CLCN4
entrez
1183
canonical
uniprot
P51793
canonical
ensembl
ENSG00000073464
resolver
ensp
ENSP00000370213
resolver
ensp
ENSP00000501922
resolver
genesymbol
CLCN4
resolver
hgnc
HGNC:2022
resolver
uniprot
A1L3U1
resolver
uniprot
B7Z5Z4
resolver
uniprot
Q9UBU1
resolver
uniprot_entry
CLCN4_HUMAN
resolver
uniprot_sec
A1L3U1
resolver
uniprot_sec
B7Z5Z4
resolver
uniprot_sec
Q9UBU1
resolver
amino_acid_sequence
MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEFIKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWALLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSSLFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRRKTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDPNMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAGRMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSKWVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVMRPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKNARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKLGLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN
uniprot
proteins
disease_involvement
DISEASE: Raynaud-Claes syndrome (MRXSRC) [MIM:300114]: An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. {ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:25644381, ECO:0000269|PubMed:27550844}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:23647072, PubMed:25644381, PubMed:27550844, PubMed:28972156). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874). {ECO:0000269|PubMed:18063579, ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:25644381, ECO:0000269|PubMed:27550844, ECO:0000269|PubMed:28972156, ECO:0000303|PubMed:29845874}.
uniprot
proteins
mass_dalton
84917
uniprot
proteins
mutagenesis
MUTAGEN 224; /note="E->A: Restores chloride translocation, but not proton transport; when associated with A-281."; /evidence="ECO:0000269|PubMed:18063579"; MUTAGEN 281; /note="E->A: Abolishes translocation of protons and chloride ions."; /evidence="ECO:0000269|PubMed:18063579
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
protein_family
ClC-4/CLCN4 subfamily
uniprot
proteins
pubmed
10564087
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17023393
uniprot
proteins
pubmed
18063579
uniprot
proteins
pubmed
23647072
uniprot
proteins
pubmed
25644381
uniprot
proteins
pubmed
26034137
uniprot
proteins
pubmed
27550844
uniprot
proteins
pubmed
28972156
uniprot
proteins
pubmed
29845874
uniprot
proteins
pubmed
8069296
uniprot
proteins
sequence_length
760
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000250|UniProtKB:P51794}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:28972156}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17023393, ECO:0000269|PubMed:28972156}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:28972156}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000269|PubMed:28972156}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to late endosome membrane, lysosome membrane and recycling endosome membrane in the presence of CLCN3. {ECO:0000269|PubMed:28972156}.
uniprot
proteins
transmembrane_region
TRANSMEM 68..105; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 151..174; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 200..218; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 224..243; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 291..309; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 333..358; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 365..385; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 442..462; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 467..486; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 548..566; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523
uniprot
proteins