RSPH9

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.[5][6]

RSPH9
Identifiers
Aliases	RSPH9, C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog, radial spoke head component 9
External IDs	OMIM: 612648 MGI: 1922814 HomoloGene: 12606 GeneCards: RSPH9
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.1 Start 43,645,036 bp[1] End 43,672,600 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 C Start 46,122,035 bp[2] End 46,144,216 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • cell projection • motile cilium • cilium • cytoskeleton • GO:0035085 axoneme • 9+2 motile cilium • radial spoke Biological process • cilium movement involved in cell motility • cilium movement • motile cilium assembly • axoneme assembly • cilium morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	221421	75564
Ensembl	ENSG00000172426	ENSMUSG00000023966
UniProt	Q9H1X1	Q9D9V4
RefSeq (mRNA)	NM_001193341 NM_152732	NM_029338
RefSeq (protein)	NP_001180270 NP_689945	NP_083614
Location (UCSC)	Chr 6: 43.65 – 43.67 Mb	Chr 17: 46.12 – 46.14 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies .[5]

Clinical significance

Mutation in this gene are associated with primary ciliary dyskinesia.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000172426 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023966 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)".
6. Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523.

Further reading

• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Reish O, Slatkin M, Chapman-Shimshoni D, et al. (2010). "Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families". Ann. Hum. Genet. 74 (2): 117–25. doi:10.1111/j.1469-1809.2009.00559.x. PMC 2853723. PMID 20070851.

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia