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p(HGNC:CFTR)

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Entity

Name
CFTR
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 1

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

In-Edges 2

bp(GO:"ERAD pathway") regulates deg(p(HGNC:CFTR)) View Subject | View Object

It should be noted that CFTR degradation is mediated by Endoplasmic Reticulum Associated Degradation (ERAD—a quality control mechanism that eliminates, via the UPS, misfolded/mutated/abnormal membrane or lumenal ER proteins following their retrotranslocation to the cytosol via the Sec61 translocation channel). PubMed:14556719

Appears in Networks:

p(HGNC:CFTR, var("p.Phe508del")) increases deg(p(HGNC:CFTR)) View Subject | View Object

This case may be analogous to the loss of function observed during the rapid degradation of mutated ΔF508 Cystic Fibrosis Transmembrane conductance Regulator (CFTR), which is also an active protein, and that the rapid degradation of which contributes to the pathogenesis of cystic fibrosis (CF) in patients carrying the mutation PubMed:14556719

Appears in Networks:

Out-Edges 1

p(HGNC:CFTR) hasVariant p(HGNC:CFTR, var("p.Phe508del")) View Subject | View Object

Appears in Networks:

About

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.