PRPF8 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. Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13). 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. Note: This description may include information from UniProtKB.
Protein type: RNA splicing; RNA-binding; Spliceosome
Chromosomal Location of Human Ortholog: 17p13.3
Cellular Component:  catalytic step 2 spliceosome; nuclear speck; nucleoplasm; nucleus; U2-type catalytic step 2 spliceosome; U2-type precatalytic spliceosome; U4/U6 x U5 tri-snRNP complex
Molecular Function:  K63-linked polyubiquitin modification-dependent protein binding; protein binding
Biological Process:  cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; mRNA processing; mRNA splicing, via spliceosome; RNA splicing; RNA splicing, via transesterification reactions; spliceosomal tri-snRNP complex assembly
Disease: Retinitis Pigmentosa 13
Reference #:  Q6P2Q9 (UniProtKB)
Alt. Names/Synonyms: 220 kDa U5 snRNP-specific protein; apoptosis-regulated protein 1; apoptosis-regulated protein 2; HPRP8; p220; Pre-mRNA-processing-splicing factor 8; precursor mRNA processing protein; PRP8; PRP8 homolog; PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae); PRPC8; PRPF8; RP13; Splicing factor Prp8; U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p
Gene Symbols: PRPF8
Molecular weight: 273,600 Da
Basal Isoelectric point: 8.95  Predict pI for various phosphorylation states
Select Structure to View Below

PRPF8

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB