Gene
srpk3
- ID
- ZDB-GENE-101025-2
- Name
- SRSF protein kinase 3
- Symbol
- srpk3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable protein serine/threonine kinase activity. Acts upstream of or within cerebellum morphogenesis and skeletal myofibril assembly. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; heart tube; muscle; and retina. Orthologous to human SRPK3 (SRSF protein kinase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Roychaudhury et al., 2024
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-srpk3 | Varshney et al., 2015 | |
CRISPR2-srpk3 | Varshney et al., 2015 | |
CRISPR3-srpk3 | Roychaudhury et al., 2024 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Intellectual developmental disorder, X-linked 114 | 301134 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
Binding_site | IPR017441 | Protein kinase, ATP binding site |
Domain | IPR000719 | Protein kinase domain |
Family | IPR051334 | Serine/Arginine-Rich Protein Kinases |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/Arginine-Rich Protein Kinases | Serine/threonine-protein kinase, active site |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8N7TFD0 | InterPro | 731 | |||||
UniProtKB:A0A8M2BE87 | InterPro | 409 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-109O5 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_689881 (1) | 2524 nt | ||
Genomic | GenBank:CU928118 (1) | 71603 nt | ||
Polypeptide | UniProtKB:A0A8N7TFD0 (1) | 731 aa |
- Roychaudhury, A., Lee, Y.R., Choi, T.I., Thomas, M.G., Kahn, T.N., Yousaf, H., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C.S., Kim, T.Y., Lee, K.H., Kyung, J.J., Wang, T., Ku, B., Chodirker, B.N., Hammer, M.F., Gottlob, I., Norton, W.H.J., Gorlei, R., Kim, H.G., Graziano, C., Pippucci, T., Lovino, E., Montanari, F., Severi, G., Toro, C., Boerkoel, C.F., Cha, H.S., Choi, C.Y., Kim, S., Yoon, J.Y., Gilmore, K., Vora, N.L., Davis, E.E., Chudley, A.E., Schwartz, C.E., and Kim, C.H. (2024) SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. Annals of neurology. 96(5):914-931
- Töpf, A., Cox, D., Zaharieva, I.T., Di Leo, V., Sarparanta, J., Jonson, P.H., Sealy, I.M., Smolnikov, A., White, R.J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K.M., Venturini, C., Vroling, B., Stenton, S.L., Cummings, B.B., Harris, E., Marini-Bettolo, C., Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E.M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A.H., Bodi, I., Bommireddipalli, S., Bönnemann, C.G., Cairns, A., Chiew, M.T., Claeys, K.G., Cooper, S.T., Davis, M.R., Donkervoort, S., Erasmus, C.E., Fassad, M.R., Genetti, C.A., Grosmann, C., Jungbluth, H., Kamsteeg, E.J., Lornage, X., Löscher, W.N., Malfatti, E., Manzur, A., Martí, P., Mongini, T.E., Muelas, N., Nishikawa, A., O'Donnell-Luria, A., Ogonuki, N., O'Grady, G.L., O'Heir, E., Paquay, S., Phadke, R., Pletcher, B.A., Romero, N.B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R.W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N.C., Wanschitz, J.V., Wraige, E., Yoshimura, K., Oates, E.C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J.J., MacArthur, D.G., Sarkozy, A., Cordell, H.J., Udd, B., Busch-Nentwich, E.M., Muntoni, F., Straub, V. (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. 56(3):395-407
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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