SRSF3
Serine and Arginine Rich Splicing Factor 3
Gene Information Card
| Symbol | SRSF3 |
|---|---|
| Full Name | Serine and Arginine Rich Splicing Factor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 6428 ncbi.nlm.nih.gov/gene/6428 |
| Ensembl ID | ENSG00000112081 |
| UniProt ID | P84103 |
| OMIM ID | 603364 |
| HGNC ID | 10785 |
| Aliases | SRp20, SFRS3, MGC104231 |
Description
SRSF3 (Serine and Arginine Rich Splicing Factor 3) encodes a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors. The protein functions in both constitutive and alternative splicing, regulating exon inclusion and splice site selection. SRSF3 is essential for embryonic development, cell cycle progression, and mRNA export. It is frequently overexpressed in various cancers and implicated in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of SRSF3 promotes alternative splicing of oncogenes and tumor suppressors, enhancing cell proliferation and migration. | COSMIC, NCBI |
| Breast cancer | SRSF3 upregulation correlates with poor prognosis; alters splicing of CD44 and other cancer-related genes. | COSMIC, ClinVar |
| Colorectal cancer | SRSF3 overexpression drives aberrant splicing of KRAS and TP53, contributing to tumor progression. | COSMIC, NCBI |
| Acute myeloid leukemia | SRSF3 mutations and altered splicing patterns are associated with leukemogenesis. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Lymph node | 38.1 | High |
| Spleen | 32.5 | High |
| Bone marrow | 28.7 | Medium |
| Liver | 22.3 | Medium |
| Brain | 15.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.1 | High expression |
| HeLa | 38.5 | High expression |
| HepG2 | 35.2 | High expression |
| MCF7 | 30.8 | Medium expression |
| K562 | 27.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.1% | Alters RNA-binding domain; functional impact unknown |
| c.346G>A (p.Gly116Ser) | Missense | <0.1% | Located in RS domain; may affect phosphorylation and splicing activity |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the RRM domain or start codon are predicted to reduce or abolish splicing activity.
Gain of Function (GOF)
Overexpression and amplification of SRSF3 in cancers suggest a gain-of-function role in promoting oncogenic splicing.
Dominant Negative (DN)
No dominant-negative mutations have been reported for SRSF3.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • alternative mRNA splicing | • via spliceosome |
| • nucleus | • nucleoplasm |
| • spliceosomal complex | • protein binding |
| • RNA binding |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
• Alternative Splicing
Protein Summary
SRSF3 is a 164-amino acid SR protein with an N-terminal RNA recognition motif (RRM) and a C-terminal arginine/serine-rich (RS) domain. It binds to exonic splicing enhancers and recruits the spliceosome to promote exon inclusion. SRSF3 also participates in mRNA nuclear export and translation regulation. Post-translational phosphorylation by SRPKs and Clk/Sty kinases modulates its activity and subcellular localization.
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