PRPF31 Gene
Pre-mRNA Processing Factor 31
Gene Information Card
| Symbol | PRPF31 |
|---|---|
| Full Name | Pre-mRNA Processing Factor 31 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 26121 ncbi.nlm.nih.gov/gene/26121 |
| Ensembl ID | ENSG00000105618 |
| UniProt ID | Q8WWY3 |
| OMIM ID | 606419 |
| HGNC ID | 15446 |
| Aliases | RP11, PRP31, SNRNP61, NY-LU-12 |
Description
PRPF31 encodes a protein component of the U4/U6.U5 tri-snRNP complex, essential for pre-mRNA splicing. It is ubiquitously expressed and mutations are associated with autosomal dominant retinitis pigmentosa 11 (RP11), characterized by progressive photoreceptor degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 11 (RP11) | Haploinsufficiency due to loss-of-function mutations in PRPF31 leads to defective splicing in retinal cells, causing photoreceptor death. | ClinVar, OMIM |
| Retinitis pigmentosa (general) | PRPF31 mutations account for ~2-5% of autosomal dominant retinitis pigmentosa cases. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Brain | 8.1 | Low |
| Heart | 7.4 | Low |
| Liver | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| HEK293 | 11.8 | Medium expression |
| HeLa | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1115_1118delAAAG | Frameshift | Rare | Loss of function; truncation of protein |
| c.358_359delAG | Frameshift | Rare | Loss of function; premature stop codon |
| c.419G>A (p.Arg140Gln) | Missense | Rare | Impaired splicing activity; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Most PRPF31 mutations cause haploinsufficiency via frameshift, nonsense, or splice-site alterations, reducing functional protein levels.
Gain of Function (GOF)
Not reported for PRPF31.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg140Gln) may exert dominant negative effects by disrupting tri-snRNP assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex assembly | • U4/U6.U5 tri-snRNP complex |
| • nucleus | • protein binding |
Pathways
• mRNA Splicing - Major Pathway
• Spliceosome (KEGG hsa03040)
Protein Summary
PRPF31 is a 61 kDa protein that localizes to the nucleus and is a core component of the U4/U6.U5 tri-snRNP. It facilitates the recruitment of the tri-snRNP to the spliceosome during pre-mRNA splicing. The protein contains a Nop domain and a coiled-coil region important for protein-protein interactions.
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