PRPF31 Recombinant Rabbit Monoclonal Antibody [JE64-82] (HA721089)

UNIPROT #

Q8WWY3

PROTEIN NAME

PRPF31

SYNONYMS

DKFZp566J153 antibody;hPrp 31 antibody;hPrp31 antibody;NY BR 99 antibody;Pre mRNA processing factor 31 antibody;Pre mRNA processing factor 31 homolog (yeast) antibody;Pre mRNA processing factor 31 homolog antibody;Pre-mRNA-processing factor 31 antibody;Precursor mRNA-processing factor 31, S. cerevisiae, homolog of antibody;Protein 61K antibody;PRP 31 antibody;PRP31 antibody;PRP31 pre mRNA processing factor 31 homolog (yeast) antibody;PRP31 pre mRNA processing factor 31 homolog antibody;PRP31_HUMAN antibody;PRPF 31 antibody;prpf31 antibody;RP 11 antibody;RP11 antibody;Serologically defined breast cancer antigen NY BR 99 antibody;Serologically defined breast cancer antigen NY-BR-99 antibody;SNRNP61 antibody;U4/U6 small nuclear ribonucleoprotein Prp31 antibody;U4/U6 snRNP 61 kDa protein antibody

SUBCELLULAR LOCATION

Nucleus, Nucleus speckle, Cajal body.

FUNCTION

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene. PRPF31 is the gene coding for the splicing factor hPRP31. It is essential for the formation of the spliceosome hPRP31 is associated with the U4/U6 di-snRNP and interacts with another splicing factor, hPRP6, to form the U4/U6-U5 tri-snRNP. It has been shown that when hPRP31 is knocked down by RNAi, U4/U6 di-snRNPs accumulate in the Cajal bodies and the U4/U6-U5 tri-snRNP cannot form. PRPF31 is recruited to introns following the attachment of U4 and U6 RNAs and the 15.5K protein NHP2L1. The addition of PRPF31 is crucial for the transition of the spliceosomal complex to the activated state. A mutation in PRPF31 is one of 4 known mutations in splicing factors which are known to cause retinitis pigmentosa. The first mutation in PRPF31 was discovered by Vithana et al. in 2001. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.