Gene
nek1
- ID
- ZDB-GENE-040730-1
- Name
- NIMA-related kinase 1
- Symbol
- nek1 Nomenclature History
- Previous Names
-
- DKEY-15J16.6 (1)
- si:dkey-15j16.5
- si:dkey-171k19.5
- wu:fc38c08
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase activity. Acts upstream of or within cilium assembly and cranial skeletal system development. Is expressed in forebrain; head; midbrain; and retina. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 24; asphyxiating thoracic dystrophy; orofaciodigital syndrome II; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Laboissonniere et al., 2018
- 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-nek1 | Thyme, 2020 | |
| CRISPR2-nek1 | Thyme, 2020 | |
| CRISPR3-nek1 | Thyme, 2020 | |
| CRISPR4-nek1 | Thyme, 2020 | |
| MO1-nek1 | N/A | Wheway et al., 2015 |
| MO2-nek1 | N/A | Wheway et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 24 | Alliance | {Amyotrophic lateral sclerosis, susceptibility to, 24} | 617892 |
| orofaciodigital syndrome II | Alliance | ?Orofaciodigital syndrome II | 252100 |
| short-rib thoracic dysplasia 6 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 6 with or without polydactyly | 263520 |
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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 | IPR051131 | NEK Ser/Thr protein kinase family, NIMA subfamily |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | NEK Ser/Thr protein kinase family, NIMA subfamily | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AW79 | InterPro | 1412 | |||||
| UniProtKB:A0A8M3AT70 | InterPro | 1391 | |||||
| UniProtKB:A0A8M3B435 | InterPro | 1413 | |||||
| UniProtKB:A0A8M3B439 | InterPro | 1383 | |||||
| UniProtKB:A0A8M3ALI1 | InterPro | 1412 |
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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 | CH211-87E4 | ZFIN Curated Data | |
| Contained in | BAC | CH211-114C9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-15J16 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-171K19 | ZFIN Curated Data | |
| Encodes | EST | fc38c08 | ||
| Has Artifact | cDNA | MGC:56141 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009294677 (1) | 5521 nt | ||
| Genomic | GenBank:BX255904 (1) | 228691 nt | ||
| Polypeptide | UniProtKB:A0A8M3B435 (1) | 1413 aa |
- Baumann, G., Meckel, T., Böhm, K., Shih, Y.H., Dickhaut, M., Reichardt, T., Pilakowski, J., Pehl, U., Schmidt, B. (2022) Illuminating a Dark Kinase: Structure-Guided Design, Synthesis, and Evaluation of a Potent Nek1 Inhibitor and Its Effects on the Embryonic Zebrafish Pronephros. Journal of medicinal chemistry. 65:1265-1282
- Tu, J., Yu, S., Li, J., Ren, M., Zhang, Y., Luo, J., Sun, K., Lv, Y., Han, Y., Huang, Y., Ren, X., Jiang, T., Tang, Z., Williams, M.T.S., Lu, Q., Liu, M. (2022) Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development (Cambridge, England). 149(17)
- Laboissonniere, L.A., Smith, C.L., Mesenbrink, J., Chowdhury, R., Burney, A., Lang, M., Sierra, M., Stark, A., Maldonado-Casalduc, G., Muller, M., Trimarchi, J.M. (2018) ALS-associated genes display CNS expression in the developing zebrafish. Gene expression patterns : GEP. 30:14-31
- 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
- Wheway, G., Schmidts, M., Mans, D.A., Szymanska, K., Nguyen, T.M., Racher, H., Phelps, I.G., Toedt, G., Kennedy, J., Wunderlich, K.A., Sorusch, N., Abdelhamed, Z.A., Natarajan, S., Herridge, W., van Reeuwijk, J., Horn, N., Boldt, K., Parry, D.A., Letteboer, S.J., Roosing, S., Adams, M., Bell, S.M., Bond, J., Higgins, J., Morrison, E.E., Tomlinson, D.C., Slaats, G.G., van Dam, T.J., Huang, L., Kessler, K., Giessl, A., Logan, C.V., Boyle, E.A., Shendure, J., Anazi, S., Aldahmesh, M., Al Hazzaa, S., Hegele, R.A., Ober, C., Frosk, P., Mhanni, A.A., Chodirker, B.N., Chudley, A.E., Lamont, R., Bernier, F.P., Beaulieu, C.L., Gordon, P., Pon, R.T., Donahue, C., Barkovich, A.J., Wolf, L., Toomes, C., Thiel, C.T., Boycott, K.M., McKibbin, M., Inglehearn, C.F., Stewart, F., Omran, H., Huynen, M.A., Sergouniotis, P.I., Alkuraya, F.S., Parboosingh, J.S., Innes, A.M., Willoughby, C.E., Giles, R.H., Webster, A.R., Ueffing, M., Blacque, O., Gleeson, J.G., Wolfrum, U., Beales, P.L., Gibson, T., Doherty, D., Mitchison, H.M., Roepman, R., Johnson, C.A. (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature cell biology. 17:1074-87
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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