Gene Symbol: Prpf31
Description: pre-mRNA processing factor 31
Alias: 1500019O16Rik, 2810404O06Rik, AW554706, PRP31, RP11, U4/U6 small nuclear ribonucleoprotein Prp31, PRP31 pre-mRNA processing factor 31 homolog, U4/U6 snRNP 61 kDa protein, protein 61K
Makarova O, Makarov E, Liu S, Vornlocher H, Luhrmann R. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J. 2002;21:1148-57 pubmed
..Immunodepletion of protein 61K from HeLa nuclear extracts inhibits tri-snRNP formation and subsequent spliceosome assembly and pre-mRNA ..
Bujakowska K, Maubaret C, Chakarova C, Tanimoto N, Beck S, Fahl E, et al
. Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci. 2009;50:5927-33 pubmed publisher
Pre-mRNA processing factor 31 (PRPF31) is a ubiquitous protein needed for the assembly of the pre-mRNA splicing machinery...
Graziotto J, Farkas M, Bujakowska K, Deramaudt B, Zhang Q, Nandrot E, et al
. Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci. 2011;52:190-8 pubmed publisher
..The retinal ultrastructure of Prpf31-knockout mice was also investigated...
Wang T, Gu S, Ronni T, Du Y, Chen X. In vivo dual-tagging proteomic approach in studying signaling pathways in immune response. J Proteome Res. 2005;4:941-9 pubmed
..This integrated approach provides global information on the functional link between MyD88 and other proteins in transducing the TLR-mediated signal and is generally applicable to in vivo analyses of other signaling pathways. ..
Mordes D, Yuan L, Xu L, Kawada M, Molday R, Wu J. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiol Dis. 2007;26:291-300 pubmed
..pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP), including PRPF31, PRPF3 and PRPF8...
Cao H, Wu J, Lam S, Duan R, Newnham C, Molday R, et al
. Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PLoS ONE. 2011;6:e15860 pubmed publisher
Genetic mutations in several ubiquitously expressed RNA splicing genes such as PRPF3, PRP31 and PRPC8, have been found to cause retina-specific diseases in humans...
Ganesh K, Adam S, Taylor B, Simpson P, Rada C, Neuberger M. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. J Biol Chem. 2011;286:17091-102 pubmed publisher
..mediated by recognition of the NLS of the CDC5L component of the complex and show that CTNNBL1 also interacts with Prp31 (another U4/U6.U5 tri-snRNP-associated splicing factor) through its NLS...
Farkas M, Lew D, Sousa M, Bujakowska K, Chatagnon J, Bhattacharya S, et al
. Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol. 2014;184:2641-52 pubmed publisher
Mutations in the ubiquitously expressed pre-mRNA processing factors 3, 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration...
Yuan L, Kawada M, Havlioglu N, Tang H, Wu J. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. J Neurosci. 2005;25:748-57 pubmed
Mutations in human PRPF31 gene have been identified in patients with autosomal dominant retinitis pigmentosa (adRP)...