Mus musculus Protein: Clic5 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-184860.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Clic5 | ||||||||||||||||||||||
Protein Name | chloride intracellular channel 5 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Protein | ENSMUSP00000024755 | ||||||||||||||||||||||
InnateDB Gene | IDBG-184858 (Clic5) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti. {ECO:0000269PubMed:17021174}. | ||||||||||||||||||||||
Subcellular Localization | Golgi apparatus {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Note=Defects in Clic5 are a cause of the jitterbug (jbg) phenotype. Jbg is the result of a spontaneous mutation that leads to severe degeneration of the organ of Corti in the inner ear. Jbg leads to progressive degeneration of inner ear hair cells. Affected mice are identified by head bobbing, circling behavior and their inability to swim. They cannot hear well when young, and become completely deaf after 5 months. {ECO:0000269PubMed:17021174}. | ||||||||||||||||||||||
Tissue Specificity | Detected in lung and inner ear. Detected in embryonic cochlea, on microvilli-covered apical surfaces of interdental cells, columnar cells of Kolliker's organ, and on stereocilia of inner and outer hair cells (at protein level). {ECO:0000269PubMed:17021174}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | MGI:1917912 | ||||||||||||||||||||||
InterPro |
IPR002946
Intracellular chloride channel IPR010987 Glutathione S-transferase, C-terminal-like IPR012336 Thioredoxin-like fold |
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PFAM |
PF13098
PF13192 PF13462 PF13905 |
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PRINTS |
PR01263
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PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q8BXK9 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8BXK9 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 224796 | ||||||||||||||||||||||
UniGene | Mm.37666 | ||||||||||||||||||||||
RefSeq | NP_766209 | ||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||
MGI Symbol | Clic5 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS28804 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK046522 AK156849 BC064037 | ||||||||||||||||||||||
GenPept | AAH64037 BAC32769 BAE33875 | ||||||||||||||||||||||