Gene
ccdc40
- ID
- ZDB-GENE-060503-723
- Name
- coiled-coil domain 40 molecular ruler complex subunit
- Symbol
- ccdc40 Nomenclature History
- Previous Names
-
- im:7149866
- lok
- si:dkey-237i9.5
- wu:fb11d02
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Involved in epithelial cilium movement involved in determination of left/right asymmetry. Acts upstream of or within several processes, including axoneme assembly; determination of heart left/right asymmetry; and epithelial cilium movement involved in extracellular fluid movement. Predicted to be located in cell projection. Predicted to be active in cilium and cytoplasm. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; nervous system; pronephric duct; and pronephric mesoderm. Used to study primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 (coiled-coil domain 40 molecular ruler complex subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149866 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la029191Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| m505 | unknown | Unknown | Unknown | ENU | |
| sa8996 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13373 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tj8 | unknown | Unknown | Unknown | ENU | |
| tl215 | unknown | Unknown | Unknown | ENU | |
| tm138a | unknown | Unknown | Unknown | ENU | |
| to237b | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ts277 | unknown | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ccdc40 | N/A | Becker-Heck et al., 2011 |
| MO2-ccdc40 | N/A | Becker-Heck et al., 2011 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 15 | Alliance | Ciliary dyskinesia, primary, 15 | 613808 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| primary ciliary dyskinesia | ccdc40to237b/to237b | standard conditions | Song et al., 2016 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR037386 | Coiled-coil domain-containing protein 40 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Coiled-coil domain-containing protein 40 |
|---|---|---|---|
| UniProtKB:Q56A40 | InterPro | 941 | |
| UniProtKB:A0A8M3B0F1 | InterPro | 933 | |
| UniProtKB:A0AB32TPW0 | InterPro | 887 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc40-202
(1)
|
Ensembl | 3,370 nt | ||
| ncRNA |
ottdart00000054945
(1)
|
Ensembl | 583 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-31G6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-210O7 | ||
| Contained in | BAC | DKEY-237I9 | ZFIN Curated Data | |
| Encodes | EST | fb11d02 | ||
| Encodes | EST | IMAGE:7149866 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001271813 (1) | 3381 nt | ||
| Genomic | GenBank:BX571728 (1) | 229059 nt | ||
| Polypeptide | UniProtKB:Q56A40 (1) | 941 aa |
- Rayamajhi, D., Ege, M., Ukhanov, K., Ringers, C., Zhang, Y., Jung, I., D'Gama, P.P., Li, S.S., Cosacak, M.I., Kizil, C., Park, H.C., Yaksi, E., Martens, J.R., Brody, S.L., Jurisch-Yaksi, N., Roy, S. (2024) The forkhead transcription factor Foxj1 controls vertebrate olfactory cilia biogenesis and sensory neuron differentiation. PLoS Biology. 22:e3002468e3002468
- Grimes, D.T., Boswell, C.W., Morante, N.F., Henkelman, R.M., Burdine, R.D., Ciruna, B. (2016) Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature. Science (New York, N.Y.). 352:1341-4
- Jaffe, K.M., Grimes, D.T., Schottenfeld-Roames, J., Werner, M.E., Ku, T.J., Kim, S.K., Pelliccia, J.L., Morante, N.F., Mitchell, B.J., Burdine, R.D. (2016) c21orf59/kurly Controls Both Cilia Motility and Polarization. Cell Reports. 14(8):1841-9
- 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
- Wei, S., Shang, H., Cao, Y., Wang, Q. (2016) The coiled-coil domain containing protein Ccdc136b antagonizes maternal Wnt/β-catenin activity during zebrafish dorsoventral axial patterning. Journal of genetics and genomics = Yi chuan xue bao. 43(7):431-8
- Zhu, P., Xu, X., Lin, X. (2015) Both ciliary and non-ciliary functions of Foxj1a confer Wnt/β-catenin signaling in zebrafish left-right patterning. Biology Open. 4(11):1376-86
- 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
- Khodiyar, V.K., Howe, D., Talmud, P.J., Breckenridge, R., Lovering, R.C. (2013) From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development.. F1000 Research. 2:1-17
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Becker-Heck, A., Zohn, I.E., Okabe, N., Pollock, A., Lenhart, K.B., Sullivan-Brown, J., McSheene, J., Loges, N.T., Olbrich, H., Haeffner, K., Fliegauf, M., Horvath, J., Reinhardt, R., Nielsen, K.G., Marthin, J.K., Baktai, G., Anderson, K.V., Geisler, R., Niswander, L., Omran, H., and Burdine, R.D. (2011) The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nature Genetics. 43(1):79-84
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