SNRNP70
Small Nuclear Ribonucleoprotein U1 Subunit 70
Gene Information Card
| Symbol | SNRNP70 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein U1 Subunit 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 6625 ncbi.nlm.nih.gov/gene/6625 |
| Ensembl ID | ENSG00000104852 |
| UniProt ID | P08621 |
| OMIM ID | 180280 |
| HGNC ID | 11150 |
| Aliases | U1-70K, U1AP1, RP11-81H14.2, snRNP70 |
Description
SNRNP70 encodes the 70K protein component of the U1 small nuclear ribonucleoprotein (snRNP), a core part of the spliceosome. This protein binds directly to the U1 snRNA stem-loop I and is essential for recognition of the 5' splice site during pre-mRNA splicing. It is also a major autoantigen in mixed connective tissue disease (MCTD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mixed connective tissue disease (MCTD) | Autoantibodies against U1-70K disrupt spliceosome function and trigger immune response | ClinVar, OMIM |
| Systemic lupus erythematosus (SLE) | Cross-reactive autoantibodies target U1-70K | ClinVar |
| Rheumatoid arthritis | Autoantibodies to U1-70K detected in subset of patients | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.3 | Ubiquitous expression |
| HeLa | 22.1 | High in cervical cancer line |
| K562 | 18.7 | Leukemia cell line |
| HepG2 | 15.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125G>A (p.Arg42Gln) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential splicing defect |
| c.1024_1026del (p.Lys342del) | In-frame deletion | <0.01% | Altered RNA binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in germline; likely embryonic lethal.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described; autoantibodies may act as dominant-negative inhibitors.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • U1 snRNP binding |
| • nucleus | • pre-mRNA 5'-splice site binding |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
The SNRNP70 protein (U1-70K) is a 437-amino-acid RNA-binding protein that contains an N-terminal RNA recognition motif (RRM) and a C-terminal arginine/serine-rich (RS) domain. It forms a stable complex with U1 snRNA and other U1 snRNP proteins (U1-A, U1-C) to recognize the 5' splice site. Post-translational modifications include phosphorylation of the RS domain, which regulates splicing activity. Autoantibodies against U1-70K are a hallmark of MCTD.
Related Services
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