Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
Schema
>
FailedReaction
>
Entries
Defective CFTR does not transport Cl- from cytosol to extracellular region
Show undefined attributes
Go to Details
authored
[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
catalystActivity
[CatalystActivity:9631791] chloride transmembrane transporter activity of CFTR mutants [plasma membrane]
category
transition
compartment
[Compartment:70101] cytosol
[Compartment:876] plasma membrane
[Compartment:984] extracellular region
created
[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
dbId
5678822
disease
[Disease:5678942] cystic fibrosis
displayName
Defective CFTR does not transport Cl- from cytosol to extracellular region
edited
[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
entityFunctionalStatus
[EntityFunctionalStatus:5678980] loss_of_function of CFTR mutants [plasma membrane]
eventOf
[Pathway:R-HSA-5678895] Defective CFTR causes cystic fibrosis - Homo sapiens
input
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[SimpleEntity:R-ALL-352022] Cl- [cytosol]
[SimpleEntity:R-ALL-29356] H2O [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5678873] Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment
[LiteratureReference:5678757] Identification of the cystic fibrosis gene: genetic analysis
[LiteratureReference:5678874] A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew
[LiteratureReference:5678945] Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
[LiteratureReference:5678797] A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
[LiteratureReference:5678786] Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis
[LiteratureReference:5678791] A mutation in the second nucleotide binding fold of the cystic fibrosis gene
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective CFTR does not transport Cl- from cytosol to extracellular region
normalReaction
[Reaction:R-HSA-5678863] CFTR transports Cl- from cytosol to extracellular region
releaseDate
2015-06-17
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5690296] Moitra, Karobi, 2015-04-28
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5678822
summation
[Summation:5678760] Cystic fibrosis transmembrane conductance regulator (CFTR) i...
Referrals
(hasEvent)
[Pathway:R-HSA-5678895] Defective CFTR causes cystic fibrosis
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text