Myosin-IIIa
MYO3A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | MYO3A, myosin IIIA, DFNB30 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606808; MGI: 2183924; HomoloGene: 49486; GeneCards: MYO3A; OMA:MYO3A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Myosin-IIIa is a protein that in humans is encoded by the MYO3A gene.[5][6]
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000095777 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025716 – 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.
- ^ Dose AC, Burnside B (Sep 2000). "Cloning and chromosomal localization of a human class III myosin". Genomics. 67 (3): 333–42. doi:10.1006/geno.2000.6256. PMID 10936054.
- ^ a b "Entrez Gene: MYO3A myosin IIIA".
Further reading
- Walsh T, Walsh V, Vreugde S, et al. (2002). "From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30". Proc. Natl. Acad. Sci. U.S.A. 99 (11): 7518–23. Bibcode:2002PNAS...99.7518W. doi:10.1073/pnas.102091699. PMC 124268. PMID 12032315.
- 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.
- Komaba S, Inoue A, Maruta S, et al. (2003). "Determination of human myosin III as a motor protein having a protein kinase activity". J. Biol. Chem. 278 (24): 21352–60. doi:10.1074/jbc.M300757200. PMID 12672820.
- Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
- Fu GK, Wang JT, Yang J, et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
- Kambara T, Komaba S, Ikebe M (2007). "Human myosin III is a motor having an extremely high affinity for actin". J. Biol. Chem. 281 (49): 37291–301. doi:10.1074/jbc.M603823200. PMID 17012748.
- Schneider ME, Dosé AC, Salles FT, et al. (2006). "A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression". J. Neurosci. 26 (40): 10243–52. doi:10.1523/JNEUROSCI.2812-06.2006. PMC 6674622. PMID 17021180.
- Dosé AC, Ananthanarayanan S, Moore JE, et al. (2007). "Kinetic mechanism of human myosin IIIA". J. Biol. Chem. 282 (1): 216–31. doi:10.1074/jbc.M605964200. PMID 17074769.
- Cirilo JA Jr, Gunther LK, Yengo CM (2021). "Functional Role of Class III Myosins in Hair Cells". Front. Cell Dev. Biol. 9: 643856. doi:10.3389/fcell.2021.643856. PMC 7947357. PMID 33718386.
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