MYO15A

MYO15A
Identifiers
Aliases	MYO15A , DFNB3, MYO15, myosin XVA
External IDs	OMIM: 602666; MGI: 1261811; HomoloGene: 56504; GeneCards: MYO15A; OMA:MYO15A - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	18,179,802 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	60,419,195 bp
RNA expression pattern
	Top expressed in
	pituitary gland; ; anterior pituitary; ; left testis; ; right testis; ; right hemisphere of cerebellum; ; testicle; ; right frontal lobe; ; gonad; ; left ovary; ; sural nerve;
	Top expressed in
	epithelium of macula of saccule of membranous labyrinth; ; utricle; ; pituitary gland; ; lumbar subsegment of spinal cord; ; embryo; ; tibiofemoral joint; ; trachea; ; vestibular membrane of cochlear duct; ; facial motor nucleus; ; zygote;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding ; actin binding ; cytoskeletal motor activity ; ATP binding ; calmodulin binding ;
Cellular component	cytoplasm ; stereocilium bundle ; cell projection ; extracellular exosome ; cytoskeleton ; myosin complex ; stereocilium ;
Biological process	hearing ; inner ear morphogenesis ; locomotory behavior ;
	Sources:Amigo / QuickGO
Orthologs
	51168
	17910
	ENSG00000091536
	ENSMUSG00000042678
	Q9UKN7
	Q9QZZ4
	NM_016239
	NM_001103171 ; NM_010862 ; NM_182698
	NP_057323
	NP_001096641 ; NP_034992 ; NP_874357
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 05, 2024

Unconventional myosin-XV is a protein that in humans is encoded by the MYO15A gene.^[5]^[6]

Gene

Read-through transcript containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.^[6]

Function

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea.^[6]

Clinical significance

Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromic deafness.^[7] This gene is located within the Smith–Magenis syndrome region on chromosome 17.^[6]

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000091536 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042678 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3". Science. 280 (5368): 1447–51. Bibcode:1998Sci...280.1447W. doi:10.1126/science.280.5368.1447. PMID 9603736.
1 2 3 4 "Entrez Gene: MYO15A myosin XVA".
↑ Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness". PLOS ONE. 9 (6): e99797. Bibcode:2014PLoSO...999797R. doi: 10.1371/journal.pone.0099797 . PMC 4057390 . PMID 24926664.

Kalay E, Uzumcu A, Krieger E, et al. (2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". Am. J. Med. Genet. A. 143 (20): 2382–9. doi:10.1002/ajmg.a.31937. PMID 17853461. S2CID 26797020.
Nal N, Ahmed ZM, Erkal E, et al. (2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing". Hum. Mutat. 28 (10): 1014–9. doi:10.1002/humu.20556. PMID 17546645. S2CID 27597330.
La Rosa S, Capella C, Lloyd RV (2002). "Localization of myosin XVA in endocrine tumors of gut and pancreas". Endocr. Pathol. 13 (1): 29–37. doi:10.1385/EP:13:1:29. PMID 12114748. S2CID 20356974.
Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse". Genome Res. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594 . PMID 11997338.
Liburd N, Ghosh M, Riazuddin S, et al. (2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome". Hum. Genet. 109 (5): 535–41. doi:10.1007/s004390100604. PMID 11735029. S2CID 20812371.
Lloyd RV, Vidal S, Jin L, et al. (2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors". Am. J. Pathol. 159 (4): 1375–82. doi:10.1016/S0002-9440(10)62524-2. PMC 1850513 . PMID 11583965.
Anderson DW, Probst FJ, Belyantseva IA, et al. (2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells". Hum. Mol. Genet. 9 (12): 1729–38. doi: 10.1093/hmg/9.12.1729 . PMID 10915760.
Liang Y, Wang A, Belyantseva IA, et al. (2000). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2". Genomics. 61 (3): 243–58. doi:10.1006/geno.1999.5976. PMID 10552926.
Friedman TB, Liang Y, Weber JL, et al. (1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nat. Genet. 9 (1): 86–91. doi:10.1038/ng0195-86. PMID 7704031. S2CID 33397422.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000091536 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042678 – 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.

[pmid9603736-5] Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3". Science. 280 (5368): 1447–51. Bibcode:1998Sci...280.1447W. doi:10.1126/science.280.5368.1447. PMID 9603736.

[entrez-6] 1 2 3 4 "Entrez Gene: MYO15A myosin XVA".

[7] Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness". PLOS ONE. 9 (6): e99797. Bibcode:2014PLoSO...999797R. doi: 10.1371/journal.pone.0099797 . PMC 4057390 . PMID 24926664.

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