RSPH1

RSPH1
Identifiers
Aliases	RSPH1 , CILD24, RSP44, RSPH10A, TSA2, TSGA2, CT79, radial spoke head 1 homolog, radial spoke head component 1
External IDs	OMIM: 609314; MGI: 1194909; HomoloGene: 11905; GeneCards: RSPH1; OMA:RSPH1 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.3 Start 42,472,486 bp [1] End 42,496,246 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 B1|17 15.94 cM Start 31,473,993 bp [2] End 31,496,357 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell right uterine tube mucosa of paranasal sinus olfactory zone of nasal mucosa sperm trachea epithelium of nasopharynx pancreatic ductal cell caput epididymis nasal epithelium Top expressed in seminiferous tubule spermatocyte spermatid Epithelium of choroid plexus olfactory epithelium right lung lobe utricle vestibular sensory epithelium left lung left lung lobe More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm condensed nuclear chromosome meiotic spindle outer dense fiber cytosol cell projection motile cilium sperm flagellum cilium nucleus Biological process meiosis axoneme assembly spermatid development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 89765 22092 Ensembl ENSG00000160188 ENSMUSG00000024033 UniProt Q8WYR4 Q8VIG3 RefSeq (mRNA) NM_001286506 NM_080860 NM_025290 NM_001364916 RefSeq (protein) NP_001273435 NP_543136 NP_079566 NP_001351845 Location (UCSC) Chr 21: 42.47 – 42.5 Mb Chr 17: 31.47 – 31.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000160188 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024033 – 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. "RSPH1 radial spoke head component 1 [ Homo sapiens (human) ]".
6. 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.

Further reading

• 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.