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PRPF8

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene.{{cite journal | vauthors = McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF | title = Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) | journal = Human Molecular Genetics | volume = 10 | issue = 15 | pages = 1555–62 | date = Jul 2001 | pmid = 11468273 | doi = 10.1093/hmg/10.15.1555 | doi-access = }}{{cite journal | vauthors = Luo HR, Moreau GA, Levin N, Moore MJ | title = The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes | journal = RNA | volume = 5 | issue = 7 | pages = 893–908 | date = Jul 1999 | pmid = 10411133 | pmc = 1369814 | doi = 10.1017/S1355838299990520 }}

Function

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa.{{cite web | title = Entrez Gene: PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10594}}

Interactions

PRPF8 has been shown to interact with WDR57{{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}{{cite journal | vauthors = Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R | title = The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6756–66 | date = Nov 1998 | pmid = 9774689 | pmc = 109259 | doi=10.1128/mcb.18.11.6756}} and EFTUD2.

References

{{Reflist}}

Further reading

{{Refbegin | 2}}

  • {{cite journal | vauthors = Grainger RJ, Beggs JD | title = Prp8 protein: at the heart of the spliceosome | journal = RNA | volume = 11 | issue = 5 | pages = 533–57 | date = May 2005 | pmid = 15840809 | pmc = 1370742 | doi = 10.1261/rna.2220705 }}
  • {{cite journal | vauthors = Garcia-Blanco MA, Anderson GJ, Beggs J, Sharp PA | title = A mammalian protein of 220 kDa binds pre-mRNAs in the spliceosome: a potential homologue of the yeast PRP8 protein | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 87 | issue = 8 | pages = 3082–6 | date = Apr 1990 | pmid = 2139226 | pmc = 53838 | doi = 10.1073/pnas.87.8.3082 | bibcode = 1990PNAS...87.3082G | doi-access = free }}
  • {{cite journal | vauthors = Pinto AL, Steitz JA | title = The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 86 | issue = 22 | pages = 8742–6 | date = Nov 1989 | pmid = 2479028 | pmc = 298364 | doi = 10.1073/pnas.86.22.8742 | bibcode = 1989PNAS...86.8742P | doi-access = free }}
  • {{cite journal | vauthors = Bach M, Winkelmann G, Lührmann R | title = 20S small nuclear ribonucleoprotein U5 shows a surprisingly complex protein composition | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 86 | issue = 16 | pages = 6038–42 | date = Aug 1989 | pmid = 2527369 | pmc = 297770 | doi = 10.1073/pnas.86.16.6038 | bibcode = 1989PNAS...86.6038B | doi-access = free }}
  • {{cite journal | vauthors = Anderson GJ, Bach M, Lührmann R, Beggs JD | title = Conservation between yeast and man of a protein associated with U5 small nuclear ribonucleoprotein | journal = Nature | volume = 342 | issue = 6251 | pages = 819–21 | date = Dec 1989 | pmid = 2532307 | doi = 10.1038/342819a0 | bibcode = 1989Natur.342..819A | s2cid = 977768 }}
  • {{cite journal | vauthors = Umen JG, Guthrie C | title = Prp16p, Slu7p, and Prp8p interact with the 3' splice site in two distinct stages during the second catalytic step of pre-mRNA splicing | journal = RNA | volume = 1 | issue = 6 | pages = 584–97 | date = Aug 1995 | pmid = 7489518 | pmc = 1369303 }}
  • {{cite journal | vauthors = Goliath R, Shugart Y, Janssens P, Weissenbach J, Beighton P, Ramasar R, Greenberg J | title = Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p | journal = American Journal of Human Genetics | volume = 57 | issue = 4 | pages = 962–5 | date = Oct 1995 | pmid = 7573060 | pmc = 1801525 }}
  • {{cite journal | vauthors = Greenberg J, Goliath R, Beighton P, Ramesar R | title = A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17 | journal = Human Molecular Genetics | volume = 3 | issue = 6 | pages = 915–8 | date = Jun 1994 | pmid = 7951236 | doi = 10.1093/hmg/3.6.915 }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors = Kojis TL, Heinzmann C, Flodman P, Ngo JT, Sparkes RS, Spence MA, Bateman JB, Heckenlively JR | title = Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa | journal = American Journal of Human Genetics | volume = 58 | issue = 2 | pages = 347–55 | date = Feb 1996 | pmid = 8571961 | pmc = 1914553 }}
  • {{cite journal | vauthors = Reyes JL, Kois P, Konforti BB, Konarska MM | title = The canonical GU dinucleotide at the 5' splice site is recognized by p220 of the U5 snRNP within the spliceosome | journal = RNA | volume = 2 | issue = 3 | pages = 213–25 | date = Mar 1996 | pmid = 8608445 | pmc = 1369364 }}
  • {{cite journal | vauthors = Hinz M, Moore MJ, Bindereif A | title = Domain analysis of human U5 RNA. Cap trimethylation, protein binding, and spliceosome assembly | journal = The Journal of Biological Chemistry | volume = 271 | issue = 31 | pages = 19001–7 | date = Aug 1996 | pmid = 8702566 | doi = 10.1074/jbc.271.31.19001 | doi-access = free }}
  • {{cite journal | vauthors = Chiara MD, Palandjian L, Feld Kramer R, Reed R | title = Evidence that U5 snRNP recognizes the 3' splice site for catalytic step II in mammals | journal = The EMBO Journal | volume = 16 | issue = 15 | pages = 4746–59 | date = Aug 1997 | pmid = 9303319 | pmc = 1170101 | doi = 10.1093/emboj/16.15.4746 }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R | title = The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6756–66 | date = Nov 1998 | pmid = 9774689 | pmc = 109259 | doi = 10.1128/mcb.18.11.6756}}
  • {{cite journal | vauthors = Reyes JL, Gustafson EH, Luo HR, Moore MJ, Konarska MM | title = The C-terminal region of hPrp8 interacts with the conserved GU dinucleotide at the 5' splice site | journal = RNA | volume = 5 | issue = 2 | pages = 167–79 | date = Feb 1999 | pmid = 10024169 | pmc = 1369749 | doi = 10.1017/S1355838299981785 }}
  • {{cite journal | vauthors = Makarov EM, Makarova OV, Achsel T, Lührmann R | title = The human homologue of the yeast splicing factor prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions | journal = Journal of Molecular Biology | volume = 298 | issue = 4 | pages = 567–75 | date = May 2000 | pmid = 10788320 | doi = 10.1006/jmbi.2000.3685 }}
  • {{cite journal | vauthors = Le Hir H, Moore MJ, Maquat LE | title = Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions | journal = Genes & Development | volume = 14 | issue = 9 | pages = 1098–108 | date = May 2000 | doi = 10.1101/gad.14.9.1098 | pmid = 10809668 | pmc = 316578 }}
  • {{cite journal | vauthors = McHale JC, McKie AB, Tarttelin EE, Inglehearn CF | title = Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus | journal = Cytogenetics and Cell Genetics | volume = 88 | issue = 3–4 | pages = 225–9 | year = 2000 | pmid = 10828595 | doi = 10.1159/000015556 | s2cid = 46632974 }}

{{Refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]

{{Post transcriptional modification}}

{{DEFAULTSORT:Prpf8}}

Category:Spliceosome

{{gene-17-stub}}