MYO3A

MYO3A
Identifiers
Aliases	MYO3A , DFNB30, myosin IIIA
External IDs	OMIM: 606808 MGI: 2183924 HomoloGene: 49486 GeneCards: MYO3A
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10p12.1 Start 25,934,229 bp [1] End 26,212,532 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 A3 Start 22,227,503 bp [2] End 22,618,252 bp [2]
RNA expression pattern Bgee Top expressed in islet of Langerhans testicle kidney stomach popliteal artery sural nerve More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity protein kinase activity nucleotide binding ADP binding calmodulin binding kinase activity microfilament motor activity protein serine/threonine kinase activity plus-end directed microfilament motor activity actin binding cytoskeletal motor activity ATP binding GO:0001948 protein binding Cellular component filamentous actin filopodium cytoskeleton myosin complex cytoplasm stereocilium tip stereocilium filopodium tip cell projection Biological process phosphorylation response to stimulus protein phosphorylation protein autophosphorylation visual perception sensory perception of sound cochlea morphogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	53904	667663
Ensembl	ENSG00000095777	ENSMUSG00000025716
UniProt	Q8NEV4	Q8K3H5
RefSeq (mRNA)	NM_017433 NM_001368265	NM_148413
RefSeq (protein)	NP_059129 NP_001355194	n/a
Location (UCSC)	Chr 10: 25.93 – 26.21 Mb	Chr 2: 22.23 – 22.62 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000095777 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025716 - 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. 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.
6. "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. 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.