SNRNP40
Small Nuclear Ribonucleoprotein U5 Subunit 40
Gene Information Card
| Symbol | SNRNP40 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein U5 Subunit 40 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 9410 ncbi.nlm.nih.gov/gene/9410 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q96DI7 |
| OMIM ID | 607797 |
| HGNC ID | 11147 |
| Aliases | PRP8BP, U5-40K, SNRNP40 |
Description
SNRNP40 encodes the 40 kDa component of the U5 small nuclear ribonucleoprotein (snRNP) complex, which is essential for pre-mRNA splicing. The protein interacts with PRPF8 and other spliceosomal components to facilitate the assembly and function of the spliceosome. Mutations in SNRNP40 are associated with autosomal recessive retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations impair U5 snRNP assembly, leading to defective splicing in retinal cells | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Adrenal gland | 10.2 | Medium |
| Thyroid | 9.8 | Medium |
| Brain | 8.5 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.419G>A (p.Arg140His) | Missense | <0.01% | Likely pathogenic; associated with retinitis pigmentosa |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Pathogenic; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish SNRNP40 function, disrupting U5 snRNP assembly and splicing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA splicing via spliceosome |
| • U5 snRNP | • spliceosomal complex |
| • nucleus | • protein binding |
Pathways
• Spliceosome (KEGG hsa03040)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome R-HSA-72163)
Protein Summary
SNRNP40 encodes a 40 kDa protein that is a core component of the U5 snRNP. It stabilizes the interaction between PRPF8 and other spliceosomal proteins, ensuring accurate pre-mRNA splicing. The protein is ubiquitously expressed with higher levels in testis and adrenal gland.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNRNP40 Knockout HEK293 Cell Line | EDJ-KQ50868 | Human | 9410 | Details Get a Quote |
| SNRNP40 Knockout HeLa Cell Line | EDJ-KQ55156 | Human | 9410 | Details Get a Quote |
| SNRNP40 Knockout A-549 Cell Line | EDJ-KQ63636 | Human | 9410 | Details Get a Quote |
| SNRNP40 Knockout HCT 116 Cell Line | EDJ-KQ72098 | Human | 9410 | Details Get a Quote |
