bicarbonate transport; no effect on chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs78769542EnsemblClinVar.1
Natural variantiVAR_0002431071Q → P in CF. 1 PublicationCorresponds to variant dbSNP:rs121909037EnsemblClinVar.1
Natural variantiVAR_0002441072P → L in CF. 1
Natural variantiVAR_0002451077L → P in CF. Corresponds to variant dbSNP:rs139304906EnsemblClinVar.1
Natural variantiVAR_0002461085H → R in CF. 1 PublicationCorresponds to variant dbSNP:rs79635528EnsemblClinVar.1
Natural variantiVAR_0803191092 – 1480Missing in CF. 1 PublicationAdd BLAST389
Natural variantiVAR_0002471098W → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508531EnsemblClinVar.1
Natural variantiVAR_0002481101M → K in CF. 1 PublicationCorresponds to variant dbSNP:rs36210737EnsemblClinVar.1
Natural variantiVAR_0115651101M → R in CF. 1 PublicationCorresponds to variant dbSNP:rs36210737EnsemblClinVar.1
Natural variantiVAR_0002491137M → V in CF; decreases channel activity; no visible effect on protein maturation. 1 PublicationCorresponds to variant dbSNP:rs397508553EnsemblClinVar.1
Natural variantiVAR_0002501140Missing in CF; abolishes channel activity; no visible effect on protein maturation. 2 Publications1
Natural variantiVAR_0803211162 – 1480Missing in CF. 1 PublicationAdd BLAST319
Natural variantiVAR_0803221200K → E in CF; unknown pathological significance. 1 Publication1
Natural variantiVAR_0803231204 – 1480Missing in CF. 1 PublicationAdd BLAST277
Natural variantiVAR_0002541234I → V in CF. Corresponds to variant dbSNP:rs75389940EnsemblClinVar.1
Natural variantiVAR_0002551235S → R in CF. Corresponds to variant dbSNP:rs34911792EnsemblClinVar.1
Natural variantiVAR_0002561244G → E in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 1 PublicationCorresponds to variant dbSNP:rs267606723EnsemblClinVar.1
Natural variantiVAR_0002571249G → E in CF. 1 PublicationCorresponds to variant dbSNP:rs121909040EnsemblClinVar.1
Natural variantiVAR_0002581251S → N in CF. Corresponds to variant dbSNP:rs74503330EnsemblClinVar.1
Natural variantiVAR_0002591255S → P in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs121909041EnsemblClinVar.1
Natural variantiVAR_0002611282W → R in CF. Corresponds to variant dbSNP:rs397508616EnsemblClinVar.1
Natural variantiVAR_0002621283R → M in CF. 1 PublicationCorresponds to variant dbSNP:rs77902683EnsemblClinVar.1
Natural variantiVAR_0002631286F → S in CF. Corresponds to variant dbSNP:rs121909028EnsemblClinVar.1
Natural variantiVAR_0002641291Q → H in CF. 1 PublicationCorresponds to variant dbSNP:rs121909015EnsemblClinVar.1
Natural variantiVAR_0002651291Q → R in CF. 1 PublicationCorresponds to variant dbSNP:rs397508621EnsemblClinVar.1
Natural variantiVAR_0002661303N → H in CF. Corresponds to variant dbSNP:rs121909042EnsemblClinVar.1
Natural variantiVAR_0002671303N → K in CF; impaired maturation of glycan chains; has low in vitro channel activity at low temperature. 5 PublicationsCorresponds to variant dbSNP:rs80034486EnsemblClinVar.1
Natural variantiVAR_0002681349G → D in CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. 2 PublicationsCorresponds to variant dbSNP:rs193922525EnsemblClinVar.1
Natural variantiVAR_0002701397V → E in CF. 1 PublicationCorresponds to variant dbSNP:rs397508691EnsemblClinVar.1
Congenital bilateral absence of the vas deferens (CBAVD)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionImportant 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.
See also OMIM:277180
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00010750S → Y in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508220EnsemblClinVar.1
Natural variantiVAR_000120111P → L in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs140502196EnsemblClinVar.1
Natural variantiVAR_000129149G → R in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508718EnsemblClinVar.1
Natural variantiVAR_009896170R → H in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1800079EnsemblClinVar.1
Natural variantiVAR_080303232V → D in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397508783EnsemblClinVar.1
Natural variantiVAR_000138244M → K in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508790EnsemblClinVar.1
Natural variantiVAR_000139258R → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs191456345EnsemblClinVar.1
Natural variantiVAR_080304443D → Y in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147422190EnsemblClinVar.1
Natural variantiVAR_000173513D → G in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508225EnsemblClinVar.1
Natural variantiVAR_000175544G → V in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508241EnsemblClinVar.1
Natural variantiVAR_080306556I → V in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs75789129EnsemblClinVar.1
Natural variantiVAR_000196576G → A in CBAVD; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1800098EnsemblClinVar.1
Natural variantiVAR_000212668R → C in CBAVD; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs1800100EnsemblClinVar.1
Natural variantiVAR_000215766R → M in CBAVD. Corresponds to variant dbSNP:rs397508363EnsemblClinVar.1
Natural variantiVAR_000216792R → G in CBAVD; no effect on glycan maturation but decreased channel activity. 1 PublicationCorresponds to variant dbSNP:rs145449046EnsemblClinVar.1
Natural variantiVAR_000217800A → G in CBAVD; small decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation. 3 PublicationsCorresponds to variant dbSNP:rs397508373EnsemblClinVar.1
Natural variantiVAR_000218807I → M in CBAVD. Corresponds to variant dbSNP:rs1800103EnsemblClinVar.1
Natural variantiVAR_080311938V → G in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs193922511EnsemblClinVar.1
Natural variantiVAR_080312959A → V in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397508448EnsemblClinVar.1
Natural variantiVAR_080313977S → F in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141033578EnsemblClinVar.1
Natural variantiVAR_0803161032Y → C in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144055758EnsemblClinVar.1
Natural variantiVAR_0803181069G → R in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200321110EnsemblClinVar.1
Natural variantiVAR_0115641070R → W in CBAVD. Corresponds to variant dbSNP:rs202179988EnsemblClinVar.1
Natural variantiVAR_0803201153V → E in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397508567EnsemblClinVar.1
Natural variantiVAR_0803251352Q → H in CBAVD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113857788EnsemblClinVar.1
Natural variantiVAR_0002691364A → V in CBAVD. 1 PublicationCorresponds to variant dbSNP:rs397508670EnsemblClinVar.1
Natural variantiVAR_0803261473 – 1480Missing in CBAVD; unknown pathological significance. 1 Publication8

