Version 5.4
Homo sapiens Gene: CFTR
Summary
InnateDB Gene IDBG-37713.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFTR
Gene Name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Synonyms ABC35; ABCC7; CF; CFTR/MRP; dJ760C5.1; MRP7; TNR-CFTR
Species Homo sapiens
Ensembl Gene ENSG00000001626
Encoded Proteins
IDBP-37715
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
IDBP-385735
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
IDBP-385739
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
IDBP-477685
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
IDBP-718373
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. (Demonstrated in mouse)
InnateDB Annotation from Orthologs
Summary
PMID 21712022
[Mus musculus] 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
[Mus musculus] Cftr is involved in myeloid cell function and its absence from myeloid-derived cells slows resolution of inflammation and infection of the lung.
Entrez Gene
Summary This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:117465784-117715971
Strand Forward strand
Band q31.2
Transcripts
ENST00000003084 ENSP00000003084
ENST00000446805 ENSP00000417012
ENST00000426809 ENSP00000389119
ENST00000429014
ENST00000472848
ENST00000468795 ENSP00000419254
ENST00000546407
ENST00000600166 ENSP00000470177
ENST00000608965
ENST00000610149
ENST00000621535
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 316 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 316 [view]
Protein-Protein 303 [view]
Protein-DNA 11 [view]
Protein-RNA 2 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
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: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:0007585 respiratory gaseous exchange
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041301
View Gene Order
ENSBTAG00000006589
Not yet available
Pathways
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
TrEMBL C9J6L5
UniProt Splice Variant
Entrez Gene 1080
UniGene Hs.489786 Hs.604618 Hs.661104
RefSeq NM_000492 XM_006715842
HUGO HGNC:1884
OMIM 602421
CCDS CCDS5773
HPRD 03883
IMGT
EMBL AC000061 AC000111 AC004240
GenPept
RNA Seq Atlas 1080

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