Version 5.4
Mus musculus Gene: Cftr
Summary
InnateDB Gene IDBG-129229.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cftr
Gene Name cystic fibrosis transmembrane conductance regulator
Synonyms Abcc7; AW495489
Species Mus musculus
Ensembl Gene ENSMUSG00000041301
Encoded Proteins
IDBP-129231
cystic fibrosis transmembrane conductance regulator homolog
IDBP-249718
cystic fibrosis transmembrane conductance regulator homolog
IDBP-249720
cystic fibrosis transmembrane conductance regulator homolog
IDBP-541705
cystic fibrosis transmembrane conductance regulator homolog
IDBP-541254
cystic fibrosis transmembrane conductance regulator homolog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 21712022
Cftr deficiency alters the innate immunity of the biliary epithelium and reduces endotoxin tolerance, resulting in increased inflammatory response mediated by Tlr4 and NFkB.
PMID 22859830
Cftr is involved in myeloid cell function and its absence from myeloid-derived cells slows resolution of inflammation and infection of the lung.
InnateDB Annotation from Orthologs
Summary
PMID 21712022
[Homo sapiens] CFTR deficiency alters the innate immunity of the biliary epithelium and reduces endotoxin tolerance, resulting in increased inflammatory response mediated by TLR4 and NFkB.
PMID 22859830
[Homo sapiens] CFTR is involved in myeloid cell function and its absence from myeloid-derived cells slows resolution of inflammation and infection of the lung. (Demonstrated in mouse)
Entrez Gene
Summary The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:18170687-18322768
Strand Forward strand
Band A2
Transcripts
ENSMUST00000045706 ENSMUSP00000049228
ENSMUST00000115406 ENSMUSP00000111065
ENSMUST00000115405 ENSMUSP00000111064
ENSMUST00000140407 ENSMUSP00000116957
ENSMUST00000129452 ENSMUSP00000115334
ENSMUST00000140532
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 211 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 211 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005254 chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015106 bicarbonate transmembrane transporter activity
GO:0015108 chloride transmembrane transporter activity
GO:0016887 ATPase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0019869 chloride channel inhibitor activity
GO:0019899 enzyme binding
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0006200 ATP catabolic process
GO:0006695 cholesterol biosynthetic process
GO:0006810 transport
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006833 water transport
GO:0015701 bicarbonate transport
GO:0015705 iodide transport
GO:0030301 cholesterol transport
GO:0030321 transepithelial chloride transport
GO:0030324 lung development
GO:0032870 cellular response to hormone stimulus
GO:0034097 response to cytokine
GO:0042311 vasodilation
GO:0042493 response to drug
GO:0043434 response to peptide hormone
GO:0043627 response to estrogen
GO:0045087 innate immune response (InnateDB)
GO:0045909 positive regulation of vasodilation
GO:0048240 sperm capacitation
GO:0051454 intracellular pH elevation
GO:0055085 transmembrane transport
GO:0060081 membrane hyperpolarization
GO:0071320 cellular response to cAMP
GO:1902476 chloride transmembrane transport
GO:1902943 positive regulation of voltage-gated chloride channel activity
Cellular Component
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031205 endoplasmic reticulum Sec complex
GO:0031901 early endosome membrane
GO:0034707 chloride channel complex
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000001626
View Gene Order
ENSBTAG00000006589
Not yet available
Pathways
NETPATH
REACTOME
REACT_253400
Transmembrane transport of small molecules pathway
REACT_237882
ABC-family proteins mediated transport pathway
KEGG
mmu02010
ABC transporters pathway
mmu04971
Gastric acid secretion pathway
mmu04976
Bile secretion pathway
mmu04972
Pancreatic secretion pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_15480
ABC-family proteins mediated transport pathway
REACT_15518
Transmembrane transport of small molecules pathway
KEGG
hsa05110
Vibrio cholerae infection pathway
hsa02010
ABC transporters pathway
hsa04971
Gastric acid secretion pathway
hsa04972
Pancreatic secretion pathway
hsa04976
Bile secretion pathway
INOH
PID NCI
Cross-References
SwissProt P26361
TrEMBL
UniProt Splice Variant
Entrez Gene 12638
UniGene Mm.15621 Mm.445229
RefSeq NM_021050 XM_006504977 XM_006504978
OMIM
CCDS CCDS19930
HPRD
IMGT
MGI ID MGI:88388
MGI Symbol Cftr
EMBL AF162137 L04873 M60493 M69298 S65940 S65941 S65942
GenPept AAA18903 AAA37417 AAA73562 AAB28391 AAB28392 AAB28393 AAF30300
RNA Seq Atlas 12638

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca