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
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.32 Start 45,795,713 bp [1] End 45,815,308 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 A3 Start 18,788,615 bp [2] End 18,808,372 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland left lobe of thyroid gland human penis human musculoskeletal system muscular system muscle organ muscle organ connective tissue adipose tissue integument Top expressed in seminiferous tubule spermatid spermatocyte mucosa of small intestine pancreas islet of Langerhans More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 81492 83434 Ensembl ENSG00000104941 ENSMUSG00000040866 UniProt Q9H0K4 Q8CDR2 RefSeq (mRNA) NM_030785 NM_001159671 NM_031255 RefSeq (protein) NP_110412 NP_001153143 NP_112545 Location (UCSC) Chr 19: 45.8 – 45.82 Mb Chr 7: 18.79 – 18.81 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000104941 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: RSHL1 radial spokehead-like 1".

Further reading

• 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.