Aliases for SNRNP200 Gene
External Ids for SNRNP200 Gene
Previous HGNC Symbols for SNRNP200 Gene
Previous GeneCards Identifiers for SNRNP200 Gene
Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]
GeneCards Summary for SNRNP200 Gene
SNRNP200 (Small Nuclear Ribonucleoprotein 200kDa (U5)) is a Protein Coding gene. Diseases associated with SNRNP200 include snrnp200-related retinitis pigmentosa and retinitis pigmentosa 33. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is POLN.
UniProtKB/Swiss-Prot for SNRNP200 Gene
RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.