--- [1]
title: SNRNP70 [2]
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| SNRNP70 - Small nuclear ribonucleoprotein 70kDa | |
|---|---|
| Gene Symbol | SNRNP70 |
| Full Name | Small nuclear ribonucleoprotein 70kDa |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | [6625](https://www.ncbi.nlm.nih.gov/gene/6625) |
| OMIM | [180810](https://www.omim.org/entry/180810) |
| Ensembl ID | [ENSG00000106462](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106462) |
| UniProt ID | [P08621](https://www.uniprot.org/uniprot/P08621) |
| Associated Diseases | Spinal Muscular Atrophy, Retinitis Pigmentosa, ALS, Frontotemporal Dementia |
SNRNP70 (U1-70K, RNPU1L) is a core component of the U1 small nuclear ribonucleoprotein (snRNP) complex, which plays an essential role in pre-mRNA splicing. As part of the spliceosome, SNRNP70 recognizes the 5' splice site and initiates the splicing cascade that removes introns from precursor messenger RNA. Dysregulation of SNRNP70 and other splicing factors has been strongly implicated in neurodegenerative diseases including ALS and FTD.
SNRNP70 is one of the core proteins of the U1 snRNP, which is the first snRNP to recognize pre-mRNA splice sites. The protein is named for its molecular weight (70 kDa) and is also known as U1-70K due to its association with the U1 snRNA. SNRNP70 contains both RNA-binding domains and protein-protein interaction domains that enable it to function as a molecular hub in the splicing machinery.
SNRNP70 is essential for accurate pre-mRNA splicing:
5' Splice Site Recognition: SNRNP70 binds directly to the 5' splice site consensus sequence (GU) through its RNA recognition motif (RRM) [1].
Spliceosome Assembly: SNRNP70 nucleates the assembly of the spliceosome complex, facilitating the formation of the E complex, A complex, and subsequent splicing intermediates.
Spliceosome Activation: The protein undergoes phosphorylation changes that regulate spliceosome activation and catalytic steps.
Alternative Splicing: SNRNP70 participates in regulated alternative splicing decisions that determine which exons are included in mature mRNAs.
The U1 snRNP (with SNRNP70 as a key component) functions in the splicing cycle:
SNRNP70 contains several functional domains:
SNRNP70 interacts with multiple splicing factors:
SNRNP70 and RNA splicing are prominently affected in ALS [2]:
Key Splicing Changes in ALS:
Similar splicing abnormalities are observed in FTD:
While primarily caused by SMN1 deficiency:
SNRNP70 mutations cause inherited retinal degeneration:
Targeting RNA splicing offers therapeutic opportunities:
The study of Snrnp70 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Kapeli et al. Distinctive RNA splicing in ALS/FTD (2020). 2020. ↩︎
Przybylska et al. SNRNP70 mutations and disease (2019). 2019. ↩︎
Zhang et al. Splicing factors in neurodegeneration (2021). 2021. ↩︎