Aliases for PRPF31 Gene
External Ids for PRPF31 Gene
Previous HGNC Symbols for PRPF31 Gene
Previous GeneCards Identifiers for PRPF31 Gene
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
GeneCards Summary for PRPF31 Gene
PRPF31 (Pre-MRNA Processing Factor 31) is a Protein Coding gene. Diseases associated with PRPF31 include Retinitis Pigmentosa 11 and Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include snRNP binding.
UniProtKB/Swiss-Prot Summary for PRPF31 Gene
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543).