Predicted to enable RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol and nucleus. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Implicated in hepatocellular carcinoma; hypotrichosis 1; hypotrichosis 11; and lupus nephritis. Biomarker of acute lymphoblastic leukemia; lung adenocarcinoma; nasopharynx carcinoma; neuroblastoma; and prostate cancer.
RGD Description
The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]