InnateDB Protein
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IDBP-593297.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CLNS1A
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Protein Name
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chloride channel, nucleotide-sensitive, 1A
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Synonyms
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CLCI; CLNS1B; ICln;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434311
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InnateDB Gene
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IDBG-65661 (CLNS1A)
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Protein Structure
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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:0000269PubMed:10330151, ECO:0000269PubMed:11713266, ECO:0000269PubMed:18984161}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000269PubMed:18984161}. Nucleus {ECO:0000269PubMed:18984161}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:18984161}. Note=A small fraction is also associated with the cytoskeleton.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 94 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
94
[view]
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Protein-Protein |
93
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003521
ICln
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PFAM |
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PRINTS |
PR01348
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P54105
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PhosphoSite |
PhosphoSite-P54105
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TrEMBL |
Q9P1H0
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UniProt Splice Variant |
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Entrez Gene |
1207
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UniGene |
Hs.656608
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RefSeq |
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HUGO |
HGNC:2080
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OMIM |
602158
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CCDS |
CCDS8252
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HPRD |
03694
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IMGT |
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EMBL |
AF005422
AF026003
AF116664
AF232224
AF232225
AF232708
AK315259
BC119634
BC119635
BT019907
U17899
U53454
X91788
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GenPept |
AAB03316
AAB61444
AAB88806
AAC50111
AAF71084
AAF76858
AAF76859
AAF76861
AAI19635
AAI19636
AAV38710
BAG37676
CAA62902
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