Danio_rerioFamily: Prp31_C Number of Genes: 1
Ensembl IDSymbolEntrez IDRBD RBPome PRIExpresion PathwayPhenotype ParalogOrthologGO
prpf31

Introduction

Pfam

This is the C terminal domain of the pre-mRNA processing factor Prp31. Prp31 is required for U4/U6.U5 tri-snRNP formation [2]. In humans this protein has been linked to autosomal dominant retinitis pigmentosa [2].

InterPro

This is the C-terminal domain of the pre-mRNA processing factor Prp31. Prp31 is required for U4/U6*U5 tri-snRNP formation [PUBMED:11867543]. In humans this protein has been linked to autosomal dominant retinitis pigmentosa [PUBMED:11867543, PUBMED:12444105].

Reference

  1. Weidenhammer EM, Singh M, Ruiz-Noriega M, Woolford JL Jr; , Nucleic Acids Res. 1996;24:1164-1170.: The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. PUBMED:8604353 EPMC:8604353 .

  2. Makarova OV, Makarov EM, Liu S, Vornlocher HP, Luhrmann R; , EMBO J. 2002;21:1148-1157.: Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. PUBMED:11867543 EPMC:11867543 .

  3. Deery EC, Vithana EN, Newbold RJ, Gallon VA, Bhattacharya SS, Warren MJ, Hunt DM, Wilkie SE; , Hum Mol Genet. 2002;11:3209-3219.: Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. PUBMED:12444105 EPMC:12444105.