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Details on Person UniProt:Q8BXK9 Clic5
| Class:Id | ReferenceGeneProduct:145591 |
|---|---|
| _chainChangeLog | chain:1-251 added on Fri February 6 2015 |
| _displayName | UniProt:Q8BXK9 Clic5 |
| _timestamp | 2024-08-09 18:50:30 |
| chain | chain:1-251 |
| checksum | 7055A17D22977974 |
| comment | FUNCTION In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (By similarity). Can insert into membranes and form non-selective ion channels almost equally permeable to Na(+), K(+) and Cl(-) (By similarity). Required for normal hearing (By similarity). Necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (PubMed:17021174, PubMed:24285636). Required for the proper localization of PTPRQ and RDX to the stereocilium base during postnatal maturation of hair bundles (PubMed:24285636). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions (By similarity). Required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (By similarity). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (PubMed:29425878).CATALYTIC ACTIVITY Na(+)(in) = Na(+)(out)CATALYTIC ACTIVITY K(+)(in) = K(+)(out)CATALYTIC ACTIVITY chloride(in) = chloride(out)ACTIVITY REGULATION Inhibited by F-actin.SUBUNIT Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1 (By similarity). Interacts with AKAP9 (By similarity). Interacts with TPRN (PubMed:37952086). TPRN, CLIC5 and PTPQR form concentric rings at the base of stereocilia and may form a complex (PubMed:37952086). Interacts with EZR, MYO6 and RDX; the proteins may work together as a complex to stabilize linkages between the plasma membrane and subjacent actin cytoskeleton at the stereocilium base (PubMed:24285636).SUBCELLULAR LOCATION Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome (By similarity). Associates with the cortical actin cytoskeleton (By similarity). Localizes to the apical region of cochlear hair cells, at the base of the actin-rich hair bundle (PubMed:17021174). Colocalizes with podocalyxin at the apical cell membrane in renal glomeruli (By similarity). May localize to the centrosome in lens epithelial cells (PubMed:29425878). Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity).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) (PubMed:17021174). Also detected in the eye, where it localizes to lens fiber cells in the lens epithelium (at protein level) (PubMed:29425878).DOMAIN The active G-site contains a monothiol Cys-X-X-Ser motif which mediates glutathione-dependent redox catalysis.DOMAIN Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as a chloride channel. The redox status of the active cysteine in Cys-X-X-Cys/Ser motif likely determines the capacity to adopt a soluble or membrane-inserted state. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).DISEASE Defects in Clic5 are a cause of the jitterbug (jbg) phenotype (PubMed:17021174, PubMed:24285636). Jbg is the result of a spontaneous mutation that leads to severe degeneration of the organ of Corti in the inner ear (PubMed:17021174). Jbg leads to progressive degeneration of inner ear hair cells (PubMed:17021174, PubMed:24285636). Affected mice are identified by head bobbing, circling behavior and their inability to swim (PubMed:17021174). They cannot hear well when young, and become completely deaf after 5 months (PubMed:17021174). In addition, there are eye defects with aberrant development of the lens suture and formation of lens opacities (PubMed:29425878).SIMILARITY Belongs to the chloride channel CLIC family. |
| created | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 |
| description | recommendedName: Chloride intracellular channel protein 5 alternativeName: fullName evidence="2"Glutaredoxin-like oxidoreductase CLIC5 ecNumber evidence="2"1.8.-.- |
| geneName | Clic5 |
| identifier | Q8BXK9 |
| isSequenceChanged | FALSE |
| keyword | Cell membrane Cell projection Chloride Chloride channel Cytoplasm Cytoskeleton Golgi apparatus Hearing Ion channel Ion transport Membrane Mitochondrion Oxidoreductase Reference proteome Sensory transduction Transmembrane Transmembrane helix Transport Vision Voltage-gated channel |
| modified | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:3445779] Weiser, JD [InstanceEdit:4341137] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9645038] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 |
| name | Clic5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | CLIC5_MOUSE Q3U0H8 |
| sequenceLength | 251 |
| species | [Species:48892] Mus musculus |
| (referenceEntity) | [EntityWithAccessionedSequence:9670541] Clic5 [plasma membrane] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q8BXK9 Clic5 (145591)
