Cystic Fibrosis Transmembrane Conductance Regulator

Preferred Label : Cystic Fibrosis Transmembrane Conductance Regulator;

NCIt synonyms : cAMP-Dependent Chloride Channel; Channel Conductance-Controlling ATPase; CFTR; ATP-Binding Cassette Sub-Family C Member 7; EC 3.6.3.49, Formerly; EC 5.6.1.6;

NCIt definition : Cystic fibrosis transmembrane conductance regulator (1480 aa, 168 kDa) is encoded by the human CFTR gene. This protein is involved in chloride transport and the regulation of other ion transport pathways.;

Details

Origin ID

C111927;

UMLS CUI

C1612819;

Automatic exact mappings (from CISMeF team)
- CF transmembrane conductance regulator [ORDO Gene]
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
- cystic fibrosis transmembrane conductance regulator [MeSH concept]
- cystic fibrosis transmembrane conductance regulator [MeSH Descriptor]
- intracellularly ATP-gated chloride channel activity [GO term]
OMIM relation
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- CFTR protein, human [MeSH Supplementary Concept]
- CFTR protein, human [MeSH concept]
gene_encodes_gene_product
- CFTR Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Isomerase Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Multidrug Resistance Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Early Endosome [NCIt concept]
- Membrane of the Endosome [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- Permease [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- CFTR Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Vibrio cholerae Infection Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Drug Efflux [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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