Gene
cftr
- ID
- ZDB-GENE-050517-20
- Name
- CF transmembrane conductance regulator
- Symbol
- cftr Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Exhibits ATP binding activity and ATPase activity. Involved in several processes, including Kupffer's vesicle development; germ cell migration; and regulation of neutrophil chemotaxis. Localizes to apical plasma membrane and integral component of membrane. Used to study cystic fibrosis and diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); cystic fibrosis; and lung disease (multiple). Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. Orthologous to human CFTR (CF transmembrane conductance regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 37 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive congenital bilateral absence of vas deferens | Alliance | Congenital bilateral absence of vas deferens | 277180 |
bronchiectasis | Alliance | {Bronchiectasis with or without elevated sweat chloride 1, modifier of} | 211400 |
bronchiectasis 1 | Alliance | {Bronchiectasis with or without elevated sweat chloride 1, modifier of} | 211400 |
cystic fibrosis | Alliance | Cystic fibrosis | 219700 |
pancreatitis | Alliance | {Pancreatitis, hereditary} | 167800 |
Sweat chloride elevation without CF | |||
{Hypertrypsinemia, neonatal} |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR017871 | ABC transporter-like, conserved site |
Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
Domain | IPR003593 | AAA+ ATPase domain |
Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
Domain | IPR025837 | CFTR regulator domain |
Family | IPR009147 | Cystic fibrosis transmembrane conductance regulator |
Family | IPR050173 | ATP-binding cassette transporter C |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
Domain Details Per Protein
Protein | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette transporter C | CFTR regulator domain | Cystic fibrosis transmembrane conductance regulator | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q1LX78
|
1485 |
Interactions and Pathways
No data available
Plasmids