RSPH9

RSPH9
Identifiers
AliasesRSPH9, C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog
External IDsMGI: 1922814 HomoloGene: 12606 GeneCards: RSPH9
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6p21.1Start43,645,046 bp[1]
End43,672,599 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 17: 46.12 – 46.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172426 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023966 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)".
  6. 1 2 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.


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