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U5 spliceosomal RNA
RNA family From Wikipedia, the free encyclopedia
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U5 snRNA is a small nuclear RNA (snRNA) that participates in RNA splicing as a component of the spliceosome. It forms the U5 snRNP (small nuclear ribonucleoprotein) by associating with several proteins including Prp8 - the largest and most conserved protein in the spliceosome, Brr2 - a helicase required for spliceosome activation, Snu114, and the 7 Sm proteins.[1] U5 snRNA forms a coaxially-stacked series of helices that project into the active site of the spliceosome.[2][3] Loop 1, which caps this series of helices, forms 4-5 base pairs with the 5'-exon during the two chemical reactions of splicing.[4][5] This interaction appears to be especially important during step two of splicing, exon ligation.[6]
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Medical relevance
Specific heterozygous variants in RNU5B-1, a gene that encodes one of the functional homologs of U5 spliceosomal RNA in humans, cause an autosomal dominant Neurodevelopmental disorder with seizures and joint laxity (OMIM 621090) also called RNU5B-1 syndrome[7].
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