Sequence in raw or FASTA format:
CLCN5 chloride channel, voltage-sensitive 5 [Homo sapiens (human)]
|Entrez Gene ID||1184|
|Full Name||chloride channel, voltage-sensitive 5|
|Synonyms||CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].|
Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3);
|REACT_15518||Transmembrane transport of small molecules|
|REACT_25300||Ion channel transport|
|Homo sapiens (human)||CLCN5||NP_001121371.1|
|Pan troglodytes (chimpanzee)||CLCN5||XP_003317509.2|
|Macaca mulatta (Rhesus monkey)||CLCN5||XP_001083186.2|
|Canis lupus familiaris (dog)||CLCN5||XP_005641410.1|
|Bos taurus (cattle)||CLCN5||XP_005228237.1|
|Mus musculus (house mouse)||Clcn5||NP_001230691.1|
|Rattus norvegicus (Norway rat)||Clcn5||NP_058802.1|
|Gallus gallus (chicken)||CLCN5||XP_004940778.1|
|Danio rerio (zebrafish)||si:dkey-22f5.8||XP_001920783.2|
|Danio rerio (zebrafish)||LOC557584||XP_685762.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||clcn5||NP_001039210.1|
|GO:0034220||ion transmembrane transport||TAS|
|GO:0044070||regulation of anion transport||IEA|
|GO:1902476||chloride transmembrane transport||TAS|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0045177||apical part of cell||IDA|
|GO:0005247||voltage-gated chloride channel activity||IEA|
|GO:0005254||chloride channel activity||TAS|
|UniProt||B3KRR2, P51795, V9GYG7, A8K4H5|
What is the normal function of the CLCN5 gene?
The CLCN5 gene provides instructions for making a protein called ClC-5 that transports charged atoms (ions) across cell membranes. Specifically, ClC-5 exchanges negatively charged atoms of chlorine (chloride ions) for positively charged atoms of hydrogen (protons or hydrogen ions). Based on this function, ClC-5 is known as a H+/Cl- exchanger.
ClC-5 is found primarily in the kidneys, particularly in structures called proximal tubules. These structures help to reabsorb nutrients, water, and other materials that have been filtered from the bloodstream. The kidneys reabsorb needed materials into the blood and excrete everything else into the urine.
Within proximal tubule cells, ClC-5 is embedded in specialized compartments called endosomes. Endosomes are formed at the cell surface to carry proteins and other molecules to their destinations within the cell. ClC-5 transports hydrogen ions into endosomes and chloride ions out, which helps these compartments maintain the proper acidity level (pH). Endosomal pH levels must be tightly regulated for proximal tubule cells to function properly.
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