MYO7A

Myosin VIIA
Identifiers
Symbols	MYO7A; DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B
External IDs	OMIM: 276903 MGI: 104510 HomoloGene: 219 GeneCards: MYO7A Gene
Gene Ontology Molecular function • microfilament motor activity • nucleotide binding • motor activity • motor activity • actin binding • protein binding • calmodulin binding • ATP binding • protein domain specific binding • protein dimerization activity Cellular component • photoreceptor outer segment • photoreceptor inner segment • cytoplasm • lysosomal membrane • cytosol • cytoskeleton • apical plasma membrane • myosin complex • stereocilium • melanosome • synapse Biological process • phagolysosome assembly • lysosome organization • visual perception • sensory perception of sound • cell projection organization • actin filament-based movement • eye photoreceptor cell development • inner ear morphogenesis • auditory receptor cell differentiation • post-embryonic organ morphogenesis • sensory perception of light stimulus • equilibrioception • pigment granule localization • pigment granule transport • auditory receptor cell stereocilium organization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4647	17921
Ensembl	ENSG00000137474	ENSMUSG00000030761
UniProt	Q13402	P97479
RefSeq (mRNA)	NM_000260.3	NM_008663.2
RefSeq (protein)	NP_000251.3	NP_032689.2
Location (UCSC)	Chr 11: 76.84 – 76.93 Mb	Chr 7: 105.2 – 105.27 Mb
PubMed search	[1]	[2]

Myosin VIIA is protein that in humans is encoded by the MYO7A gene.^[1] Myosin VIIA is a member of the unconventional myosin superfamily of proteins.^[2] Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.

Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. Myosin VIIA is an unconventional myosin with a very short tail. Unconventional myosins have diverse functions in eukaryotic cells and are primarily thought to be involved in the movement or linkage of intra-cellular membranes and organelles to the actin cytoskeleton via interactions mediated by their highly divergent tail domains.

MYO7A is expressed in a number of mammalian tissues, including testis, kidney, lung, inner ear, retina and the ciliated epithelium of the nasal mucosa.

Clinical significance

Mutations in the MYO7A gene cause the Usher syndrome type 1B, a combined deafness/blindness disorder.^[2]

References

1. ^ Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA (September 1996). "Mapping of unconventional myosins in mouse and human". Genomics 36 (3): 431–9. doi:10.1006/geno.1996.0488. PMID 8884266. 
2. ^ ^{a b} Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD (March 1995). "Defective myosin VIIA gene responsible for Usher syndrome type 1B". Nature 374 (6517): 60–1. doi:10.1038/374060a0. PMID 7870171. 

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I

Further reading

• Wolfrum U (2004). "The cellular function of the usher gene product myosin VIIa is specified by its ligands.". Adv. Exp. Med. Biol. 533: 133–42. PMID 15180257. 
• el-Amraoui A, Sahly I, Picaud S et al. (1997). "Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells". Hum. Mol. Genet. 5 (8): 1171–8. doi:10.1093/hmg/5.8.1171. PMID 8842737. 
• Adato A, Weil D, Kalinski H et al. (1997). "Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins". Am. J. Hum. Genet. 61 (4): 813–21. doi:10.1086/514899. PMC 1716000. PMID 9382091. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1716000. 
• Liu XZ, Hope C, Walsh J et al. (1998). "Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome". Am. J. Hum. Genet. 63 (3): 909–12. doi:10.1086/302026. PMC 1377414. PMID 9718356. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377414. 
• Kimberling WJ, Möller CG, Davenport S et al. (1993). "Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11". Genomics 14 (4): 988–94. doi:10.1016/S0888-7543(05)80121-1. PMID 1478677. 
• Hasson T, Heintzelman MB, Santos-Sacchi J et al. (1995). "Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B". Proc. Natl. Acad. Sci. U.S.A. 92 (21): 9815–9. doi:10.1073/pnas.92.21.9815. PMC 40893. PMID 7568224. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=40893. 
• Guilford P, Ayadi H, Blanchard S et al. (1994). "A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene". Hum. Mol. Genet. 3 (6): 989–93. doi:10.1093/hmg/3.6.989. PMID 7951250. 
• Bement WM, Hasson T, Wirth JA et al. (1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6549–53. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44240. 
• Wagenaar M, ter Rahe B, van Aarem A et al. (1996). "Clinical findings in obligate carriers of type I Usher syndrome". Am. J. Med. Genet. 59 (3): 375–9. doi:10.1002/ajmg.1320590319. PMID 8599365. 
• Weil D, Levy G, Sahly I et al. (1996). "Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia". Proc. Natl. Acad. Sci. U.S.A. 93 (8): 3232–7. doi:10.1073/pnas.93.8.3232. PMC 39588. PMID 8622919. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=39588. 
• Tamagawa Y, Kitamura K, Ishida T et al. (1996). "A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene". Hum. Mol. Genet. 5 (6): 849–52. doi:10.1093/hmg/5.6.849. PMID 8776602. 
• Chen ZY, Hasson T, Kelley PM et al. (1997). "Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B". Genomics 36 (3): 440–8. doi:10.1006/geno.1996.0489. PMID 8884267. 
• Weston MD, Kelley PM, Overbeck LD et al. (1996). "Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients". Am. J. Hum. Genet. 59 (5): 1074–83. PMC 1914835. PMID 8900236. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914835. 
• Lévy G, Levi-Acobas F, Blanchard S et al. (1997). "Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB". Hum. Mol. Genet. 6 (1): 111–6. doi:10.1093/hmg/6.1.111. PMID 9002678. 
• Kelley PM, Weston MD, Chen ZY et al. (1997). "The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)". Genomics 40 (1): 73–9. doi:10.1006/geno.1996.4545. PMID 9070921. 
• Liu XZ, Walsh J, Mburu P et al. (1997). "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness". Nat. Genet. 16 (2): 188–90. doi:10.1038/ng0697-188. PMID 9171832. 
• Weil D, Küssel P, Blanchard S et al. (1997). "The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene". Nat. Genet. 16 (2): 191–3. doi:10.1038/ng0697-191. PMID 9171833. 
• Liu XZ, Walsh J, Tamagawa Y et al. (1997). "Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene". Nat. Genet. 17 (3): 268–9. doi:10.1038/ng1197-268. PMID 9354784. 

• This page uses information obtained from the IHOP reference website and from the National Institutes of Health NCBI database