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi464K → M: Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane. 1 Publication1
Mutagenesisi508F → R: Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane. 2 Publications1
Mutagenesisi539I → T: Enhances trafficking from the endoplasmic reticulum to the cell membrane. 1 Publication1
Mutagenesisi894N → D: Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-900. 1 Publication1
Mutagenesisi900N → D: Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-894. 1 Publication1
Mutagenesisi1137M → R: Abolishes channel activity. Impairs protein maturation, suggesting the protein is retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi1139I → V: Decreases channel activity, no visible effect on protein maturation. 1 Publication1
Mutagenesisi1154D → G: Decreases channel activity, no visible effect on protein maturation. 1 Publication1
Mutagenesisi1250K → M: No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1080
GeneReviewsiCFTR
MalaCardsiCFTR
MIMi219700 phenotype
277180 phenotype
OpenTargetsiENSG00000001626
Orphaneti498359 Aquagenic palmoplantar keratoderma
48 Congenital bilateral absence of vas deferens
586 Cystic fibrosis
676 Hereditary chronic pancreatitis
60033 Idiopathic bronchiectasis
399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
PharmGKBiPA109

Chemistry databases

ChEMBLiCHEMBL4051
DrugBankiDB00887 Bumetanide
DB04941 Crofelemer
DB01016 Glyburide
DB01050 Ibuprofen
DB08820 Ivacaftor
DB09280 Lumacaftor
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester
DB04522 Phosphonoserine
GuidetoPHARMACOLOGYi707

Polymorphism and mutation databases

BioMutaiCFTR
DMDMi147744553

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934191 – 1480Cystic fibrosis transmembrane conductance regulatorAdd BLAST1480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi524S-palmitoyl cysteine1 Publication1
Modified residuei549PhosphoserineCombined sources1
Modified residuei660Phosphoserine; by PKA4 Publications1
Modified residuei670Phosphoserine; by PKA1 Publication1
Modified residuei686Phosphoserine; by PKC2 Publications1
Cross-linki688Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei700Phosphoserine; by PKA4 Publications1
Modified residuei712Phosphoserine; by PKA3 Publications1
Modified residuei717Phosphothreonine1 Publication1
Modified residuei737Phosphoserine; by PKA4 Publications