loading...| Preferred Name |
cystic fibrosis transmembrane conductance regulator |
| Synonyms |
CFTR |
| Definitions |
A protein that is a translation product of the human CFTR gene or a 1:1 ortholog thereof. Involved in the transport of chloride ions. The characteristic domain composition of the functional isoform consists of two modules of a membrane-spanning domain (ABC transporter transmembrane region) followed by a nucleotide-binding domain (ABC transporter domains), separated by an intracellular regulatory domain (R-domain). It also contains a C-terminal PDZ-binding region. The R-domain is an inhibitory domain of CFTR,and phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux. |
| ID |
http://purl.obolibrary.org/obo/PR_000001044 |
| comment |
Category=gene. |
| database_cross_reference |
PIRSF:PIRSF002777 |
| id |
PR:000001044 |
| label |
cystic fibrosis transmembrane conductance regulator |
| notation |
PR:000001044 |
| prefLabel |
cystic fibrosis transmembrane conductance regulator |
| textual definition |
A protein that is a translation product of the human CFTR gene or a 1:1 ortholog thereof. Involved in the transport of chloride ions. The characteristic domain composition of the functional isoform consists of two modules of a membrane-spanning domain (ABC transporter transmembrane region) followed by a nucleotide-binding domain (ABC transporter domains), separated by an intracellular regulatory domain (R-domain). It also contains a C-terminal PDZ-binding region. The R-domain is an inhibitory domain of CFTR,and phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux. |
| 引自 | |
| 有_obo_命名空间 |
protein |
| 有_相关的_同义词 |
ABCC7 |
| 有_精确的_同义词 |
CFTR ATP-binding cassette transporter sub-family C member 7 cAMP-dependent chloride channel channel conductance-controlling ATPase |
| subClassOf |