Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
5.6.1.6
Isomerases;
Isomerases altering macromolecular conformation;
Enzymes altering polypeptide conformation or assembly;
channel-conductance-controlling ATPase
PDB | Resolution (Å) | PDB name |
---|---|---|
1XMI | 2.25 | Crystal structure of human F508A NBD1 domain with ATP |
1XMJ | 2.3 | Crystal structure of human deltaF508 human NBD1 domain with ATP |
2BBO | 2.55 | Human NBD1 with Phe508 |
2BBS | 2.05 | Human deltaF508 NBD1 with three solubilizing mutations |
2BBT | 2.3 | Human deltaF508 NBD1 with two solublizing mutations. |
2LOB | PDZ Domain of CAL (Cystic Fibrosis Transmembrane Regulator-Associated Ligand) | |
2PZE | 1.7 | Minimal human CFTR first nucleotide binding domain as a head-to-tail dimer |
2PZF | 2.0 | Minimal human CFTR first nucleotide binding domain as a head-to-tail dimer with delta F508 |
2PZG | 1.8 | Minimal human CFTR first nucleotide binding domain as a monomer |
3GD7 | 2.7 | Crystal structure of human NBD2 complexed with N6-Phenylethyl-ATP (P-ATP) |
3ISW | 2.8 | Crystal structure of filamin-A immunoglobulin-like repeat 21 bound to an N-terminal peptide of CFTR |
4WZ6 | 2.05 | Human CFTR aa389-678 (NBD1), deltaF508 with three solubilizing mutations, bound ATP |
5D2D | 2.1 | Crystal structure of human 14-3-3 zeta in complex with CFTR R-domain peptide pS753-pS768 |
5D3E | 2.75 | Crystal structure of human 14-3-3 gamma in complex with CFTR R-domain peptide pS768-pS795 |
5D3F | 2.74 | Crystal structure of human 14-3-3 zeta in complex with CFTR R-domain peptide pS753-pS768 and stabilizer fusicoccin-A |
5TF7 | 1.931 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with ATP |
5TF8 | 1.861 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with dTTP |
5TFA | 1.87 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with dUTP |
5TFB | 1.87 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with 7-methyl-GTP |
5TFC | 1.92 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with GTP |
5TFD | 1.891 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with CTP |
5TFF | 1.891 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with UTP |
5TFG | 1.91 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with 5-methyl-UTP |
5TFI | 1.891 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with dGTP |
5TFJ | 1.85 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with dCTP |
5TGK | 1.912 | Nucleotide-binding domain 1 of the human cystic fibrosis transmembrane conductance regulator (CFTR) with dATP |
5UAK | 3.87 | Dephosphorylated, ATP-free human cystic fibrosis transmembrane conductance regulator (CFTR) |
6GJQ | 2.49 | human NBD1 of CFTR in complex with nanobody T27 |
6GJS | 1.95 | Human NBD1 of CFTR in complex with nanobodies D12 and T4 |
6GJU | 2.6 | human NBD1 of CFTR in complex with nanobodies T2a and T4 |
6GK4 | 2.91 | Human NBD1 of CFTR in complex with nanobodies D12 and T8 |
6GKD | 2.99 | human NBD1 of CFTR in complex with nanobodies D12 and G3a |
6HEP | 1.86 | Crystal structure of human 14-3-3 beta in complex with CFTR R-domain peptide pS753-pS768 |
6MSM | 3.2 | Phosphorylated, ATP-bound human cystic fibrosis transmembrane conductance regulator (CFTR) |
6O1V | 3.2 | Complex of human cystic fibrosis transmembrane conductance regulator (CFTR) and GLPG1837 |
6O2P | 3.3 | Complex of ivacaftor with cystic fibrosis transmembrane conductance regulator (CFTR) |
6UK1 | 2.693 | Crystal structure of nucleotide-binding domain 2 (NBD2) of the human Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) |
6WBS | 1.857 | Human CFTR first nucleotide binding domain with dF508/V510D |
6ZE1 | 2.705 | human NBD1 of CFTR in complex with nanobody G11a |
