CLCC1
entrez
23155
canonical
uniprot
Q96S66
canonical
ensembl
ENSG00000121940
resolver
ensp
ENSP00000337243
resolver
ensp
ENSP00000349456
resolver
ensp
ENSP00000358986
resolver
ensp
ENSP00000501777
resolver
ensp
ENSP00000502042
resolver
ensp
ENSP00000502457
resolver
ensp
ENSP00000508563
resolver
ensp
ENSP00000508570
resolver
ensp
ENSP00000509218
resolver
ensp
ENSP00000509451
resolver
ensp
ENSP00000509584
resolver
ensp
ENSP00000510137
resolver
ensp
ENSP00000510352
resolver
ensp
ENSP00000510524
resolver
ensp
ENSP00000510675
resolver
ensp
ENSP00000510715
resolver
ensp
ENSP00000547133
resolver
enst
ENST00000675247
resolver
genesymbol
CLCC1
resolver
genesymbol_syn
KIAA0761
resolver
genesymbol_syn
MCLC
resolver
hgnc
HGNC:29675
resolver
uniprot
A0A6Q8PG14
resolver
uniprot
O94861
resolver
uniprot
Q8WYP8
resolver
uniprot
Q8WYP9
resolver
uniprot
Q9BU25
resolver
uniprot_entry
A0A6Q8PG14_HUMAN
resolver
uniprot_entry
CLCC1_HUMAN
resolver
uniprot_sec
O94861
resolver
uniprot_sec
Q8WYP8
resolver
uniprot_sec
Q8WYP9
resolver
uniprot_sec
Q9BU25
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by ER lumenal Ca(2+). {ECO:0000269|PubMed:37142673}.
uniprot
proteins
amino_acid_sequence
MLCSLLLCECLLLVAGYAHDDDWIDPTDMLNYDAASGTMRKSQAKYGISGEKDVSPDLSCADEISECYHKLDSLTYKIDECEKKKREDYESQSNPVFRRYLNKILIEAGKLGLPDENKGDMHYDAEIILKRETLLEIQKFLNGEDWKPGALDDALSDILINFKFHDFETWKWRFEDSFGVDPYNVLMVLLCLLCIVVLVATELWTYVRWYTQLRRVLIISFLFSLGWNWMYLYKLAFAQHQAEVAKMEPLNNVCAKKMDWTGSIWEWFRSSWTYKDDPCQKYYELLLVNPIWLVPPTKALAVTFTTFVTEPLKHIGKGTGEFIKALMKEIPALLHLPVLIIMALAILSFCYGAGKSVHVLRHIGGPESEPPQALRPRDRRRQEEIDYRPDGGAGDADFHYRGQMGPTEQGPYAKTYEGRREILRERDVDLRFQTGNKSPEVLRAFDVPDAEAREHPTVVPSHKSPVLDTKPKETGGILGEGTPKESSTESSQSAKPVSGQDTSGNTEGSPAAEKAQLKSEAAGSPDQGSTYSPARGVAGPRGQDPVSSPCG
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 32 (RP32) [MIM:609913]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP32 inheritance is autosomal recessive. {ECO:0000269|PubMed:16189710, ECO:0000269|PubMed:30157172, ECO:0000269|PubMed:37142673}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Rare variants in CLCC1 may be associated with amyotrophic lateral sclerosis. {ECO:0000269|PubMed:37142673}.
uniprot
proteins
function
FUNCTION: Anion-selective channel with Ca(2+)-dependent and voltage-independent gating. Permeable to small monovalent anions with selectivity for bromide > chloride > nitrate > fluoride (By similarity). Operates in the endoplasmic reticulum (ER) membrane where it mediates chloride efflux to compensate for the loss of positive charges from the ER lumen upon Ca(2+) release. Contributes to the maintenance of ER Ca(2+) pools and activation of unfolded protein response to prevent accumulation of misfolded proteins in the ER lumen. Particularly involved in ER homeostasis mechanisms underlying motor neurons and retinal photoreceptors survival (By similarity) (PubMed:25698737, PubMed:30157172, PubMed:37142673). {ECO:0000250|UniProtKB:Q99LI2, ECO:0000269|PubMed:25698737, ECO:0000269|PubMed:30157172, ECO:0000269|PubMed:37142673}.
uniprot
proteins
mass_dalton
62023
uniprot
proteins
mutagenesis
MUTAGEN 152; /note="D->R: Does not affect Ca(2+) binding; when associated with R-153."; /evidence="ECO:0000269|PubMed:37142673"; MUTAGEN 153; /note="D->R: Does not affect Ca(2+) binding; when associated with R-152."; /evidence="ECO:0000269|PubMed:37142673"; MUTAGEN 175; /note="E->R: Decreases the affinity for Ca(2+); when associated with R-176."; /evidence="ECO:0000269|PubMed:37142673"; MUTAGEN 176; /note="D->R: Decreases the affinity for Ca(2+); when associated with R-175."; /evidence="ECO:0000269|PubMed:37142673"; MUTAGEN 181; /note="D->R: Impairs Ca(2+) binding relieving Ca(2+)-dependent inhibition of channel activity; when associated with R-25."; /evidence="ECO:0000269|PubMed:37142673
uniprot
proteins
protein_family
Chloride channel MCLC family
uniprot
proteins
pubmed
11279057
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16189710
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25698737
uniprot
proteins
pubmed
30157172
uniprot
proteins
pubmed
31653868
uniprot
proteins
pubmed
37142673
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25698737, ECO:0000269|PubMed:30157172, ECO:0000269|PubMed:31653868, ECO:0000269|PubMed:37142673}; Multi-pass membrane protein {ECO:0000255}. Note=Within the endoplasmic reticulum (ER), localizes to the mitochondria-associated ER membrane, a zone of contact between the ER and mitochondrial membranes. Enriched in the rough ER. {ECO:0000250|UniProtKB:Q99LI2, ECO:0000269|PubMed:31653868}.
uniprot
proteins
transmembrane_region
TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 330..350; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins