PRPF31

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
File:PBB Protein PRPF31 image.jpg PDB rendering based on 2ozb.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2ozb​
Identifiers
Symbols	PRPF31 ; DKFZp566J153; NY-BR-99; PRP31; RP11
External IDs	Template:OMIM5 Template:MGI HomoloGene: 5980
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a human gene.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For further background and phenotypic information on RP, see MIM 268000.[supplied by OMIM]

Further reading

• Tarizzo ML (1975). "The World Health Organization and the prevention of blindness". Transactions. Section on Ophthalmology. American Academy of Ophthalmology and Otolaryngology. 79 (3 Pt 2): OP453–6. PMID 1154573.
• al-Maghtheh M, Inglehearn CF, Keen TJ; et al. (1994). "Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19". Hum. Mol. Genet. 3 (2): 351–4. PMID 8004108.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Al-Maghtheh M, Vithana E, Tarttelin E; et al. (1996). "Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype". Am. J. Hum. Genet. 59 (4): 864–71. PMID 8808602.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.CS1 maint: Multiple names: authors list (link)
• Wiemann S, Weil B, Wellenreuther R; et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simpson JC, Wellenreuther R, Poustka A; et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vithana EN, Abu-Safieh L, Allen MJ; et al. (2001). "A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)". Mol. Cell. 8 (2): 375–81. PMID 11545739.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Makarova OV, Makarov EM, Liu S; et al. (2002). "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. 21 (5): 1148–57. doi:10.1093/emboj/21.5.1148. PMID 11867543.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deery EC, Vithana EN, Newbold RJ; et al. (2003). "Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31". Hum. Mol. Genet. 11 (25): 3209–19. PMID 12444105.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Martínez-Gimeno M, Gamundi MJ, Hernan I; et al. (2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 44 (5): 2171–7. PMID 12714658.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scanlan MJ, Gout I, Gordon CM; et al. (2003). "Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression". Cancer Immun. 1: 4. PMID 12747765.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wang L, Ribaudo M, Zhao K; et al. (2003). "Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family". Am. J. Med. Genet. A. 121 (3): 235–9. doi:10.1002/ajmg.a.20224. PMID 12923864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reuter TY, Medhurst AL, Waisfisz Q; et al. (2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Exp. Cell Res. 289 (2): 211–21. PMID 14499622.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vithana EN, Abu-Safieh L, Pelosini L; et al. (2003). "Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?". Invest. Ophthalmol. Vis. Sci. 44 (10): 4204–9. PMID 14507862.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grimwood J, Gordon LA, Olsen A; et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xia K, Zheng D, Pan Q; et al. (2004). "A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa". Mol. Vis. 10: 361–5. PMID 15162096.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schaffert N, Hossbach M, Heintzmann R; et al. (2005). "RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies". EMBO J. 23 (15): 3000–9. doi:10.1038/sj.emboj.7600296. PMID 15257298.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)