RSPH6A

RSPH6A
Identifiers
Aliases	RSPH6A, RSHL1, RSP4, RSP6, RSPH4B, radial spoke head 6 homolog A
External IDs	OMIM: 607548; MGI: 1927643; HomoloGene: 36476; GeneCards: RSPH6A; OMA:RSPH6A - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	45,815,308 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	18,808,372 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; human penis; ; mucosa of nose; ; human musculoskeletal system; ; muscular system; ; muscle; ; muscle;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; lumbar subsegment of spinal cord; ; mucosa of small intestine; ; primary visual cortex; ; pancreas; ; islet of Langerhans;
	More reference expression data
	More reference expression data
Orthologs
	81492
	83434
	ENSG00000104941
	ENSMUSG00000040866
	Q9H0K4
	Q8CDR2
	NM_030785
	NM_001159671; NM_031255
	NP_110412
	NP_001153143; NP_112545
	Wikidata
View/Edit Human	View/Edit Mouse

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.^[5]^[6]

Function

Radial spoke head protein 6 homolog A is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns.^[6]

Clinical significance

The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2).^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104941 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040866 – 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.
^ Eriksson M, Ansved T, Anvret M, Carey N (Mar 2001). "A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus". Biochem Biophys Res Commun. 281 (4): 835–41. doi:10.1006/bbrc.2001.4465. PMID 11237735.
^ ^a ^b ^c "Entrez Gene: RSHL1 radial spokehead-like 1".

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
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.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104941 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040866 – 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.

[pmid11237735-5] Eriksson M, Ansved T, Anvret M, Carey N (Mar 2001). "A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus". Biochem Biophys Res Commun. 281 (4): 835–41. doi:10.1006/bbrc.2001.4465. PMID 11237735.

[entrez-6] "Entrez Gene: RSHL1 radial spokehead-like 1".

[1]

[2]

[3]

[4]

[5]

[6]

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

Function

Clinical significance

References

Further reading