| Myosin VIIA
|
| Identifiers
|
| Symbol(s)
| MYO7A; DFNA11; DFNB2; MYU7A; NSRD2; USH1B
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| External IDs
| OMIM: 276903 MGI: 104510 Homologene: 219
|
| Gene Ontology
|
| Molecular Function:
| • microfilament motor activity
• nucleotide binding
• actin binding
• binding
• calmodulin binding
• ATP binding
• protein dimerization activity
|
| Cellular Component:
| • photoreceptor outer segment
• photoreceptor inner segment
• cytoplasm
• lysosomal membrane
• cytosol
• cytoskeleton
• cilium
• apical plasma membrane
• myosin complex
• melanosome
• synapse
|
| Biological Process:
| • phagolysosome formation
• lysosome organization and biogenesis
• visual perception
• sensory perception of sound
• cell projection organization and biogenesis
• actin filament-based movement
• sensory cilium biogenesis
• inner ear morphogenesis
• auditory receptor cell differentiation
• post-embryonic organ morphogenesis
• response to stimulus
• pigment granule localization
• pigment granule transport
|
|
| Orthologs
|
|
| Human
| Mouse
|
| Entrez
| 4647
| 17921
|
| Ensembl
| na
| ENSMUSG00000030761
|
| Uniprot
| na
| P97479
|
| Refseq
| NM_000260 (mRNA)
NP_000251 (protein)
| NM_008663 (mRNA)
NP_032689 (protein)
|
| Location
| na
| Chr 7: 97.93 - 97.98 Mb
|
| Pubmed search
| [1]
| [2]
|
Additional recommended knowledge
Myosin VIIA (MYO7A) is a member of the unconventional myosin superfamily of proteins. Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.
UniProt Q13402, Q59F32, Q92821
OMIM 276900, 601317
NCBI Gene 4647
NCBI RefSeq NP_000251
NCBI RefSeq NM_000260
NCBI UniGene 4647
NCBI Accession AAC50722, AAC50218
Unconventional myosins have diverse functions in eukaryotic cells and are primarily though 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.
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.
- 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. 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. PMID 7568224.
- Weil D, Blanchard S, Kaplan J, et al. (1995). "Defective myosin VIIA gene responsible for Usher syndrome type 1B.". Nature 374 (6517): 60-1. doi:10.1038/374060a0. PMID 7870171.
- 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. 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. PMID 8022818.
- 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. PMID 8622919.
- 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. PMID 8776602.
- 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. PMID 8842737.
- Hasson T, Skowron JF, Gilbert DJ, et al. (1997). "Mapping of unconventional myosins in mouse and human.". Genomics 36 (3): 431-9. doi:10.1006/geno.1996.0488. PMID 8884266.
- 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. PMID 8900236.
- 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. 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.
- 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. PMID 9382091.
- 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. PMID 9718356.
This page uses information obtained from the IHOP reference website and from the National Institutes of Health NCBI database
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