MYO1A
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| Myosin IA
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| Identifiers | ||||||||||||||
| Symbol(s) | MYO1A; MIHC; BBMI; DFNA48; MYHL | |||||||||||||
| External IDs | OMIM: 601478 MGI: 107732 Homologene: 21113 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 4640 | 432516 | ||||||||||||
| Ensembl | ENSG00000166866 | ENSMUSG00000025401 | ||||||||||||
| Uniprot | Q9UBC5 | na | ||||||||||||
| Refseq | NM_005379 (mRNA) NP_005370 (protein) | XM_001005647 (mRNA) XP_001005647 (protein) | ||||||||||||
| Location | Chr 12: 55.71 - 55.73 Mb | Chr 10: 127.11 - 127.12 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Myosin IA, also known as Brush-border myosin-1 and MYO1A, is a human gene.[1]
The protein encoded by this gene belongs to the myosin superfamily. Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force. Each myosin has a conserved N-terminal motor domain that contains both ATP-binding and actin-binding sequences. Following the motor domain is a light-chain-binding 'neck' region containing 1-6 copies of a repeat element, the IQ motif, that serves as a binding site for calmodulin or other members of the EF-hand superfamily of calcium-binding proteins. At the C-terminus, each myosin class has a distinct tail domain that serves in dimerization, membrane binding, protein binding, and/or enzymatic activities and targets each myosin to its particular subcellular location. The kidney epithelial cell line, LLC-PK1-CL4 (CL4), forms a well ordered brush border (BB) on its apical surface. Experiments indicate that the brush border population of the encoded protein turns over rapidly, while its head and tail domains interact transiently with the core actin and plasma membrane, respectively. A rapidly exchanging pool of the protein encoded by this gene envelops an actin core bundle that, by comparison, is static in structure.[1]
References
Further reading
- Hofmann WA, Johnson T, Klapczynski M, et al. (2007). "From transcription to transport: emerging roles for nuclear myosin I.". Biochem. Cell Biol. 84 (4): 418-26. doi:10.1139/o06-069. PMID 16936815.
- Hoshimaru M, Fujio Y, Sobue K, et al. (1990). "Immunochemical evidence that myosin I heavy chain-like protein is identical to the 110-kilodalton brush-border protein.". J. Biochem. 106 (3): 455-9. PMID 2606897.
- 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.
- Durrbach A, Collins K, Matsudaira P, et al. (1996). "Brush border myosin-I truncated in the motor domain impairs the distribution and the function of endocytic compartments in an hepatoma cell line.". Proc. Natl. Acad. Sci. U.S.A. 93 (14): 7053-8. PMID 8692943.
- 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.
- Skowron JF, Bement WM, Mooseker MS (1999). "Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells.". Cell Motil. Cytoskeleton 41 (4): 308-24. doi:<308::AID-CM4>3.0.CO;2-J 10.1002/(SICI)1097-0169(1998)41:4<308::AID-CM4>3.0.CO;2-J. PMID 9858156.
- Li W, Wang J, Coluccio LM, et al. (2000). "Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes.". J. Histochem. Cytochem. 48 (1): 89-94. PMID 10653589.
- Otterbein LR, Graceffa P, Dominguez R (2001). "The crystal structure of uncomplexed actin in the ADP state.". Science 293 (5530): 708-11. doi:10.1126/science.1059700. PMID 11474115.
- Tyska MJ, Mooseker MS (2002). "MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells.". Biophys. J. 82 (4): 1869-83. PMID 11916846.
- 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.
- D'Adamo P, Pinna M, Capobianco S, et al. (2003). "A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.". Hum. Genet. 112 (3): 319-20. doi:10.1007/s00439-002-0880-6. PMID 12596055.
- Donaudy F, Ferrara A, Esposito L, et al. (2003). "Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.". Am. J. Hum. Genet. 72 (6): 1571-7. PMID 12736868.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