7QI1 | 1.76 | Crystal structure of human 14-3-3 protein beta in complex with CFTR peptide pS753pS768 and PPI stabilizer CY007424 |
7SV7 | 3.8 | The complex of phosphorylated human cystic fibrosis transmembrane conductance regulator (CFTR) with ATP/Mg and Tezacaftor (VX-661) |
7SVD | 2.7 | The complex of phosphorylated human cystic fibrosis transmembrane conductance regulator (CFTR) with ATP/Mg and Lumacaftor (VX-809) |
7SVR | 3.9 | The complex of dephosphorylated human cystic fibrosis transmembrane conductance regulator (CFTR) and Lumacaftor (VX-809) |
8EIG | 3.6 | The complex of phosphorylated human delta F508 cystic fibrosis transmembrane conductance regulator (CFTR) with elexacaftor (VX-445) and ATP/Mg |
8EIO | 2.8 | The complex of phosphorylated human delta F508 cystic fibrosis transmembrane conductance regulator (CFTR) with elexacaftor (VX-445), lumacaftor (VX-809) and ATP/Mg |
8EIQ | 3.0 | The complex of phosphorylated human delta F508 cystic fibrosis transmembrane conductance regulator (CFTR) with Trikafta [elexacaftor (VX-445), tezacaftor (VX-661), ivacaftor (VX-770)] and ATP/Mg |
8EJ1 | 6.9 | Dephosphorylated human delta F508 cystic fibrosis transmembrane conductance regulator (CFTR) |
8FZQ | 4.3 | Dehosphorylated, ATP-bound human cystic fibrosis transmembrane conductance regulator (CFTR) |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0097186 | amelogenesis |
Biological Process | GO:0015701 | bicarbonate transport |
Biological Process | GO:0071320 | cellular response to cAMP |
Biological Process | GO:1904322 | cellular response to forskolin |
Biological Process | GO:1902476 | chloride transmembrane transport |
Biological Process | GO:0006695 | cholesterol biosynthetic process |
Biological Process | GO:0030301 | cholesterol transport |
Biological Process | GO:0051649 | establishment of localization in cell |
Biological Process | GO:0051454 | intracellular pH elevation |
Biological Process | GO:0060081 | membrane hyperpolarization |
Biological Process | GO:0050891 | multicellular organismal-level water homeostasis |
Biological Process | GO:1902161 | positive regulation of cyclic nucleotide-gated ion channel activity |
Biological Process | GO:0070175 | positive regulation of enamel mineralization |
Biological Process | GO:0045921 | positive regulation of exocytosis |
Biological Process | GO:0035774 | positive regulation of insulin secretion involved in cellular response to glucose stimulus |
Biological Process | GO:1902943 | positive regulation of voltage-gated chloride channel activity |
Biological Process | GO:0034976 | response to endoplasmic reticulum stress |
Biological Process | GO:0048240 | sperm capacitation |
Biological Process | GO:0035377 | transepithelial water transport |
Biological Process | GO:0055085 | transmembrane transport |
Biological Process | GO:0006904 | vesicle docking involved in exocytosis |
Molecular Function | GO:0140359 | ABC-type transporter activity |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0016887 | ATP hydrolysis activity |
Molecular Function | GO:0043225 | ATPase-coupled inorganic anion transmembrane transporter activity |
Molecular Function | GO:0042626 | ATPase-coupled transmembrane transporter activity |
Molecular Function | GO:0030165 | PDZ domain binding |
Molecular Function | GO:0106138 | Sec61 translocon complex binding |
Molecular Function | GO:0015106 | bicarbonate transmembrane transporter activity |
Molecular Function | GO:0005254 | chloride channel activity |
Molecular Function | GO:0019869 | chloride channel inhibitor activity |
Molecular Function | GO:0017081 | chloride channel regulator activity |
