SNRPE Gene - Small Nuclear Ribonucleoprotein Polypeptide E
Essential component of the spliceosome involved in pre-mRNA splicing and associated with autoimmune and cancer phenotypes
Gene Information Card
| Symbol | SNRPE |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein Polypeptide E |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 6635 ncbi.nlm.nih.gov/gene/6635 |
| Ensembl ID | ENSG00000182004 |
| UniProt ID | P62304 |
| OMIM ID | 182280 |
| HGNC ID | 11161 |
| Aliases | Sm-E, snRNP-E, SmE |
Description
SNRPE encodes the E polypeptide of the small nuclear ribonucleoprotein (snRNP) core complex, a key component of the spliceosome. This protein is essential for pre-mRNA splicing, specifically for the assembly of U1, U2, U4, and U5 snRNPs. SNRPE is involved in the recognition of the 5' splice site and the formation of the active spliceosome. Mutations or altered expression of SNRPE have been implicated in autoimmune diseases (e.g., systemic lupus erythematosus) and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | Autoantibodies against Sm proteins, including SNRPE, contribute to immune complex deposition and tissue damage. | ClinVar, OMIM |
| Mixed connective tissue disease (MCTD) | Anti-RNP antibodies target SNRPE-containing snRNPs, leading to inflammatory pathology. | OMIM, NCBI |
| Breast cancer | SNRPE overexpression correlates with poor prognosis; may promote splicing dysregulation. | COSMIC, NCBI |
| Lung adenocarcinoma | Recurrent somatic mutations in SNRPE (e.g., missense) observed in tumor samples. | COSMIC |
| Colorectal cancer | SNRPE amplification and increased expression linked to tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.1 | High |
| Spleen | 20.3 | High |
| Bone marrow | 18.7 | High |
| Brain | 12.4 | Medium |
| Heart | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.5 | Low |
| Lung | 6.9 | Low |
| Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 25.3 | High expression; consistent with hematopoietic lineage |
| HeLa (cervical) | 22.1 | High expression; common in cancer cell lines |
| A549 (lung) | 18.6 | High expression; lung adenocarcinoma model |
| MCF7 (breast) | 15.2 | Medium-high; breast cancer cell line |
| HEK293 (embryonic kidney) | 12.4 | Medium; widely used for protein studies |
| HepG2 (liver) | 9.8 | Medium; hepatocyte model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.34G>A (p.Gly12Arg) | Missense | 0.02% | May alter protein stability; observed in lung cancer (COSMIC) |
| c.67C>T (p.Arg23Cys) | Missense | 0.01% | Found in colorectal cancer; potential splicing defect |
| c.112A>G (p.Thr38Ala) | Missense | 0.03% | Reported in breast cancer; functional impact unknown |
| c.145_147del (p.Glu49del) | In-frame deletion | <0.01% | Deletion in conserved region; may disrupt snRNP assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations at conserved residues (e.g., p.Gly12Arg) may impair snRNP assembly or RNA binding, leading to splicing defects.
Gain of Function (GOF)
Not clearly established; overexpression in cancers suggests possible oncogenic gain-of-function via altered splicing of tumor suppressors.
Dominant Negative (DN)
Mutations affecting the Sm core domain (e.g., p.Arg23Cys) could disrupt snRNP complex formation, exerting dominant-negative effects on splicing.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
• Formation of the Spliceosomal E Complex (Reactome R-HSA-76046)
• U1 snRNP Assembly (Reactome R-HSA-6807505)
Protein Summary
SNRPE encodes the Sm-E protein, a 119-amino acid polypeptide that forms part of the Sm core of spliceosomal snRNPs. The protein contains a conserved Sm domain that mediates RNA binding and protein-protein interactions. SNRPE is essential for the assembly of U1, U2, U4, and U5 snRNPs, which are critical for pre-mRNA splicing. The protein is ubiquitously expressed, with highest levels in testis and lymphoid tissues. Post-translational modifications include symmetric dimethylation of arginine residues, which may regulate snRNP assembly. Structural studies show that Sm-E forms a heteromeric ring with other Sm proteins, creating a binding platform for snRNA.
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