Gene
rsph9
- ID
- ZDB-GENE-051120-129
- Name
- radial spoke head component 9
- Symbol
- rsph9 Nomenclature History
- Previous Names
-
- si:ch211-117l16.2
- zgc:123211
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Involved in axoneme assembly and cilium movement. Acts upstream of or within cilium assembly. Located in axoneme and kinocilium. Is expressed in forerunner cell group; nervous system; pronephric duct; and spinal cord neural rod. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 12. Orthologous to human RSPH9 (radial spoke head component 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Sedykh et al., 2016
- 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-rsph9 | Sedykh et al., 2016 | |
| MO1-rsph9 | N/A | Castleman et al., 2009 |
| MO2-rsph9 | N/A | Castleman et al., 2009 |
| MO3-rsph9 | N/A | Sedykh et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary ciliary dyskinesia 12 | Alliance | Ciliary dyskinesia, primary, 12 | 612650 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Radial spokehead-like protein | Radial spoke head protein 9 homolog |
|---|---|---|---|---|
| UniProtKB:Q5TYW6 | InterPro | 277 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-rsph9 | polyclonal | Rabbit |
|
Sigma-Aldrich
|
3 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-117L16 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:123211 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001030113 (1) | 1090 nt | ||
| Genomic | GenBank:BX649467 (1) | 74769 nt | ||
| Polypeptide | UniProtKB:Q5TYW6 (1) | 277 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):
- Sedykh, I., TeSlaa, J.J., Tatarsky, R.L., Keller, A.N., Toops, K.A., Lakkaraju, A., Nyholm, M.K., Wolman, M.A., Grinblat, Y. (2016) Novel roles for the radial spoke head protein 9 in neural and neurosensory cilia. Scientific Reports. 6:34437
- 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
- Wang, L., Fu, C., Fan, H., Du, T., Dong, M., Chen, Y., Jin, Y., Zhou, Y., Deng, M., Gu, A., Jing, Q., Liu, T., and Zhou, Y. (2013) miR-34b regulates multiciliogenesis during organ formation in zebrafish. Development (Cambridge, England). 140(13):2755-2764
- Castleman, V.H., Romio, L., Chodhari, R., Hirst, R.A., de Castro, S.C., Parker, K.A., Ybot-Gonzalez, P., Emes, R.D., Wilson, S.W., Wallis, C., Johnson, C.A., Herrera, R.J., Rutman, A., Dixon, M., Shoemark, A., Bush, A., Hogg, C., Gardiner, R.M., Reish, O., Greene, N.D., O'Callaghan, C., Purton, S., Chung, E.M., and Mitchison, H.M. (2009) Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. American journal of human genetics. 84(2):197-209
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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