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Parameter | Value |
---|---|
Gene | CFTR |
Protein Name | CFTR_HUMAN |
Organism | Homo sapiens (Human) |
Alternative name(s) | Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 3.6.3.49) (cAMP-dependent chloride channel) |
Protein Family | ABC transporter superfamily |
NCBI Gene ID | 1080 |
UniProt ID | P13569 |
Enzyme Class | 3.6.3.49 |
Molecular Weight | 168142 |
Protein Length | 1480 |
Protein Domain | InterPro | Pfam |
3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase | SwissModel |
Gene Expression | Gene Expression Atlas |
Function and Disease | OMIM |
Protein-protein Interaction Database | STRING | IntAct | MINT |
Kinase Database | Phospho.ELM | PhosphoSite | NetworKIN |
Catalytic Activity (UniProt annotation) | ATP + H(2)O = ADP + phosphate. |
Localization | Apical cell membrane |
Function (UniProt annotation) | 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 HCO(3-); 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). |
Gene Ontology | GO:0005254; GO:0005260; GO:0005524; GO:0005634; GO:0005737; GO:0005765; GO:0005769; GO:0005789; GO:0005829; GO:0005886; GO:0005887; GO:0006695; GO:0006904; GO:0009986; GO:0010008; GO:0015106; GO:0015108; GO:0015701; GO:0016020; GO:0016021; GO:0016324; GO:0016579; GO:0016887; GO:0017081; GO:0019869; GO:0019899; GO:0030165; GO:0030301; GO:0030660; GO:0030665; GO:0031901; GO:0032991; GO:0034707; GO:0035377; GO:0035774; GO:0042626; GO:0043225; GO:0045921; GO:0048240; GO:0050891; GO:0051087; GO:0051454; GO:0055037; GO:0055038; GO:0055085; GO:0060081; GO:0061024; GO:0071320; GO:0106138; GO:1902161; GO:1902476; GO:1902943; GO:1904322 |
Gene Name | Organism | P-Site | Sequence(+/-7) | Conservation | Disorder | Curator Assessment | Reliability | Evidence Class | Evidence Logic | PubMed | Phospho-ELM | PhosphoSite-Plus |
---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKAA1 (Q13131) | Homo sapiens | S737 | EPLERRLSLVPDSEQ | 0.978 | 0.708 | TP | certain | experimental | 72 | 9 | 107 | | 19095655 | - |
|
PRKAA1 (Q13131) | Homo sapiens | S768 | LQARRRQSVLNLMTH | 0.833 | 0.4441 | TP | certain | experimental | 72 | 9 | 107 | | 19095655 | - |
|
PRKAA1 (Q13131) | Homo sapiens | S813 | DIYSRRLSQETGLEI | 0.958 | 0.3426 | - | - | - | - | - | - |
|
Reactome Pathways
KEGG Pathways
No NCI Nature pathways found