PRPF4: Pre-mRNA Processing Factor 4
A core component of the U4/U6-U5 tri-snRNP spliceosome complex involved in pre-mRNA splicing
Gene Information Card
| Symbol | PRPF4 |
|---|---|
| Full Name | Pre-mRNA Processing Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 9128 ncbi.nlm.nih.gov/gene/9128 |
| Ensembl ID | ENSG00000136867 |
| UniProt ID | O43172 |
| OMIM ID | 607795 |
| HGNC ID | 17349 |
| Aliases | PRP4, PRP4A, HPRP4, RP70 |
Description
PRPF4 encodes pre-mRNA processing factor 4, a component of the U4/U6-U5 tri-snRNP complex essential for pre-mRNA splicing. The protein contains WD40 repeats and interacts with other spliceosomal proteins to facilitate spliceosome assembly and catalytic activation. Mutations in PRPF4 are associated with autosomal dominant retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 70 (RP70) | Mutations in PRPF4 disrupt spliceosome function in retinal cells, leading to photoreceptor degeneration | OMIM #615922; ClinVar; PMID: 25262649 |
| Retinitis pigmentosa (general) | Defective pre-mRNA splicing due to PRPF4 haploinsufficiency or dominant-negative effects | OMIM #268000; multiple studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 12.8 | Medium |
| Adrenal gland | 11.5 | Medium |
| Brain | 10.1 | Medium |
| Retina | 9.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 12.1 | High expression |
| K562 | 10.3 | Medium expression |
| SH-SY5Y | 9.7 | Medium expression |
| HepG2 | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.815G>A (p.Arg272Gln) | Missense | Rare | Dominant-negative; associated with RP70 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely pathogenic |
| c.1186C>T (p.Arg396Trp) | Missense | Rare | Unknown significance; reported in RP |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) lead to absent or truncated protein, causing haploinsufficiency.
Gain of Function (GOF)
Not reported for PRPF4.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg272Gln) disrupt tri-snRNP assembly, impairing splicing in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Reactome: mRNA Splicing - Major Pathway (R-HSA-72163)
• Reactome: Formation of the tri-snRNP complex (R-HSA-72165)
• KEGG: Spliceosome (hsa03040)
Protein Summary
PRPF4 (pre-mRNA processing factor 4) is a 520-amino acid protein containing WD40 repeats that mediate protein-protein interactions within the U4/U6-U5 tri-snRNP complex. It is essential for spliceosome assembly and pre-mRNA splicing. The protein localizes to the nucleus and is ubiquitously expressed, with highest levels in testis and retina. Mutations cause autosomal dominant retinitis pigmentosa via dominant-negative or haploinsufficiency mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPF40B Knockout HEK293 Cell Line | EDJ-KQ14902 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout HeLa Cell Line | EDJ-KQ44091 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout A-549 Cell Line | EDJ-KQ45358 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout HCT 116 Cell Line | EDJ-KQ45359 | Human | 25766 | Details Get a Quote |
