Gene
cdkl5
- ID
- ZDB-GENE-081022-110
- Name
- cyclin dependent kinase like 5
- Symbol
- cdkl5 Nomenclature History
- Previous Names
-
- zgc:194395
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Enables cyclin-dependent protein serine/threonine kinase activity. Acts upstream of or within several processes, including neuronal action potential propagation; skeletal system development; and swimming behavior. Located in cytoplasm and nucleus. Is expressed in several structures, including fin; heart; muscle; notochord; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Rett syndrome; developmental and epileptic encephalopathy 2; and intellectual disability. Orthologous to human CDKL5 (cyclin dependent kinase like 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa16950 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21938 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24892 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa35110 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35111 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cdkl5 | Griffin et al., 2021 | |
| MO1-cdkl5 | N/A | Serrano et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 2 | Alliance | Developmental and epileptic encephalopathy 2 | 300672 |
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 | IPR050108 | Cyclin-dependent kinase |
| Family | IPR050117 | Mitogen-activated protein kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cyclin-dependent kinase | Mitogen-activated protein kinase | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:B9X2H6 | InterPro | 1080 | ||||||
| UniProtKB:B3DI12 | InterPro | 1039 | ||||||
| UniProtKB:A0A8M3B458 | InterPro | 887 | ||||||
| UniProtKB:B9X2H5 | InterPro | 1039 | ||||||
| UniProtKB:A0AB32TZ40 | InterPro | 1046 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-163F14 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194395 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001145768 (1) | 3427 nt | ||
| Genomic | GenBank:CR790368 (1) | 160194 nt | ||
| Polypeptide | UniProtKB:B9X2H6 (1) | 1080 aa |
- Adrião, A., Mariano, S., Mariano, J., Gavaia, P.J., Cancela, M.L., Vitorino, M., Conceição, N. (2023) mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour. Biomolecules. 13(5):
- Varela, T., Varela, D., Martins, G., Conceição, N., Cancela, M.L. (2022) Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder. Scientific Reports. 12:9325
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Postlethwait, J.H., Massaquoi, M.S., Farnsworth, D.R., Yan, Y.L., Guillemin, K., Miller, A.C. (2021) The SARS-CoV-2 receptor and other key components of the Renin-Angiotensin-Aldosterone System related to COVID-19 are expressed in enterocytes in larval zebrafish. Biology Open. 10(3):
- Serrano, R.J., Lee, C., Douek, A.M., Kaslin, J., Bryson-Richardson, R.J., Sztal, T.E. (2021) Novel pre-clinical model for CDKL5 Deficiency Disorder. Disease models & mechanisms. 15(3):
- Postlethwait, J.H., Farnsworth, D.R., Miller, A.C. (2020) An intestinal cell type in zebrafish is the nexus for the SARS-CoV-2 receptor and the Renin-Angiotensin-Aldosterone System that contributes to COVID-19 comorbidities. ZFIN Direct Data Submission.
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Katayama, S., Senga, Y., Oi, A., Miki, Y., Sugiyama, Y., Sueyoshi, N., Kameshita, I. (2016) Expression analyses of splice variants of zebrafish cyclin-dependent kinase-like 5 and its substrate, amphiphysin 1. Gene. 583(1):15-23
- 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
- Vastenhouw, N.L., Zhang, Y., Woods, I.G., Imam, F., Regev, A., Liu, X.S., Rinn, J., and Schier, A.F. (2010) Chromatin signature of embryonic pluripotency is established during genome activation. Nature. 464(7290):922-926
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