Gene
dnaaf3
- ID
- ZDB-GENE-091204-296
- Name
- dynein axonemal assembly factor 3
- Symbol
- dnaaf3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in motile cilium assembly. Acts upstream of or within axonemal dynein complex assembly and cilium movement. Predicted to be located in dynein axonemal particle. Is expressed in floor plate spinal cord region; neuromast; peripheral olfactory organ; and pronephros. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 2. Orthologous to human DNAAF3 (dynein axonemal assembly factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Mitchison et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-dnaaf3 | N/A | Mitchison et al., 2012 |
| MO2-dnaaf3 | N/A | Mitchison et al., 2012 |
| MO3-dnaaf3 | N/A | Mitchison et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 2 | Alliance | Ciliary dyskinesia, primary, 2 | 606763 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Domain of unknown function DUF4470 | Dynein assembly factor 3, axonemal | Dynein assembly factor 3, C-terminal domain |
|---|---|---|---|---|---|
| UniProtKB:F1Q7Z7 | InterPro | ||||
| UniProtKB:A0A8M9PY38 | InterPro | 469 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dnaaf3-201
(1)
|
Ensembl | 1,631 nt |
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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-224B4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068217254 (1) | 1560 nt | ||
| Genomic | GenBank:CR954298 (2) | 149754 nt | ||
| Polypeptide | UniProtKB:A0A8M9PY38 (1) | 469 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | DNAAF3 | 19 | Amino acid sequence comparison (1) |
- 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
- Zhao, L., Yuan, S., Cao, Y., Kallakuri, S., Li, Y., Kishimoto, N., Dibella, L., and Sun, Z. (2013) Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proceedings of the National Academy of Sciences of the United States of America. 110(31):12697-702
- Mitchison, H.M., Schmidts, M., Loges, N.T., Freshour, J., Dritsoula, A., Hirst, R.A., O'Callaghan, C., Blau, H., Al Dabbagh, M., Olbrich, H., Beales, P.L., Yagi, T., Mussaffi, H., Chung, E.M., Omran, H., and Mitchell, D.R. (2012) Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nature Genetics. 44(4):381-389
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