PRPF8

Pre-mRNA processing factor 8

Rendering based on PDB 3E9L.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsPRPF8 ; HPRP8; PRP8; PRPC8; RP13; SNRNP220
External IDsOMIM: 607300 MGI: 2179381 HomoloGene: 4706 GeneCards: PRPF8 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez10594192159
EnsemblENSG00000174231ENSMUSG00000020850
UniProtQ6P2Q9Q99PV0
RefSeq (mRNA)NM_006445NM_138659
RefSeq (protein)NP_006436NP_619600
Location (UCSC)Chr 17:
1.55 – 1.59 Mb
Chr 11:
75.49 – 75.51 Mb
PubMed search

Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene.[1][2]

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.[3]

Interactions

PRPF8 has been shown to interact with WDR57[4][5] and EFTUD2.[5]

References

  1. 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 (Jul 2001). "Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)". Hum Mol Genet 10 (15): 1555–62. doi:10.1093/hmg/10.15.1555. PMID 11468273.
  2. Luo HR, Moreau GA, Levin N, Moore MJ (Jul 1999). "The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes". RNA 5 (7): 893–908. doi:10.1017/S1355838299990520. PMC 1369814. PMID 10411133.
  3. "Entrez Gene: PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)".
  4. Ewing, Rob M; Chu Peter, Elisma Fred, Li Hongyan, Taylor Paul, Climie Shane, McBroom-Cerajewski Linda, Robinson Mark D, O'Connor Liam, Li Michael, Taylor Rod, Dharsee Moyez, Ho Yuen, Heilbut Adrian, Moore Lynda, Zhang Shudong, Ornatsky Olga, Bukhman Yury V, Ethier Martin, Sheng Yinglun, Vasilescu Julian, Abu-Farha Mohamed, Lambert Jean-Philippe, Duewel Henry S, Stewart Ian I, Kuehl Bonnie, Hogue Kelly, Colwill Karen, Gladwish Katharine, Muskat Brenda, Kinach Robert, Adams Sally-Lin, Moran Michael F, Morin Gregg B, Topaloglou Thodoros, Figeys Daniel (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. (England) 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  5. 5.0 5.1 Achsel, T; Ahrens K; Brahms H; Teigelkamp S; Lührmann R (Nov 1998). "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". Mol. Cell. Biol. (UNITED STATES) 18 (11): 6756–66. ISSN 0270-7306. PMC 109259. PMID 9774689.

External links

Further reading