U4/U6 small nuclear ribonucleoprotein Prp31 (pre-mRNA splicing factor 31, U4/U6 snRNP 61 kD protein, hPrp31, serologically defined breast cancer antigen NY-BR-99, PRPF31, PRP31)

Function

• pre-mRNA splicing, required for U4/U6.U5 tri-snRNP formation
• part of a tri-snRNP complex
• interacts with C20orf14/U5 snRNP-associated 102 kD protein

Compartment

• nucleus, nuclear speckle, nucleus, Cajal body
• predominantly found in speckles & in Cajal bodies

Alternative splicing

named isoforms=3

Expression

ubiquitously expressed

Pathology

• defects in PRPF31 are the cause of retinitis pigmentosa 11

More general terms

• nuclear protein
• ribonucleoprotein

Additional terms

• retinitis pigmentosa type 11 (RP11)

Component of

• U4/U6-snRNP; U4/U6 small nuclear ribonucleoprotein

Database

• OMIM: https://mirror.omim.org/entry/600138
• OMIM: https://mirror.omim.org/entry/606419
• UniProt: http://www.uniprot.org/uniprot/Q8WWY3.html