SRSF5
Serine and Arginine Rich Splicing Factor 5
Gene Information Card
| Symbol | SRSF5 |
|---|---|
| Full Name | Serine and Arginine Rich Splicing Factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 6430 ncbi.nlm.nih.gov/gene/6430 |
| Ensembl ID | ENSG00000100650 |
| UniProt ID | Q13243 |
| OMIM ID | 600914 |
| HGNC ID | 10785 |
| Aliases | SRP40, HRS |
Description
SRSF5 (Serine and Arginine Rich Splicing Factor 5) is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors. It plays a key role in constitutive and alternative splicing by recognizing splice sites and facilitating spliceosome assembly. The protein contains an N-terminal RNA recognition motif (RRM) and a C-terminal RS domain rich in arginine-serine dipeptides. SRSF5 is involved in regulating alternative splicing of multiple genes and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered splicing of oncogenes and tumor suppressors via SRSF5 overexpression | PMID: 25691811 |
| Lung cancer | SRSF5 promotes proliferation and migration through alternative splicing of CD44 | PMID: 31073084 |
| Colorectal cancer | Upregulation of SRSF5 correlates with poor prognosis and splicing dysregulation | PMID: 29367608 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Lung | 15.7 | Medium |
| Breast | 12.3 | Medium |
| Colon | 10.8 | Medium |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.5 | Embryonic kidney cell line |
| HeLa | 18.9 | Cervical carcinoma cell line |
| A549 | 16.2 | Lung adenocarcinoma cell line |
| MCF7 | 14.7 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.832G>A (p.Gly278Ser) | Missense | 0.002% (gnomAD) | Potential splicing alteration |
| c.1003_1005del (p.Lys335del) | In-frame deletion | 0.0005% (gnomAD) | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SRSF5.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in splicing regulation.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • nucleus |
| • nuclear speck | • alternative mRNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
SRSF5 is a 272-amino acid protein (UniProt Q13243) with a molecular weight of 31.2 kDa. It contains an N-terminal RNA recognition motif (RRM) that binds to purine-rich exonic splicing enhancers (ESEs) and a C-terminal RS domain rich in arginine-serine repeats. The protein localizes to nuclear speckles and participates in spliceosome assembly. SRSF5 regulates alternative splicing of genes involved in cell proliferation, apoptosis, and differentiation. Its expression is altered in several cancers, contributing to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRSF5 Knockout HEK293 Cell Line | EDJ-KQ3255 | Human | 6430 | Details Get a Quote |
| SRSF5 Knockout A-549 Cell Line | EDJ-KQ24791 | Human | 6430 | Details Get a Quote |
| SRSF5 Knockout HCT 116 Cell Line | EDJ-KQ24792 | Human | 6430 | Details Get a Quote |
| SRSF5 Knockout HeLa Cell Line | EDJ-KQ24793 | Human | 6430 | Details Get a Quote |
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