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MGP003806

UniProt Annotations

Entry Information
Gene Namepre-mRNA processing factor 4
Protein EntryPRP4_HUMAN
UniProt IDO43172
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43172-1; Sequence=Displayed; Name=2; IsoId=O43172-2; Sequence=VSP_006785;
DiseaseRetinitis pigmentosa 70 (RP70) [MIM:615922]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:24419317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionParticipates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome.
InteractionQ92917:GPKOW; NbExp=2; IntAct=EBI-718395, EBI-746309; O43447:PPIH; NbExp=2; IntAct=EBI-718395, EBI-1055615;
SimilarityContains 7 WD repeats. {ECO:0000255|PROSITE- ProRule:PRU00221}.
Subcellular LocationNucleus speckle {ECO:0000250}. Note=Colocalizes with spliceosomal snRNPs. {ECO:0000250}.
SubunitInteracts directly with PRPF18, PPIH and PRPF3. Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. {ECO:0000269|PubMed:12875835, ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:9000057, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}.
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