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 |