RSPH4A

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; OMA:RSPH4A - orthologs
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 33,781,107 bp[2] End 33,792,017 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube olfactory zone of nasal mucosa mucosa of paranasal sinus bronchial epithelial cell gonad epithelium of nasopharynx testicle anterior pituitary right lung ventricular zone Top expressed in Epithelium of choroid plexus olfactory epithelium lumbar subsegment of spinal cord otolith organ utricle transitional epithelium of urinary bladder paraventricular nucleus of hypothalamus right lung lobe habenula embryo More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component cytoplasm axoneme radial spoke cell projection motile cilium cilium cytoskeleton nucleus nucleoplasm nucleolus Biological process cilium movement axoneme assembly cilium assembly 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: 33.78 – 33.79 Mb PubMed search [3] [4]
Wikidata
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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]

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. Bibcode:2002PNAS...9916899M. 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.