| PRO ID |
PR:000001044
Show OBO stanza
/ PAF
|
| PRO name |
cystic fibrosis transmembrane conductance regulator |
| Synonyms |
| PRO-short-label: |
CFTR |
| EXACT: |
ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; channel conductance-controlling ATPase |
| Gene-based: |
ABCC7 |
|
| Definition |
A chloride channel 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.
[PMID:9922375, PRO:CNA]
|
| Comment |
Note: The open conformation of the CFTR channel is stabilized via interaction of its N-terminal region with other proteins, most notably filamin. [PRO:DAN, PMID:29779042] |
| PRO Category |
gene |
| Parent |
PR:000044678 chloride channel protein |
| Terms by PRO Category |
Retrieve All terms OBO Stanza
/ PAF
| Organism-Independent |
Organism-Specific |
| Category |
Number of Terms |
Category |
Number of Terms |
|
gene
|
1 |
organism-gene
|
4 |
|
sequence
|
3 |
organism-sequence
|
7 |
|
modification
|
5 |
organism-modification
|
4 |
|
union
|
0 |
|
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