PRPF3 (pre-mRNA processing factor 3)

2014-08-01  

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
HPRP3,HPRP3P,PRP3,Prp3p,RP18,SNRNP90
FUSION GENES

Other Information

Locus ID:

NCBI: 9129
MIM: 607301
HGNC: 17348
Ensembl: ENSG00000117360

Variants:

dbSNP: 9129
ClinVar: 9129
TCGA: ENSG00000117360
COSMIC: PRPF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117360ENST00000324862O43395

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117730022002Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.81
117730022002Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.81
213783952011PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.39
127146582003Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.36
155417262005Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.18
175176932007Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.18
128758352003Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide.17
119718982002Central region of the human splicing factor Hprp3p interacts with Hprp4p.15
183950972008EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas.14
203094032010Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.11

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