Gene Symbol |
CLIC5
|
Entrez Gene |
53405
|
Alt Symbol |
DFNB102, DFNB103, MST130, MSTP130
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
chloride intracellular channel 5
|
Other Description |
chloride intracellular channel protein 5
|
Swissprots |
Q9BWZ0 Q5T4Z0 Q9NZA1 Q96JT5 Q8NBY3 B3KUF1
|
Accessions |
CAF86413 CAF86432 EAX04285 EAX04286 EAX04287 Q9NZA1 AF086005 AF176920 AAQ13664 AF216941 AAF66928 AJ420547 AK025350 AK075144 BAC11432 AK075163 BAC11444 AK097048 BAG53413 AK222544 BAD96264 AK223130 BAD96850 AK314416 BAG37037 AL049313 AY032602 AAK52083 BC020923 AAH20923 BC035968 AAH35968 BC039380 AAH39380 BI559571 BP369816 BQ184144 DA843541 DQ679794 ABG46342 DQ892643 ABM83569 DQ895881 ABM86807 XM_011514692 XP_011512994 XM_011514693 XP_011512995 XM_011514694 XP_011512996 XM_011514695 XP_011512997 XR_926257 XR_926258 XR_926259 NM_001114086 NP_001107558 NM_001256023 NP_001242952 NM_016929 NP_058625 NR_045672 NR_045673 NR_045674
|
Function |
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). 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. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). {ECO:0000250|UniProtKB:Q8BXK9, ECO:0000269|PubMed:15184393, ECO:0000269|PubMed:18028448, ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}.
|
Subcellular Location |
Isoform 1: Cytoplasm, cell cortex {ECO:0000269|PubMed:15184393}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15184393}. Membrane {ECO:0000269|PubMed:15184393}; Single-pass membrane protein {ECO:0000269|PubMed:15184393}. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250}.
|
Tissue Specificity |
Widely expressed in both fetal and adult human tissues (PubMed:24781754). Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level). {ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}.
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