Molecular Function | GO:0015108 | chloride transmembrane transporter activity |
Molecular Function | GO:0019899 | enzyme binding |
Molecular Function | GO:0005260 | intracellularly ATP-gated chloride channel activity |
Molecular Function | GO:0016853 | isomerase activity |
Molecular Function | GO:0051087 | protein-folding chaperone binding |
Cellular Component | GO:0030660 | Golgi-associated vesicle membrane |
Cellular Component | GO:0016324 | apical plasma membrane |
Cellular Component | GO:0009986 | cell surface |
Cellular Component | GO:0034707 | chloride channel complex |
Cellular Component | GO:0030669 | clathrin-coated endocytic vesicle membrane |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0005769 | early endosome |
Cellular Component | GO:0031901 | early endosome membrane |
Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
Cellular Component | GO:0010008 | endosome membrane |
Cellular Component | GO:0005765 | lysosomal membrane |
Cellular Component | GO:0016020 | membrane |
Cellular Component | GO:0005634 | nucleus |
Cellular Component | GO:0005886 | plasma membrane |
Cellular Component | GO:0032991 | protein-containing complex |
Cellular Component | GO:0055037 | recycling endosome |
Cellular Component | GO:0055038 | recycling endosome membrane |
InterPro | InterPro name |
---|---|
IPR003439 | ABC transporter-like, ATP-binding domain |
IPR003593 | AAA+ ATPase domain |
IPR009147 | Cystic fibrosis transmembrane conductance regulator |
IPR011527 | ABC transporter type 1, transmembrane domain |
IPR017871 | ABC transporter-like, conserved site |
IPR025837 | CFTR regulator domain |
IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
IPR047082 | Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette domain 1 |
Pfam | Pfam name |
---|---|
PF00005 | ABC transporter |
PF00664 | ABC transporter transmembrane region |
PF14396 | Cystic fibrosis TM conductance regulator (CFTR), regulator domain |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-382556 | ABC-family proteins mediated transport | Internal node | R-HSA-382551 | Transport of small molecules |
R-HSA-5627083 | RHO GTPases regulate CFTR trafficking | Leaf | R-HSA-162582 | Signal Transduction |
R-HSA-5678895 | Defective CFTR causes cystic fibrosis | Leaf | R-HSA-1643685 | Disease |
R-HSA-5689880 | Ub-specific processing proteases | Leaf | R-HSA-392499 | Metabolism of proteins |
R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
R-HSA-8856828 | Clathrin-mediated endocytosis | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
R-HSA-9013406 | RHOQ GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
R-HSA-9613829 | Chaperone Mediated Autophagy | Leaf | R-HSA-9612973 | Autophagy |
R-HSA-9615710 | Late endosomal microautophagy | Leaf | R-HSA-9612973 | Autophagy |
R-HSA-9646399 | Aggrephagy | Leaf | R-HSA-9612973 | Autophagy |
HPO ID | HPO name |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000027 | Azoospermia |
HP:0000118 | Phenotypic abnormality |
HP:0000246 | Sinusitis |
HP:0000365 | Hearing impairment |
HP:0000716 | Depression |
HP:0000739 | Anxiety |
HP:0000787 | Nephrolithiasis |
HP:0000798 | Oligospermia |
HP:0000819 | Diabetes mellitus |
HP:0000837 | Increased circulating gonadotropin level |
HP:0000938 | Osteopenia |
HP:0000939 | Osteoporosis |
HP:0000952 | Jaundice |
HP:0000969 | Edema |
HP:0000982 | Palmoplantar keratoderma |
HP:0001047 | Atopic dermatitis |
HP:0001217 | Clubbing |
HP:0001392 | Abnormality of the liver |
HP:0001394 | Cirrhosis |
HP:0001433 | Hepatosplenomegaly |
HP:0001508 | Failure to thrive |
HP:0001648 | Cor pulmonale |
HP:0001658 | Myocardial infarction |
