Protein detail
CFTR
Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
Protein symbol CFTR | UniProt ID | EVMP score 0.38 |
Frequency | Transmembrane count 12 | Protein classification Cancer-related genesDisease related genesEnzymesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsTransporters |
Basic Information
Protein Names
Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
Protein Class
Cancer-related genesDisease related genesEnzymesFDA approved drug targetsHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteinsTransporters
Protein Function
- Human disease related genes:Congenital malformations:Congenital malformations of genital organs
- ENZYME proteins:Isomerase
- Predicted intracellular proteins
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of ion transport and metabolism
- Human disease related genes:Digestive system diseases:Pancreas diseases
- Enzymes
- Cancer-related genes:Candidate cancer biomarkers
- Transporters:Primary Active Transporters
- Disease related genes
- FDA approved drug targets:Small molecule drugs
Transmembrane
78..98; Helical; Name=1; 123..146; Helical; Name=2; 196..216; Helical; Name=3; 223..243; Helical; Name=4; 299..319; Helical; Name=5; 340..358; Helical; Name=6; 859..879; Helical; Name=7; 919..939; Discontinuously helical; Name=8; 991..1011; Helical; Name=9; 1014..1034; Helical; Name=10; 1096..1116; Helical; Name=11; 1131..1151; Helical; Name=12
Transmembrane Count
12
Ensembl
Entrez Gene Symbol
Gene Synonym
ABC35ABCC7CFCFTR/MRPdJ760C5.1MRP7TNR-CFTR
Gene Description
CF transmembrane conductance regulator
Chromosome
7
Position
117287120-117715971
EVMP Score
0.38
Fluorescence & Localization
Function & Pathway
Protein Function
- Human disease related genes:Congenital malformations:Congenital malformations of genital organs
- ENZYME proteins:Isomerase
- Predicted intracellular proteins
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of ion transport and metabolism
- Human disease related genes:Digestive system diseases:Pancreas diseases
- Enzymes
- Cancer-related genes:Candidate cancer biomarkers
- Transporters:Primary Active Transporters
- Disease related genes
- FDA approved drug targets:Small molecule drugs
Cellular Component
- GO:0005634 nucleus
- GO:0005737 cytoplasm
- GO:0005765 lysosomal membrane
- GO:0005769 early endosome
- GO:0005789 endoplasmic reticulum membrane
- GO:0005829 cytosol
- GO:0005886 plasma membrane
- GO:0009986 cell surface
- GO:0010008 endosome membrane
- GO:0016020 membrane
- GO:0016324 apical plasma membrane
- GO:0030660 Golgi-associated vesicle membrane
- GO:0030669 clathrin-coated endocytic vesicle membrane
- GO:0031901 early endosome membrane
- GO:0032991 protein-containing complex
- GO:0034707 chloride channel complex
- GO:0055037 recycling endosome
- GO:0055038 recycling endosome membrane
Molecular Function
- GO:0005254 chloride channel activity
- GO:0005260 intracellularly ATP-gated chloride channel activity
- GO:0005515 protein binding
- GO:0005524 ATP binding
- GO:0015106 bicarbonate transmembrane transporter activity
- GO:0015108 chloride transmembrane transporter activity
- GO:0016853 isomerase activity
- GO:0016887 ATP hydrolysis activity
- GO:0017081 chloride channel regulator activity
- GO:0019869 chloride channel inhibitor activity
- GO:0019899 enzyme binding
- GO:0030165 PDZ domain binding
- GO:0042626 ATPase-coupled transmembrane transporter activity
- GO:0043225 ATPase-coupled inorganic anion transmembrane transporter activity
- GO:0051087 protein-folding chaperone binding
- GO:0071889 14-3-3 protein binding
- GO:0106138 Sec61 translocon complex binding
- GO:0140359 ABC-type transporter activity
Biological Process
- GO:1900738 positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway
- GO:1900736 regulation of phospholipase C-activating G protein-coupled receptor signaling pathway
- GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
KEGG
Reactome
- R-hsa-382556 abc family proteins mediated transport
- R-hsa-5619084 abc transporter disorders
- R-hsa-9646399 aggrephagy
- R-hsa-9612973 autophagy
- R-hsa-8856825 cargo recognition for clathrin mediated endocytosis
- R-hsa-9613829 chaperone mediated autophagy
- R-hsa-8856828 clathrin mediated endocytosis
- R-hsa-5688426 deubiquitination
- R-hsa-9734767 developmental cell lineages
- R-hsa-9820448 developmental cell lineages of the exocrine pancreas
- R-hsa-9925563 developmental lineage of pancreatic ductal cells
- R-hsa-5619115 disorders of transmembrane transporters
- R-hsa-9615710 late endosomal microautophagy
- R-hsa-199991 membrane trafficking
- R-hsa-597592 post translational protein modification
- R-hsa-9013406 rhoq gtpase cycle
- R-hsa-9012999 rho gtpase cycle
- R-hsa-195258 rho gtpase effectors
- R-hsa-9663891 selective autophagy
- R-hsa-9716542 signaling by rho gtpases miro gtpases and rhobtb3
- R-hsa-382551 transport of small molecules
- R-hsa-5689880 ub specific processing proteases
- R-hsa-5653656 vesicle mediated transport
Mediation Categories
Clinical-translation mediationFusion and delivery mediationMetabolism mediationReceptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
84 records.
