CFTR Pathway - CISMeF

Preferred Label : CFTR Pathway;

NCIt related terms : Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway;

Alternative definition : BIOCARTA: The defects in cAMP-regulated chloride channel CTFR are believed to be the major cause for cystic fibrosis. Regulation of CFTR protein by the surface receptor beta adrenergic receptor is mediated through the ezrin/radixin/moesin binding phosphoprotein 50 (EBP50), which binds both the C-termini CFTR and b2AR through their PDZ binding motifs. In the resting state, CFTR, b2AR, and EBP50 exist as a macromolecular complex on the apical surface of epithelial cells. Upon agonist activation of the b2AR, the adenylate cyclase is stimulated through the G protein pathway, leading to an increase in cAMP. The elevated concentration of cAMP activates PKA, which is anchored near CFTR via interaction with Ezrin. The phosphorylation of CFTR by PKA disrupts the complex and leads to compartmentalized and specific signaling of the channel. (This definition may be outdated - see the DesignNote.);

NCIt note : The BIOCARTA Definition (ALT_DEFINITION) for this pathway concept was provided by BioCarta. This property was not created by, nor is it maintained by the NCI Thesaurus staff. Additionally, BioCarta is no longer updating its pathway data; thus, the BIOCARTA Definition might be outdated or inaccurate. Please see the Terms and Conditions for Use at http://www.biocarta.com/.;

Biocarta ID : h_cftrPathway;

Details

Origin ID

C39027;

UMLS CUI

C1511437;

Semantic type(s)
- Molecular Function [UMLS semantic type]
has_gene_product_element
- Beta-2 Adrenergic Receptor [NCIt concept]
- Cystic Fibrosis Transmembrane Conductance Regulator [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms XLas [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Beta [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Gamma [NCIt concept]
- cAMP-Dependent Protein Kinase Type I-Alpha Regulatory Subunit [NCIt concept]
- cAMP-Dependent Protein Kinase Type II-Alpha Regulatory Subunit [NCIt concept]
pathway_has_gene_element
- ADRB2 wt Allele [NCIt concept]
- CFTR wt Allele [NCIt concept]
- GNAS wt Allele [NCIt concept]
- PRKACB wt Allele [NCIt concept]
- PRKACG wt Allele [NCIt concept]
- PRKAR1A wt Allele [NCIt concept]
- PRKAR2A wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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