Identity
HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
HPRP3,HPRP3P,PRP3,Prp3p,RP18,SNRNP90
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9129
MIM: 607301
HGNC: 17348
Ensembl: ENSG00000117360
Variants:
dbSNP: 9129
ClinVar: 9129
TCGA: ENSG00000117360
COSMIC: PRPF3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000117360 | ENST00000324862 | O43395 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28379520 | 2017 | SUMO conjugation to spliceosomal proteins is required for efficient pre-mRNA splicing. | 24 |
| 28379520 | 2017 | SUMO conjugation to spliceosomal proteins is required for efficient pre-mRNA splicing. | 24 |
| 27886254 | 2016 | Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa. | 7 |
| 27886254 | 2016 | Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa. | 7 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21378395 | 2011 | PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. | 71 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21378395 | 2011 | PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. | 71 |
| 20309403 | 2010 | Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. | 13 |
| 20309403 | 2010 | Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. | 13 |
| 17932117 | 2008 | Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. | 11 |
| 18026141 | 2008 | Protein kinase CK2 interacts with the splicing factor hPrp3p. | 10 |
| 18211889 | 2008 | Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3. | 5 |
| 18395097 | 2008 | EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas. | 20 |
| 18553058 | 2008 | Contribution of the individual subunits of protein kinase CK2 and of hPrp3p to the splicing process. | 2 |
Citation
Dessen P
PRPF3 (pre-mRNA processing factor 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54554/prpf3-(pre-mrna-processing-factor-3)
