SRPK3

Last update 08 May 2025

Basic Info

Synonyms

MSSK-1, MSSK1, Muscle-specific serine kinase 1

+ [8]

Introduction

Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity).

100 Clinical Results associated with SRPK3

100 Translational Medicine associated with SRPK3

0 Patents (Medical) associated with SRPK3

Literatures (Medical) associated with SRPK3

01 May 2025·Clinical Genetics

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings

Article

Author: Kutsev, Sergey ; Sharkova, Inna ; Borovikov, Artem ; Murtazina, Aysylu ; Nefedova, Maria ; Konovalov, Fedor ; Shchagina, Olga

ABSTRACTWe present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss‐of‐function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively. Both siblings experienced prenatal disease onset, characterized by weak fetal movements, but showed significant clinical improvement over two last years of our follow‐up. Key features included early onset, delayed motor development, and prominent axial and proximal weakness, while adult variants' carriers remained asymptomatic, without any myopathic or cardiac manifestations. Lower limb MRI revealed distinctive abnormalities, with different patterns between the siblings: the older brother showed more pronounced involvement of the thigh muscles, while the younger brother exhibited greater changes in the lower leg muscles. Given the early stage of the disease in our patients and the initial changes observed on MRI, we suggest that the semitendinosus and vastus lateralis muscles are primarily involved at the thigh level in SRPK3/TTN‐myopathy. This case highlights the importance of considering digenic inheritance in neuromuscular disorders and underscores the necessity of comprehensive genetic analysis in similar cases.

01 Apr 2025·Chemical Biology & Drug Design

The Development of Selective Chemical Probes for Serine Arginine Protein Kinase 3

Article

Author: Hanke, Danielle ; McCutcheon, Conall ; Page, Brent D. G.

ABSTRACTThe serine arginine protein kinases (SRPKs) are a family of kinases whose irregular function is implicated in cancer and viral infections. While the roles of SRPK1 and SRPK2 in disease are well established, much less is known about SRPK3. There are several studies implicating SRPK3 in breast cancer, but the mechanism is still unknown. This work describes the first‐reported SRPK3 chemical probes that show excellent selectivity over the other SRPKs. 1‐(4‐cyanophenyl)‐3‐phenylurea was identified as an initial hit for SRPK3 through a kinase screen. Subsequent rounds of in silico docking, medicinal chemistry optimization, and biochemical assays were performed to increase its potency and selectivity for SRPK3. Six top compounds were identified that displayed single digit micromolar IC50 values in SRPK3 activity assays and negligible inhibition of SRPK1 or SRPK2. These six compounds demonstrated impairment of breast cancer cell viability that correlated with their biochemical IC50 values, suggesting that they can be used as tools to study the biological functions of SRPK3 in breast cancer. With an enhanced understanding of SRPK3's biological function, it may emerge as a meaningful drug target, wherein our top inhibitors could be further optimized to produce novel cancer therapeutics.

01 Nov 2024·Annals of Neurology

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability

Article

Author: Cha, Hyo Sun ; Kim, Sungjin ; Gilmore, Kelly ; Kim, Hyung‐Goo ; Lee, Kang‐Han ; Gerlai, Robert ; Montanari, Francesca ; Lee, Yu‐Ri ; Severi, Giulia ; Chudley, Albert E. ; Yousaf, Hammad ; Chodirker, Bernard N. ; Crosier, Moira ; Norton, William H. J. ; Choi, Tae‐Ik ; Maconachie, Gail ; Wang, Tao ; Constantinescu, Cris S. ; Khan, Tahir N. ; Vora, Neeta L. ; Yoon, Je‐Hyun ; Graziano, Claudio ; Kyung, Jae‐Jun ; Iovino, Emanuela ; Ku, Bonsu ; Thomas, Mervyn G. ; Kim, Tae‐Yoon ; Hammer, Michael F. ; Choi, Cheol Yong ; Boerkoel, Cornelius F. ; Davis, Erica E. ; Pippucci, Tommaso ; Schwartz, Charles E. ; Horak, Holli ; Skinner, Cindy ; Roychaudhury, Arkaprava ; Toro, Camilo ; Kim, Cheol‐Hee ; Gottlob, Irene

ObjectiveIntellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X‐linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities.MethodsEmploying exome or genome sequencing, here we identified 4 missense variants (c.475C > G; p.H159D, c.1373C > A; p.T458N, and c.1585G > A; p.E529K, c.953C > T; p.S318L) and a putative truncating variant (c.1413_1414del; p.Y471*) in the SRPK3 gene in 9 XLID patients from 5 unrelated families. To validate SRPK3 as a novel XLID gene, we established a knockout (KO) model of the SRPK3 orthologue in zebrafish.ResultsThe 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Together, these data indicate a pathological role of SRPK3 in neurodevelopmental disorders. In post‐fertilization day 5 larvae (free swimming stage), KO zebrafish exhibited severe deficits in eye movement and swim bladder inflation, mimicking uncontrolled ocular movement and physical clumsiness observed in human patients. In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability.InterpretationOverall, these results suggest a crucial role of SRPK3 in the pathogenesis of syndromic X‐linked intellectual disability and provide new insights into brain development, cognitive and ocular dysfunction in both humans and zebrafish. ANN NEUROL 2024;96:914–931

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SRPK3

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