| Substrate Gene Symbol | Enzyme Gene Symbol | Enzyme UniProt ID | Residue Type | Residue Offset | Modification | Database | References |
|---|---|---|---|---|---|---|---|
| CFTR | PRKCA | P17252 | S | 686 | phosphorylation | BEL-Large-Corpus_ProtMapperphosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPSIGNORProtMapperKEAphosphoELMSIGNOR_ProtMapperPhosphoSite | ProtMapper:15212693KEA:1377674SIGNOR:1377674KEA:92316961phosphoELM:1377674ProtMapper:1377674 |
| CFTR | PRKCA | P17252 | S | 790 | phosphorylation | PhosphoNetworksphosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPSIGNORProtMapperKEASIGNOR_ProtMapper | ProtMapper:1377674SIGNOR:1377674KEA:92316961KEA:1377674 |
| CFTR | PRKCA | P17252 | S | 737 | phosphorylation | PhosphoNetworksphosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPProtMapperPhosphoSitePhosphoSite_ProtMapper | |
| CFTR | PRKCA | P17252 | T | 682 | phosphorylation | PhosphoSite | |
| CFTR | PRKCA | P17252 | S | 660 | phosphorylation | PhosphoNetworksphosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPProtMapperPhosphoSitePhosphoSite_ProtMapper | |
| CFTR | PRKCA | P17252 | S | 795 | phosphorylation | phosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPProtMapperPhosphoSitePhosphoSite_ProtMapper | |
| CFTR | PRKCA | P17252 | S | 641 | phosphorylation | PhosphoSite | |
| CFTR | PRKCA | P17252 | S | 813 | phosphorylation | PhosphoNetworksphosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPProtMapperPhosphoSitePhosphoSite_ProtMapper | |
| CFTR | PRKCA | P17252 | S | 768 | phosphorylation | PhosphoNetworks | |
| CFTR | PRKACA | P17612 | S | 813 | phosphorylation | phosphoELM_MIMPPhosphoSite_MIMPMIMPHPRD_MIMPSIGNORProtMapperKEASIGNOR_ProtMapperPhosphoSitePhosphoSite_ProtMapper | KEA:1377674ProtMapper:1716180SIGNOR:1377674KEA:92316961SIGNOR:1716180ProtMapper:1377674 |
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Ligand-Receptor Signaling
31 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| extracellular | extracellular | OmniPath | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| cell_adhesion | cell_adhesion | Cellinker | Yes | Yes | No | No | No |
| adhesion | adhesion | OmniPath | Yes | Yes | No | No | No |
| cell_adhesion | cell_adhesion | OmniPath | Yes | Yes | No | No | No |
| abcc | transporter | HGNC | No | Yes | No | No | No |
| transporter | transporter | HGNC | No | Yes | No | No | No |
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Regulatory Interaction Network
14 records.
