PRPF8

Pre-mRNA processing factor 8

Rendering based on PDB 3E9L.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PRPF8 ; HPRP8; PRP8; PRPC8; RP13; SNRNP220
External IDs OMIM: 607300 MGI: 2179381 HomoloGene: 4706 GeneCards: PRPF8 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 10594 192159
Ensembl ENSG00000174231 ENSMUSG00000020850
UniProt Q6P2Q9 Q99PV0
RefSeq (mRNA) NM_006445 NM_138659
RefSeq (protein) NP_006436 NP_619600
Location (UCSC) Chr 17:
1.65 – 1.68 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]

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.[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)". Human Molecular Genetics 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 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  5. 1 2 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". Molecular and Cellular Biology 18 (11): 6756–66. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.

Further reading

External links


This article is issued from Wikipedia - version of the Wednesday, February 10, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.