PRPF8

Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene.[5][6]

PRPF8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPRPF8, pre-mRNA processing factor 8, HPRP8, PRP8, PRPC8, RP13, SNRNP220
External IDsOMIM: 607300 MGI: 2179381 HomoloGene: 4706 GeneCards: PRPF8
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17p13.3Start1,650,629 bp[1]
End1,684,867 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10594

192159

Ensembl

ENSG00000274442
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 MbChr 11: 75.49 – 75.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Interactions

PRPF8 has been shown to interact with WDR57[8][9] and EFTUD2.[9]

References

  1. ENSG00000174231 GRCh38: Ensembl release 89: ENSG00000274442, ENSG00000174231 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020850 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)".
  8. 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.
  9. 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


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