Description: Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. RefSeq Summary (NM_006445): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:1,553,923-1,588,176 Size: 34,254 Total Exon Count: 43 Strand: - Coding Region Position: hg19 chr17:1,554,096-1,587,865 Size: 33,770 Coding Exon Count: 42
ID:PRP8_HUMAN DESCRIPTION: RecName: Full=Pre-mRNA-processing-splicing factor 8; AltName: Full=220 kDa U5 snRNP-specific protein; AltName: Full=PRP8 homolog; AltName: Full=Splicing factor Prp8; AltName: Full=p220; FUNCTION: Central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. Interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes. SUBUNIT: Part of the U5 snRNP complex, and of U5.4/6 and U5.U4atac/U6atac snRNP complexes in U2- and U12-dependent spliceosomes, respectively. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and WDR57/SPF38. Interacts with EFTUD2 and SNRNP200. INTERACTION: Q15029:EFTUD2; NbExp=2; IntAct=EBI-538479, EBI-357897; Q96DI7:SNRNP40; NbExp=3; IntAct=EBI-538479, EBI-538492; SUBCELLULAR LOCATION: Nucleus speckle (By similarity). TISSUE SPECIFICITY: Widely expressed. DOMAIN: The MPN domain has structural similarity with viral ribonucleases and RNase H, but unlike RNases, it does not bind any metal ions. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13) [MIM:600059]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP13 inheritance is autosomal dominant. SIMILARITY: Contains 1 MPN (JAB/Mov34) domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRPF8";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6P2Q9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BX649099 - Homo sapiens mRNA; cDNA DKFZp686L08123 (from clone DKFZp686L08123). AF092565 - Homo sapiens splicing factor Prp8 mRNA, complete cds. BC000579 - Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3342958). BC064370 - Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae), mRNA (cDNA clone MGC:74762 IMAGE:5587081), complete cds. AB007510 - Homo sapiens mRNA for PRP8 protein, complete cds. MA880083 - JP 2019500347-A/4: COMPOSITIONS AND METHODS FOR TREATMENT OF RETINITIS PIGMENTOSA 18 AND RETINITIS PIGMENTOSA 13. BC034545 - Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4473590), with apparent retained intron. AK222905 - Homo sapiens mRNA for U5 snRNP-specific protein variant, clone: HRC03173. AK058034 - Homo sapiens cDNA FLJ25305 fis, clone SYN00254, highly similar to Homo sapiens mRNA for PRP8 protein. AK296344 - Homo sapiens cDNA FLJ57882 complete cds, highly similar to Pre-mRNA-processing-splicing factor 8. JD262730 - Sequence 243754 from Patent EP1572962. JD477234 - Sequence 458258 from Patent EP1572962. JD511133 - Sequence 492157 from Patent EP1572962. JD020895 - Sequence 1919 from Patent EP1572962. AK126169 - Homo sapiens cDNA FLJ44181 fis, clone THYMU2038301. AY486134 - Homo sapiens apoptosis-regulated protein 2 mRNA, partial cds. AY486135 - Homo sapiens apoptosis-regulated protein 1 mRNA, partial cds. JD496097 - Sequence 477121 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03040 - Spliceosome
Reactome (by CSHL, EBI, and GO)
Protein Q6P2Q9 (Reactome details) participates in the following event(s):
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-75081 Formation of AT-AC B Complex R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage R-HSA-75079 Formation of AT-AC C complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72165 mRNA Splicing - Minor Pathway R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-8953854 Metabolism of RNA
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