RSPH4A

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.[5][6]

RSPH4A
Identifiers
Aliases	RSPH4A, CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head 4 homolog A, radial spoke head component 4A
External IDs	OMIM: 612647 MGI: 3027894 HomoloGene: 71779 GeneCards: RSPH4A
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q22.1 Start 116,616,479 bp[1] End 116,632,985 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B1 Start 33,905,111 bp[2] End 33,916,021 bp[2]
Gene ontology Molecular function • molecular function Cellular component • cytoplasm • GO:0035085 axoneme • radial spoke • cell projection • motile cilium • cilium • cytoskeleton • cell nucleus • nucleoplasm • nucleolus Biological process • cilium movement • axoneme assembly • cilium morphogenesis • cilium movement involved in cell motility Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	345895	212892
Ensembl	ENSG00000111834	ENSMUSG00000039552
UniProt	Q5TD94	Q8BYM7
RefSeq (mRNA)	NM_001010892 NM_001161664	NM_001162957
RefSeq (protein)	NP_001010892 NP_001155136	NP_001156429
Location (UCSC)	Chr 6: 116.62 – 116.63 Mb	Chr 10: 33.91 – 33.92 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

TRadial spoke head protein 4 homolog A appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein.[5]

Clinical significance

Mutations in the RSPH4A gene are associated with primary ciliary dyskinesia.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000111834 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039552 - 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. "Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)".
6. Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Castleman VH, Romio L, Chodhari R, et al. (2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523.
• 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

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