| Gene Symbol | CLNS1A |
|---|---|
| Entrez Gene | 1207 |
| Alt Symbol | CLCI, CLNS1B, ICln |
| Species | Human |
| Gene Type | protein-coding |
| Description | chloride channel, nucleotide-sensitive, 1A |
| Other Description | chloride channel regulatory protein|chloride channel, nucleotide sensitive 1A|chloride conductance regulatory protein ICln|chloride ion current inducer protein|i(Cln)|methylosome subunit pICln|reticulocyte pICln|reticulocyte protein ICln |
| Swissprots | P54105 Q9NRD3 B2RCS9 Q9NRD2 Q0VDK6 |
| Accessions | AAF76858 AAF76859 AAF76861 EAW75032 P54105 AA757599 AF005422 AAB61444 AF026003 AAB88806 AK315259 BAG37676 BC119634 AAI19635 BC119635 AAI19636 BT019907 AAV38710 DA004269 U17899 AAC50111 U53454 AAB03316 X91788 CAA62902 NM_001293 NP_001284 |
| Function | Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway. {ECO:0000269|PubMed:10330151, ECO:0000269|PubMed:11713 |
| Subcellular Location | Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:18984161}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18984161}. Note=A small fraction is also associated with the cytoskeleton. |
| Top Pathways | RNA transport |