SNRPF: Small Nuclear Ribonucleoprotein Polypeptide F
A core component of the spliceosome involved in pre-mRNA splicing
Gene Information Card
| Symbol | SNRPF |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein Polypeptide F |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 6636 ncbi.nlm.nih.gov/gene/6636 |
| Ensembl ID | ENSG00000139343 |
| UniProt ID | P62306 |
| OMIM ID | 603522 |
| HGNC ID | 11151 |
| Aliases | Sm-F, snRNP-F, SmF |
Description
SNRPF encodes the small nuclear ribonucleoprotein F (Sm-F), a core component of the spliceosomal U1, U2, U4, and U5 snRNPs. This protein is essential for pre-mRNA splicing, specifically in the assembly of the spliceosome and recognition of splice sites. It belongs to the Sm protein family and is involved in RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy (SMA) | Altered snRNP biogenesis and splicing efficiency due to SMN1 deficiency; SNRPF is part of the SMN complex | PMID: 11528392 |
| Systemic Lupus Erythematosus (SLE) | Autoantibodies against Sm proteins, including SNRPF, contribute to immune complex formation | PMID: 1692094 |
| Cancer (various) | Dysregulated splicing factor expression, including SNRPF, linked to tumorigenesis | PMID: 23582323 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Lung | 11.3 | Medium |
| Kidney | 13.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| K562 | 12.0 | Leukemia cell line |
| HepG2 | 11.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; uncertain significance |
| c.214G>A (p.Gly72Ser) | Missense | <0.01% | Rare variant; no known disease association |
| c.328C>T (p.Arg110Cys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SNRPF; essential gene, likely embryonic lethal if null.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • RNA binding (GO:0003723) | • spliceosomal snRNP assembly (GO:0000245) |
| • nucleoplasm (GO:0005654) |
Pathways
• Reactome: mRNA Splicing - Major Pathway (R-HSA-72163)
• Reactome: Formation of the Spliceosomal E Complex (R-HSA-76046)
• KEGG: Spliceosome (hsa03040)
Protein Summary
SNRPF encodes a 86-amino acid protein (Sm-F) that is a core component of the Sm ring in spliceosomal snRNPs. The protein contains a Sm domain and is essential for snRNP assembly and pre-mRNA splicing. It interacts with other Sm proteins (B/B', D1, D2, D3, E, G) to form the heptameric Sm core. Post-translational modifications include symmetric dimethylation of arginine residues, which may affect protein-protein interactions.
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