Mus musculus Protein: Cftr
Summary
InnateDB Protein IDBP-541705.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cftr
Protein Name cystic fibrosis transmembrane conductance regulator homolog
Synonyms Abcc7; AW495489;
Species Mus musculus
Ensembl Protein ENSMUSP00000116957
InnateDB Gene IDBG-129229 (Cftr)
Protein Structure
UniProt Annotation
Function Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1 (By similarity). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. {ECO:0000250, ECO:0000269PubMed:21976599}.
Subcellular Localization Early endosome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000255PROSITE- ProRule:PRU00441}. Cell membrane {ECO:0000250}. Note=In epithelial cells, detected on the apical side, but not associated with cilia. {ECO:0000250}.
Disease Associations
Tissue Specificity Isoform 1 is expressed in a variety of epithelial tissues including colon, kidney, lung, small intestine and testis. Isoforms 2 and 3 are expressed only in testis.
Comments
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: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: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
Cellular Component
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0009986 cell surface
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
Protein Structure and Domains
PDB ID MGI:88388
InterPro IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR009147 Cystic fibrosis transmembrane conductance regulator
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00664
PF13748
PF00005
PRINTS PR01851
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P26361
PhosphoSite PhosphoSite-P26361
TrEMBL
UniProt Splice Variant
Entrez Gene 12638
UniGene Mm.445229
RefSeq
MGI ID 3SI7
MGI Symbol Cftr
OMIM
CCDS
HPRD
IMGT
EMBL AF162137 L04873 M60493 M69298 S65940 S65941 S65942
GenPept AAA18903 AAA37417 AAA73562 AAB28391 AAB28392 AAB28393 AAF30300