Gene
coq8b
- ID
- ZDB-GENE-060503-803
- Name
- coenzyme Q8B
- Symbol
- coq8b Nomenclature History
- Previous Names
-
- adck4 (1)
- si:dkey-114g7.2
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase activity. Acts upstream of or within glomerular basement membrane development and podocyte development. Predicted to be located in cytosol; mitochondrial membrane; and plasma membrane. Human ortholog(s) of this gene implicated in nephrotic syndrome type 9. Orthologous to human COQ8B (coenzyme Q8B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Burkhalter et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ashraf et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa6367 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24977 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32019 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35821 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-coq8b | N/A | Ashraf et al., 2013 |
| MO2-coq8b | N/A | Ashraf et al., 2013 |
| MO3-coq8b | N/A | Ashraf et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephrotic syndrome type 9 | Alliance | Nephrotic syndrome, type 9 | 615573 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ABC1 atypical kinase-like domain | ADCK3-like domain | Atypical kinase ADCK | Protein kinase-like domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A3QJU3 | InterPro | 624 | ||||
| UniProtKB:A0A8M9NYH4 | InterPro | 624 | ||||
| UniProtKB:A0A8M9PIF5 | InterPro | 656 | ||||
| UniProtKB:A0AB13ABG9 | InterPro | 624 |
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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 | DKEY-114G7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001424002 (1) | |||
| Genomic | GenBank:AL929103 (1) | 168630 nt | ||
| Polypeptide | UniProtKB:A0A8M9PIF5 (1) | 656 aa |
- Burkhalter, M.D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M.S., Donow, C., Angenendt, M., Investigators, C.N.F.C.H.D., Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S.S., Ware, S.M., Philipp, M. (2019) Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis. The Journal of Clinical Investigation. 130:2841-2855
- 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
- Zhang, C.Y., Yin, H.M., Wang, H., Su, D., Xia, Y., Yan, L.F., Fang, B., Liu, W., Wang, Y.M., Gu, A.H., Zhou, Y. (2017) Transforming growth factor-β1 regulates the nascent hematopoietic stem cell niche by promoting gluconeogenesis. Leukemia. 32(2):479-491
- Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.X., Vega-Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D.C., Avila-Casado, C., Paterson, A.D., Nitschké, P., Bole-Feysot, C., Cochat, P., Esteve-Rudd, J., Haberberger, B., Allen, S.J., Zhou, W., Airik, R., Otto, E.A., Barua, M., Al-Hamed, M.H., Kari, J.A., Evans, J., Bierzynska, A., Saleem, M.A., Böckenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D.O., Gok, F., Washburn, J., Wiggins, R.C., Choi, M., Lifton, R.P., Levy, S., Han, Z., Salviati, L., Prokisch, H., Williams, D.S., Pollak, M., Clarke, C.F., Pei, Y., Antignac, C., and Hildebrandt, F. (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J. Clin. Invest.. 123(12):5179-5189
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