RSPH1 explained

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.^[1]

Function

This protein is a part of axoneme, which forms the core of a cilium or flagellum.

Clinical significance

Mutations in RSPH1 are associated to Primary ciliary dyskinesia.^[2]

Further reading

• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Shetty J, Klotz KL, Wolkowicz MJ, etal . Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. . Gene . 396 . 1 . 93–107 . 2007 . 17451891 . 10.1016/j.gene.2007.02.031 . 1935023.
• Hu YH, Warnatz HJ, Vanhecke D, etal . Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. . BMC Genomics . 7 . 155 . 2006 . 16780588 . 10.1186/1471-2164-7-155 . 1526728 . free .
• Taketo MM, Araki Y, Matsunaga A, etal . Mapping of eight testis-specific genes to mouse chromosomes. . Genomics . 46 . 1 . 138–42 . 1997 . 9403069 . 10.1006/geno.1997.5014 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928.
• Tsuchida J, Nishina Y, Wakabayashi N, etal . Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein). . Dev. Biol. . 197 . 1 . 67–76 . 1998 . 9578619 . 10.1006/dbio.1998.8885 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .

Notes and References

1. Web site: RSPH1 radial spoke head component 1 [Homo sapiens (human) ]].
2. Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S . Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects . Am. J. Hum. Genet. . 93 . 3 . 561–70 . September 2013 . 23993197 . 10.1016/j.ajhg.2013.07.013 . 3769924.