HP:0001733 | Pancreatitis |
HP:0001738 | Exocrine pancreatic insufficiency |
HP:0001944 | Dehydration |
HP:0001945 | Fever |
HP:0001974 | Leukocytosis |
HP:0001977 | Abnormal thrombosis |
HP:0002014 | Diarrhea |
HP:0002020 | Gastroesophageal reflux |
HP:0002024 | Malabsorption |
HP:0002027 | Abdominal pain |
HP:0002035 | Rectal prolapse |
HP:0002094 | Dyspnea |
HP:0002097 | Emphysema |
HP:0002099 | Asthma |
HP:0002105 | Hemoptysis |
HP:0002107 | Pneumothorax |
HP:0002110 | Bronchiectasis |
HP:0002150 | Hypercalciuria |
HP:0002202 | Pleural effusion |
HP:0002205 | Recurrent respiratory infections |
HP:0002240 | Hepatomegaly |
HP:0002570 | Steatorrhea |
HP:0002595 | Ileus |
HP:0002613 | Biliary cirrhosis |
HP:0002724 | Recurrent Aspergillus infections |
HP:0002725 | Systemic lupus erythematosus |
HP:0002726 | Recurrent Staphylococcus aureus infections |
HP:0002783 | Recurrent lower respiratory tract infections |
HP:0002795 | Abnormal respiratory system physiology |
HP:0002842 | Recurrent Burkholderia cepacia infections |
HP:0002910 | Elevated hepatic transaminase |
HP:0003251 | Male infertility |
HP:0003593 | Infantile onset |
HP:0004326 | Cachexia |
HP:0004401 | Meconium ileus |
HP:0004469 | Chronic bronchitis |
HP:0005206 | Pancreatic pseudocyst |
HP:0005213 | Pancreatic calcification |
HP:0005376 | Recurrent Haemophilus influenzae infections |
HP:0005425 | Recurrent sinopulmonary infections |
HP:0006261 | Abnormal phalangeal joint morphology of the hand |
HP:0006528 | Chronic lung disease |
HP:0006532 | Recurrent pneumonia |
HP:0006536 | Airway obstruction |
HP:0006538 | Recurrent bronchopulmonary infections |
HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers |
HP:0007410 | Palmoplantar hyperhidrosis |
HP:0008669 | Abnormal spermatogenesis |
HP:0008734 | Decreased testicular size |
HP:0011109 | Chronic sinusitis |
HP:0011227 | Elevated circulating C-reactive protein concentration |
HP:0011463 | Childhood onset |
HP:0011947 | Respiratory tract infection |
HP:0011949 | Acute infectious pneumonia |
HP:0011961 | Non-obstructive azoospermia |
HP:0011962 | Obstructive azoospermia |
HP:0012092 | Abnormality of exocrine pancreas physiology |
HP:0012210 | Abnormal renal morphology |
HP:0012236 | Elevated sweat chloride |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0012873 | Absent vas deferens |
HP:0025080 | Orthokeratotic hyperkeratosis |
HP:0030247 | Splanchnic vein thrombosis |
HP:0030828 | Wheezing |
HP:0030830 | Crackles |
HP:0030877 | Reduced FEV1/FVC ratio |
HP:0031245 | Productive cough |
HP:0031248 | Palmar pruritus |
HP:0031289 | White papule |
HP:0032261 | Nontuberculous mycobacterial pulmonary infection |
HP:0032341 | Reduced forced vital capacity |
HP:0032342 | Reduced forced expiratory volume in one second |
HP:0032359 | Decreased forced expiratory flow 25-75% |
HP:0045082 | Decreased body mass index |
HP:0100027 | Recurrent pancreatitis |
HP:0100582 | Nasal polyposis |
HP:0100749 | Chest pain |
HP:0100759 | Clubbing of fingers |
HP:0100812 | Halitosis |
HP:0200035 | Skin plaque |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
hereditary chronic pancreatitis | MONDO:0008185 | K86 | chapter11, Diseases of the digestive system | OMIM:167800 | Orphanet:676 |
bronchiectasis with or without elevated sweat chloride 1 | MONDO:0008887 | J47 | chapter10, Diseases of the respiratory system | OMIM:211400 | |
cystic fibrosis | MONDO:0009061 | E84 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:219700 | Orphanet:586 |
congenital bilateral aplasia of vas deferens from cftr mutation | MONDO:0010178 | Q55 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:277180 |