SRPK3: SRSF Protein Kinase 3
A serine/arginine-rich protein kinase involved in splicing regulation and muscle development.
Gene Information Card
| Symbol | SRPK3 |
|---|---|
| Full Name | SRSF protein kinase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 26576 ncbi.nlm.nih.gov/gene/26576 |
| Ensembl ID | ENSG00000184371 |
| UniProt ID | Q9UPE1 |
| OMIM ID | 300817 |
| HGNC ID | 11398 |
| Aliases | STK23, MSSK-1, SRPKIN3 |
Description
SRPK3 (SRSF protein kinase 3) encodes a serine/arginine-rich protein kinase that phosphorylates serine/arginine-rich splicing factors, regulating pre-mRNA splicing. It is predominantly expressed in skeletal and cardiac muscle and plays a role in muscle development and function. Mutations in SRPK3 are associated with X-linked centronuclear myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked centronuclear myopathy | Loss-of-function mutations impair SRPK3 kinase activity, disrupting splicing regulation and leading to muscle fiber abnormalities. | ClinVar, OMIM |
| Myopathy, centronuclear, X-linked, with dilated cardiomyopathy | Missense and nonsense variants in SRPK3 cause severe muscle weakness and cardiac involvement. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 8.2 | Medium |
| Testis | 3.1 | Low |
| Brain | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 15.3 | High expression |
| H9c2 (rat cardiomyoblast) | 9.8 | Moderate expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function; associated with centronuclear myopathy |
| c.491G>A (p.Arg164Gln) | Missense | Rare | Impaired kinase activity; pathogenic in X-linked myopathy |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish kinase activity or protein expression.
Gain of Function (GOF)
No gain-of-function mutations reported in SRPK3.
Dominant Negative (DN)
No dominant-negative mutations described; disease is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity (GO:0004674) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • nuclear speck (GO:0016607) |
| • identical protein binding (GO:0042802) |
Pathways
• Spliceosome (Reactome R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72172)
• Regulation of mRNA stability by proteins that bind AU-rich elements (Reactome R-HSA-450531)
Protein Summary
SRPK3 is a 655-amino acid serine/threonine kinase that specifically phosphorylates serine/arginine-rich (SR) proteins, modulating their localization and activity in splicing. It localizes to nuclear speckles and is highly expressed in muscle tissues. The protein contains a bipartite nuclear localization signal and a kinase domain. Defects in SRPK3 lead to aberrant splicing of muscle-specific transcripts, contributing to centronuclear myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRPK3 Knockout HEK293 Cell Line | EDJ-KQ8558 | Human | 26576 | Details Get a Quote |
| SRPK3 Knockout HeLa Cell Line | EDJ-KQ55954 | Human | 26576 | Details Get a Quote |
| SRPK3 Knockout A-549 Cell Line | EDJ-KQ64441 | Human | 26576 | Details Get a Quote |
| SRPK3 Knockout HCT 116 Cell Line | EDJ-KQ72896 | Human | 26576 | Details Get a Quote |
