PRPF38A
Pre-mRNA Processing Factor 38A
Gene Information Card
| Symbol | PRPF38A |
|---|---|
| Full Name | Pre-mRNA Processing Factor 38A |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 84950 ncbi.nlm.nih.gov/gene/84950 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q8NAV1 |
| OMIM ID | 617748 |
| HGNC ID | 26067 |
| Aliases | PRP38, PRPF38, RP11-81H14.2 |
Description
PRPF38A encodes a protein component of the U5 small nuclear ribonucleoprotein (snRNP) complex, which is essential for pre-mRNA splicing. The protein is involved in the assembly and stability of the spliceosome, facilitating the removal of introns from precursor mRNA. PRPF38A is ubiquitously expressed and plays a critical role in RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Mutations in PRPF38A disrupt spliceosome function, leading to retinal degeneration. | ClinVar, OMIM |
| Cancer (various) | Altered PRPF38A expression may contribute to aberrant splicing in tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Likely pathogenic; associated with retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may impair spliceosome assembly, reducing splicing efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some mutations may produce defective proteins that interfere with wild-type PRPF38A function.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • spliceosomal complex assembly |
| • mRNA processing | • nucleus |
| • U5 snRNP |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway
Protein Summary
PRPF38A is a 312-amino acid protein (UniProt Q8NAV1) that localizes to the nucleus and is a core component of the U5 snRNP. It interacts with other spliceosomal proteins to facilitate the second catalytic step of splicing. The protein contains a PRP38 domain essential for its function.
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|---|---|---|---|---|
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