Gene
dnaaf19
- ID
- ZDB-GENE-040718-253
- Name
- dynein axonemal assembly factor 19
- Symbol
- dnaaf19 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Acts upstream of or within axonemal dynein complex assembly; cerebrospinal fluid circulation; and determination of heart left/right asymmetry. Located in axoneme. Is expressed in several structures, including Kupffer's vesicle; anterior lateral plate mesoderm; forerunner cell group; otic placode; and peripheral olfactory organ. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 17. Orthologous to human DNAAF19 (dynein axonemal assembly factor 19).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| dnaaf19_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| tn222a | Allele with one point mutation | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-dnaaf19 | N/A | Panizzi et al., 2012 |
| MO2-dnaaf19 | N/A | Panizzi et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 17 | Alliance | Ciliary dyskinesia, primary, 17 | 614679 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| primary ciliary dyskinesia | dnaaf19tn222a/tn222a | standard conditions | (2) |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Coiled-coil domain-containing protein 103 | Dynein attachment factor, N-terminal | RNA-polymerase II-associated protein 3-like, C-terminal domain |
|---|---|---|---|---|
|
UniProtKB:Q6DGB6
|
247 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc103-201
(1)
|
Ensembl | 2,291 nt | ||
| ncRNA |
ccdc103-002
(1)
|
Ensembl | 929 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-ccdc103 | polyclonal | Rabbit |
|
1 | |||
| Ab1-ccdc103 | polyclonal | Guinea pig |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-283B1 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:100838 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002753 (1) | 2282 nt | ||
| Genomic | GenBank:CR396582 (1) | 150625 nt | ||
| Polypeptide | UniProtKB:Q6DGB6 (1) | 247 aa |
- Ezhkova, D., Schwarzer, S., Spieß, S., Geffarth, M., Machate, A., Zöller, D., Stucke, J., Alexopoulou, D., Lesche, M., Dahl, A., Hans, S. (2023) Transcriptome analysis reveals an Atoh1b-dependent gene set downstream of Dlx3b/4b during early inner ear development in zebrafish. Biology Open. 12(6):
- Cardenas-Rodriguez, M., Austin-Tse, C., Bergboer, J.G.M., Molinari, E., Sugano, Y., Bachmann-Gagescu, R., Sayer, J.A., Drummond, I.A. (2021) Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science. 134(14):
- Falkenberg, L.G., Beckman, S.A., Ravisankar, P., Dohn, T.E., Waxman, J.S. (2021) Ccdc103 promotes myeloid cell proliferation and migration independent of motile cilia. Disease models & mechanisms. 14(5):
- Olstad, E.W., Ringers, C., Hansen, J.N., Wens, A., Brandt, C., Wachten, D., Yaksi, E., Jurisch-Yaksi, N. (2018) Ciliary Beating Compartmentalizes Cerebrospinal Fluid Flow in the Brain and Regulates Ventricular Development. Current biology : CB. 29(2):229-241.e6
- Zhang, X., Jia, S., Chen, Z., Chong, Y.L., Xie, H., Feng, D., Wu, X., Song, D.Z., Roy, S., Zhao, C. (2018) Cilia-driven cerebrospinal fluid flow directs expression of urotensin neuropeptides to straighten the vertebrate body axis. Nature Genetics. 50(12):1666-1673
- Reiten, I., Uslu, F.E., Fore, S., Pelgrims, R., Ringers, C., Diaz Verdugo, C., Hoffman, M., Lal, P., Kawakami, K., Pekkan, K., Yaksi, E., Jurisch-Yaksi, N. (2017) Motile-Cilia-Mediated Flow Improves Sensitivity and Temporal Resolution of Olfactory Computations. Current biology : CB. 27(2):166-174
- Shim, H., Kim, J.H., Kim, C.Y., Hwang, S., Kim, H., Yang, S., Lee, J.E., Lee, I. (2016) Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. Nucleic acids research. 44:9611-9623
- Song, Z., Zhang, X., Jia, S., Yelick, P.C., Zhao, C. (2016) Zebrafish as a Model for Human Ciliopathies. Journal of genetics and genomics = Yi chuan xue bao. 43:107-20
- 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
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
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