Recombinant Human Pre-mRNA-processing-splicing factor 8 (PRPF8), Truncated

Uniprot Id

Q6P2Q9

Target Species

Human

Target Name

PRPF8

Target Full Name

Pre-mRNA-processing-splicing factor 8

Target Function

Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site.

Target Involvement

Retinitis pigmentosa 13 (RP13)

Target Subcellular Location

Nucleus. Nucleus speckle.

Target Tissue Specificity

Widely expressed.

Target Synonyms

220 kDa U5 snRNP specific protein; 220 kDa U5 snRNP-specific protein; Apoptosis regulated protein 1; Apoptosis regulated protein 2; HPRP8; p220; Pre mRNA processing factor 8; Pre mRNA-processing factor 8; S. cerevisiae; homolog of; Pre-mRNA-processing-splicing factor 8; Precursor mRNA processing protein ; PRP8; PRP8 homolog; PRP8 pre mRNA processing factor 8 homolog ; PRP8_HUMAN; PRPC8; Prpf8; Retinitis pigmentosa 13 (autosomal dominant); RP13; SNRNP220; Splicing factor Prp8; U5 snRNP specific protein ; U5 snRNP specific protein (220 kD); ortholog of S. cerevisiae Prp8p

Target Background

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.