SRPK3

Chr Xq28

SRSF protein kinase 3

Aliases:: MSSK1
MANE:: ENST00000370101.8

OMIM: 301002 ↗NCBI: 26576 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SRPK3 · Q9UPE1

v62025-08-01

Predicted Aligned Error matrix for SRPK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.2/ 100

Confident

567 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)13%
Low(50–70)3%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

intellectual developmental disorder, X-linked 114
0.57
congenital myopathy
0.34
neurodegenerative disease
0.33
autosomal recessive limb-girdle muscular dystrophy type 2J
0.28
osteoporosis
0.18
bone fracture
0.18
neurodevelopmental disorder
0.12
multiminicore myopathy
0.12
exercise intolerance, riboflavin-responsive
0.09
amyotrophic lateral sclerosis
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SRSF protein kinase 3

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)