From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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 .
[5]
This protein is a part of
axoneme , which forms the core of a
cilium or
flagellum .
Mutations in RSPH1 are associated to
Primary ciliary dyskinesia .
[6]
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000160188 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000024033 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"RSPH1 radial spoke head component 1 [ Homo sapiens (human) ]" .
^ 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 (September 2013).
"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.
doi :
10.1016/j.ajhg.2013.07.013 .
PMC
3769924 .
PMID
23993197 .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Shetty J, Klotz KL, Wolkowicz MJ, et al. (2007).
"Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia" . Gene . 396 (1): 93–107.
doi :
10.1016/j.gene.2007.02.031 .
PMC
1935023 .
PMID
17451891 .
Hu YH, Warnatz HJ, Vanhecke D, et al. (2006).
"Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins" . BMC Genomics . 7 : 155.
doi :
10.1186/1471-2164-7-155 .
PMC
1526728 .
PMID
16780588 .
Taketo MM, Araki Y, Matsunaga A, et al. (1997). "Mapping of eight testis-specific genes to mouse chromosomes". Genomics . 46 (1): 138–42.
doi :
10.1006/geno.1997.5014 .
PMID
9403069 .
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 .
Tsuchida J, Nishina Y, Wakabayashi N, et al. (1998).
"Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein)" . Dev. Biol . 197 (1): 67–76.
doi :
10.1006/dbio.1998.8885 .
PMID
9578619 .
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 .