Aliases: NMP200, PRP19, PSO4, SNEV, UBOX4, hPSO4
Chromosome No: 11
Chromosome Band: 11q12.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 3
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 2
Evidence score: 3
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Relevance to Autism
Li et al., 2023 reported six unrelated individuals with de novo heterozygous PRPF19 variants, four of whom had a formal diagnosis of autism; subsequent functional analysis of two PRPF19 missense variants identified in individuals with autism (p.Gly404Ser and p.Leu499Phe) in Drosophila rescue assays demonstrated that both variants led to social behavior deficits in flies. Additional de novo coding variants in this gene, including two de novo missense variants, had previously been identiifed in ASD probands (Lim et al., 2017; Zhou et al., 2022).
Molecular Function
Enables identical protein binding activity and ubiquitin-ubiquitin ligase activity. Involved in several processes, including DNA damage checkpoint signaling; cellular protein metabolic process; and mRNA splicing, via spliceosome. Acts upstream of or within protein polyubiquitination. Located in cytoplasm; nuclear speck; and site of double-strand break. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Colocalizes with DNA replication factor A complex.
External Links
