InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CFTR

Summary

InnateDB Protein

IDBP-37715.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CFTR

Protein 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 Protein

ENSP00000003084

InnateDB Gene

IDBG-37713 (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. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. {ECO:0000269PubMed:22178883}.

Subcellular Localization

Early endosome membrane; Multi-pass membrane protein. Cell membrane. Note=In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia. {ECO:0000269PubMed:22207244}.

Disease Associations

Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. {ECO:0000269PubMed:10094564, ECO:0000269PubMed:1284466, ECO:0000269PubMed:1284468, ECO:0000269PubMed:1284529, ECO:0000269PubMed:1284530, ECO:0000269PubMed:1695717, ECO:0000269PubMed:1710600, ECO:0000269PubMed:2236053, ECO:0000269PubMed:7504969, ECO:0000269PubMed:7505694, ECO:0000269PubMed:7513296, ECO:0000269PubMed:7517264, ECO:0000269PubMed:7520022, ECO:0000269PubMed:7522211, ECO:0000269PubMed:7524909, ECO:0000269PubMed:7524913, ECO:0000269PubMed:7525450, ECO:0000269PubMed:7537150, ECO:0000269PubMed:7541273, ECO:0000269PubMed:7541510, ECO:0000269PubMed:7543567, ECO:0000269PubMed:7544319, ECO:0000269PubMed:7581407, ECO:0000269PubMed:7680525, ECO:0000269PubMed:7683628, ECO:0000269PubMed:7683954, ECO:0000269PubMed:8081395, ECO:0000269PubMed:8522333, ECO:0000269PubMed:8723693, ECO:0000269PubMed:8723695, ECO:0000269PubMed:8800923, ECO:0000269PubMed:8829633, ECO:0000269PubMed:8956039, ECO:0000269PubMed:9101301, ECO:0000269PubMed:9222768, ECO:0000269PubMed:9375855, ECO:0000269PubMed:9401006, ECO:0000269PubMed:9443874, ECO:0000269PubMed:9452048, ECO:0000269PubMed:9452054, ECO:0000269PubMed:9452073, ECO:0000269PubMed:9482579, ECO:0000269PubMed:9521595, ECO:0000269PubMed:9554753, ECO:0000269PubMed:9736778, ECO:0000269PubMed:9921909}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO:0000269PubMed:10651488, ECO:0000269PubMed:7529962, ECO:0000269PubMed:7539342, ECO:0000269PubMed:9067761, ECO:0000269Ref.77}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level). {ECO:0000269PubMed:22207244}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR005291 Cyclic AMP-dependent chloride channel
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

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt