SRPK3 (SRSF protein kinase 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26576
Gene name Gene Name - the full gene name approved by the HGNC.
SRSF protein kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRPK3
Synonyms (NCBI Gene) Gene synonyms aliases
MSSK-1, MSSK1, STK23, XLID114
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT017717 hsa-miR-335-5p Microarray 18185580
MIRT1389544 hsa-miR-3135b CLIP-seq
MIRT1389545 hsa-miR-3689d CLIP-seq
MIRT1389546 hsa-miR-4487 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000245 Process Spliceosomal complex assembly IBA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301002 11402 ENSG00000184343
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UPE1
Protein name SRSF protein kinase 3 (EC 2.7.11.1) (Muscle-specific serine kinase 1) (MSSK-1) (Serine/arginine-rich protein-specific kinase 3) (SR-protein-specific kinase 3) (Serine/threonine-protein kinase 23)
Protein function 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 lami
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 79 → 228 Protein kinase domain Domain
PF00069 Pkinase 387 → 565 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal and heart muscle (PubMed:11063724, PubMed:39073169). Also expressed in the fetal brain. {ECO:0000269|PubMed:11063724, ECO:0000269|PubMed:39073169}.
Sequence 
MSASTGGGGDSGGSGGSSSSSQASCGPESSGSELALATPVPQMLQGLLGSDDEEQEDPKD
YCKGGYHPVKIGDVFNGRYHVVRKLGWGHFSTVWLCWDIQRKRFVALKVVKSAGHYTETA
VDEIKLLKCVRDSDPSDPKRETIVQLIDDFRISGVNGVHVCMVLEVLGHQLLKWIIKSNY
QGLPVPCVKSIVRQVLHGLDYLHTKCKIIHTDIKPENILLCVGDAYIRRLAAEATEWQQA
GAPPPSRSIVSTAPQEVLQTGKLSKNKRKKMRRKRKQQKRLLEERLRDLQRLEAMEAATQ
AEDSGLRLDGGSGSTSSSGCHPGGARAGPSPASSSPAPGGGRSLSAGSQTSGFSGSLFSP
ASCSILSGSSNQRETGGLLSPSTPFGASNLLVNPLEPQNADKIKIKIADLGNACWVHKHF
TEDIQTRQYRAVEVLIGAEYGPPADIWSTACMAFELATGDYLFEPHSGEDYSRDEDHIAH
IVELLGDIPPAFALSGRYSREFFNRRGELRHIHNLKHWGLYEVLMEKYEWPLEQATQFSA
FLLPMMEYIPEKRASAADCLQHPWLNP
Sequence length 567
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability N/A N/A GenCC