CLIC5
entrez
53405
canonical
uniprot
Q9NZA1
canonical
ensembl
ENSG00000112782
resolver
ensp
ENSP00000185206
resolver
ensp
ENSP00000344165
resolver
ensp
ENSP00000439195
resolver
ensp
ENSP00000496359
resolver
ensp
ENSP00000677574
resolver
ensp
ENSP00000714075
resolver
enst
ENST00000642250
resolver
genesymbol
CLIC5
resolver
hgnc
HGNC:13517
resolver
uniprot
A0A2R8YGW2
resolver
uniprot
B3KUF1
resolver
uniprot
Q49AE1
resolver
uniprot
Q53G01
resolver
uniprot
Q5T4Z0
resolver
uniprot
Q8NBY3
resolver
uniprot
Q96JT5
resolver
uniprot
Q9BWZ0
resolver
uniprot_entry
A0A2R8YGW2_HUMAN
resolver
uniprot_entry
CLIC5_HUMAN
resolver
uniprot_entry
Q49AE1_HUMAN
resolver
uniprot_entry
Q53G01_HUMAN
resolver
uniprot_sec
B3KUF1
resolver
uniprot_sec
Q5T4Z0
resolver
uniprot_sec
Q8NBY3
resolver
uniprot_sec
Q96JT5
resolver
uniprot_sec
Q9BWZ0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by F-actin. {ECO:0000269|PubMed:18028448}.
uniprot
proteins
amino_acid_sequence
MNDEDYSTIYDTIQNERTYEVPDQPEENESPHYDDVHEYLRPENDLYATQLNTHEYDFVSVYTIKGEETSLASVQSEDRGYLLPDEIYSELQEAHPGEPQEDRGISMEGLYSSTQDQQLCAAELQENGSVMKEDLPSPSSFTIQHSKAFSTTKYSCYSDAEGLEEKEGAHMNPEIYLFVKAGIDGESIGNCPFSQRLFMILWLKGVVFNVTTVDLKRKPADLHNLAPGTHPPFLTFNGDVKTDVNKIEEFLEETLTPEKYPKLAAKHRESNTAGIDIFSKFSAYIKNTKQQNNAALERGLTKALKKLDDYLNTPLPEEIDANTCGEDKGSRRKFLDGDELTLADCNLLPKLHVVKIVAKKYRNYDIPAEMTGLWRYLKNAYARDEFTNTCAADSEIELAYADVAKRLSRS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 103 (DFNB103) [MIM:616042]: A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. {ECO:0000269|PubMed:24781754}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.8.-.-
uniprot
proteins
function
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(-) (PubMed:15184393, PubMed:18028448). Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity). {ECO:0000250|UniProtKB:O00299, ECO:0000250|UniProtKB:Q8BXK9, ECO:0000269|PubMed:15184393, ECO:0000269|PubMed:18028448, ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}.
uniprot
proteins
mass_dalton
46503
uniprot
proteins
protein_family
Chloride channel CLIC family
uniprot
proteins
pubmed
10793131
uniprot
proteins
pubmed
12163479
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15184393
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18028448
uniprot
proteins
pubmed
20335315
uniprot
proteins
pubmed
24285636
uniprot
proteins
pubmed
24781754
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10793131, ECO:0000269|PubMed:15184393}. Cytoplasm, cell cortex {ECO:0000269|PubMed:15184393}. Membrane {ECO:0000269|PubMed:15184393, ECO:0000305|PubMed:18028448}; Single-pass membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000269|PubMed:20335315}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:O00299}. Mitochondrion {ECO:0000250|UniProtKB:Q9EPT8}. Cell projection, stereocilium {ECO:0000269|PubMed:24285636}. Note=Associates with the cortical actin cytoskeleton (PubMed:10793131, PubMed:15184393). Localizes to the apical region of cochlear hair cells, at the base of the actin-rich hair bundle (By similarity). Colocalizes with podocalyxin at the apical cell membrane in renal glomeruli (PubMed:20335315). May localize to the centrosome in lens epithelial cells (By similarity). Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250|UniProtKB:O00299, ECO:0000250|UniProtKB:Q8BXK9, ECO:0000250|UniProtKB:Q9EPT8, ECO:0000269|PubMed:10793131, ECO:0000269|PubMed:15184393, ECO:0000269|PubMed:20335315}.; SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus {ECO:0000269|PubMed:12163479}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12163479}. Note=Colocalizes with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. {ECO:0000269|PubMed:12163479}.
uniprot
proteins
transmembrane_region
TRANSMEM 193..213; /note="Helical; Note=After insertion into the membrane"; /evidence="ECO:0000255
uniprot
proteins