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Protein Complex Composition
6 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| CFTR-GOPC-STX6 complex | CFTRGOPCSTX6 | O43752P13569Q9HD26 | 0:0:0 | CORUM | CORUM:7417 | 20130090 |
| CFTR | P13569 | 5 | PDB | PDB:2pzgPDB:6gk4PDB:6wbsPDB:2pzePDB:2bbtPDB:6gjqPDB:2pzfPDB:1xmiPDB:6uk1PDB:2bbsPDB:6gkd | ||
| CFTRYWHAB | P13569P31946 | 2:4 | PDB | PDB:6hep | ||
| CFTRYWHAG | P13569P61981 | 3:6 | PDB | PDB:5d3e | ||
| CFTRYWHAZ | P13569P63104 | 1:2 | PDB | PDB:5d2dPDB:5d3f | ||
| CFTRGOPC | P13569Q9HD26 | 1:1 | PDB | PDB:2lob |
Sequence, Structure & Domains
Sequences
Length
1,480
Mass
168,142
Sequence
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
Alternative Products
Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125
Alternative Sequence
404..464; Missing (in isoform 2); 589..605; SCVCKLMANKTRILVTS -> RRRCSCLLDRNKKTIF (in isoform 3); 606..1480; Missing (in isoform 3)
3D Structural Models
Turn
169..173; 186..189; 220..222; 574..577; 595..597; 830..832; 883..886; 910..913; 1137..1139; 1341..1345; 1388..1394
Helix
5..8; 11..16; 18..20; 21..27; 34..36; 42..44; 46..63; 70..97; 99..107; 114..118; 120..164; 177..185; 190..193; 194..196; 200..216; 223..249; 252..266; 269..275; 278..312; 314..328; 333..351; 354..375; 403..411; 414..417; 433..436; 460..462; 464..471; 502..507; 514..523; 527..530; 536..538; 550..563; 580..589; 590..594; 607..612; 630..634; 640..644; 650..652; 655..669; 826..829; 849..853; 857..882; 914..926; 931..956; 961..965; 969..1011; 1015..1046; 1049..1060; 1062..1068; 1071..1121; 1128..1136; 1140..1167; 1250..1257; 1274..1276; 1279..1283; 1300..1304; 1312..1321; 1325..1329; 1334..1336; 1348..1361; 1372..1375; 1378..1387; 1404..1406; 1435..1439; 1443..1449
Beta Strand
386..388; 390..399; 440..449; 450..452; 453..457; 478..484; 488..491; 499..501; 533..535; 540..545; 567..573; 598..603; 614..620; 623..628; 904..906; 1123..1125; 1204..1207; 1210..1220; 1226..1234; 1239..1243; 1261..1269; 1286..1290; 1297..1299; 1331..1333; 1365..1371; 1395..1403; 1411..1415; 1422..1427; 1478..1480
3D Structure
Electron microscopy (22); NMR spectroscopy (1); X-ray crystallography (35)
Domain & Motif Annotations
Compositional Bias
1470..1480; Acidic residues
Motif
1478..1480; PDZ-binding
Domain (CC)
Binds and hydrolyzes ATP via the two cytoplasmic ABC transporter nucleotide-binding domains (PubMed:15284228). The two ATP-binding domains interact with each other, forming a head-to-tail dimer (PubMed:17036051). Normal ATPase activity requires interaction between the two domains (PubMed:15284228). The first ABC transporter nucleotide-binding domain has no ATPase activity by itself (By similarity).; DOMAIN: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, NHERF1/EBP50 complex.; DOMAIN: The R region is intrinsically disordered (PubMed:10792060, PubMed:17660831). It mediates channel activation when it is phosphorylated, but not in the absence of phosphorylation (PubMed:10792060).
Domain (FT)
81..365; ABC transmembrane type-1 1; 423..646; ABC transporter 1; 859..1155; ABC transmembrane type-1 2; 1210..1443; ABC transporter 2
Region
654..831; Disordered R region; 1386..1480; Interaction with GORASP2; 1452..1480; Disordered
Protein Families
- ABC transporter superfamily
- ABCC family
- CFTR transporter (TC 3.A.1.202) subfamily
Sequence Similarities
Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily.
Clinical Relevance
Disease Involvement
Cancer-related genesDisease variantFDA approved drug targets
Related Diseases
Biomarker
Phase 2; Approved
Drug Targets
FDA approved drug targets
Drugs
NAVOCAFTORLUMACAFTORBAMOCAFTORNULLTEZACAFTORTEZACAFTOR AND IVACAFTORIVACAFTORGLPG1837VORINOSTATGENISTEINABBV-3221UCCF-853ELEXACAFTORUCCF-029UCCF-339CAPSAICINNS004CURCUMINCROFELEMERGALICAFTORCOMPOUND 16D [PMID: 36573286]CFTRINH-172GATX1SULFONAMIDE-01IOWH-032ICENTICAFTORSCRIPTAIDTRICHOSTATIN AENTINOSTATROFLUMILASTVITAMIN ACYSTEAMINE HYDROCHLORIDEAPIGENINOLACAFTORNIMODIPINEFELODIPINENPPBPHENYLGLYCINE-01GLYBURIDECBIQGLYH-101GLPG-1837
Interaction Protein
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
Interaction Count
34
Interaction Dataset
intact_biogrid