MYO3A

From Wikipedia, the free encyclopedia

Myosin IIIA

Identifiers

MYO3A; DFNB30

External IDs

OMIM: 606808 MGI: 2183924 HomoloGene: 49486

Gene ontology
Molecular Function:	• nucleotide binding • motor activity • actin binding • protein kinase activity • protein serine/threonine kinase activity • calmodulin binding • ATP binding • transferase activity • actin-dependent ATPase activity • ADP binding • plus-end directed microfilament motor activity
Cellular Component:	• cytoskeleton • myosin complex • filopodium • filamentous actin
Biological Process:	• protein amino acid phosphorylation • visual perception • sensory perception of sound • protein amino acid autophosphorylation • response to stimulus

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_017433 (mRNA)
NP_059129 (protein)

XM_972633 (mRNA)
XP_977727 (protein)

Location

Chr 10: 26.26 - 26.54 Mb

n/a

Pubmed search

[1]

[2]

Myosin IIIA, also known as MYO3A, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYO3A myosin IIIA.

[edit] Further reading

Dosé AC, Burnside B (2000). "Cloning and chromosomal localization of a human class III myosin.". Genomics 67 (3): 333–42. doi:10.1006/geno.2000.6256. PMID 10936054.
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. doi:10.1073/pnas.102091699. 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. 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. 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. doi:10.1073/pnas.0404720101. 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. doi:10.1126/science.1105776. PMID 15761153.
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. 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.