CLNS1A
Description
The CLNS1A (chloride nucleotide-sensitive channel 1A) is a protein-coding gene located on chromosome 11.
Methylosome subunit pICln is a protein that in humans is encoded by the CLNS1A gene. CLNS1A has been shown to interact with: ITGA2B, PRMT5, SNRPD1, and SNRPD3.
CLNS1A is involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins. It acts as a chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), which are essential for splicing cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins (SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG) that assemble into a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). 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, which controls the assembly of the core snRNP. Dissociation of CLNS1A from the trapped Sm proteins by the SMN complex and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.
CLNS1A is also known as CLCI, CLNS1B, ICln.
Associated Diseases
- Alzheimer disease
- multiple sclerosis
- Parkinson disease
- lysosomal storage disease
- malignant glioma
- cancer
- breast cancer
