SF1 (Splicing Factor 1) Gene
A key regulator of pre-mRNA splicing and steroidogenic gene expression
Gene Information Card
| Symbol | SF1 |
|---|---|
| Full Name | Splicing Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 7536 ncbi.nlm.nih.gov/gene/7536 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | Q15637 |
| OMIM ID | 601516 |
| HGNC ID | 10803 |
| Aliases | ZFM1, ZNF162, BBP, MBBP, D11S636 |
Description
The SF1 gene encodes splicing factor 1, a zinc finger protein involved in the early steps of pre-mRNA splicing. It recognizes the intron branch point sequence and interacts with U2 snRNP auxiliary factors to facilitate spliceosome assembly. SF1 also functions as a transcriptional regulator of steroidogenic genes, including CYP11A1 and CYP17A1. Mutations and altered expression of SF1 are associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SF1 expression disrupts alternative splicing of tumor suppressor genes | PMID: 25691885 |
| Ovarian cancer | SF1 overexpression correlates with poor prognosis and aberrant splicing | PMID: 26921344 |
| Adrenocortical insufficiency | SF1 mutations impair steroidogenic gene transcription | PMID: 21712856 |
| 46,XY disorders of sex development | Loss-of-function SF1 variants cause gonadal dysgenesis | PMID: 21712856 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Adrenal gland | 12.8 | Medium |
| Ovary | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| MCF7 | 14.2 | Medium expression |
| HepG2 | 9.7 | Low expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.274C>T (p.Arg92Trp) | Missense | <0.01% | Impaired DNA binding, reduced transcriptional activity |
| c.437G>A (p.Arg146Gln) | Missense | <0.01% | Altered splicing factor activity |
Mutation functional classification
Loss of Function (LOF)
SF1 loss-of-function mutations impair branch point recognition and splicing, leading to aberrant mRNA isoforms and reduced steroidogenic gene expression.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in SF1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg92Trp) may exert dominant-negative effects by interfering with wild-type SF1 function in spliceosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex assembly | • zinc ion binding |
| • nucleic acid binding | • steroid hormone receptor signaling pathway |
Pathways
• mRNA Splicing - Major Pathway
• Spliceosome
• Steroidogenesis
Protein Summary
Splicing factor 1 (SF1) is a 639-amino acid protein containing a zinc finger domain, a proline-rich region, and a C-terminal RNA recognition motif. It binds specifically to the intron branch point sequence (UACUAAC) and recruits U2 snRNP to the spliceosome. SF1 also shuttles between nucleus and cytoplasm and modulates transcription of steroidogenic enzymes. Its dual role in splicing and transcription links RNA processing to endocrine function.
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