CLNS1A, CLCI, ICLN, Methylosome subunit pICln, Chloride channel, nucleotide sensitive 1A, Chloride conductance regulatory protein ICln, I(Cln), Chloride ion current inducer protein, ClCI, Reticulocyte pICln
This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015],function:The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the pICln family.,subcellular location:A small fraction is also associated with the cytoskeleton.,subunit:Homooligomer. Component of the methylosome, a 20S complex containing SKB1. Interacts with Sm proteins.,
