Ensembl ID | Symbol | Entrez ID | RBD | RBPome | PRI | Expresion | Pathway | Phenotype | Paralog | Ortholog | GO |
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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].
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].
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 .
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 .
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.