MYO15A

MYO15A
Identifiers
Aliases	MYO15A , DFNB3, MYO15, myosin XVA
External IDs	OMIM: 602666 MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A
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; ; sural nerve; ; Brodmann area 9; ; prefrontal cortex; ; right lobe of liver; ; stromal cell of endometrium; ; ganglionic eminence; ; right uterine tube; ; hypothalamus;
	Top expressed in
	utricle; ; pituitary gland; ; trachea; ; facial motor nucleus; ; cerebellar cortex; ; submandibular gland; ; cochlea; ; yolk sac; ; bone marrow; ; blastocyst;
	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	sensory perception of sound ; 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 March 22, 2023

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]

Related Research Articles

Myosin VIIA is protein that in humans is encoded by the MYO7A gene. Myosin VIIA 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.

Usherin is a protein that in humans is encoded by the USH2A gene.

Unconventional myosin-VI, is a protein that in humans is coded for by MYO6. Unconventional myosin-VI is a myosin molecular motor involved in intracellular vesicle and organelle transport.

Harmonin is a protein that in humans is encoded by the USH1C gene. It is expressed in sensory cells of the inner ear and retina, where it plays a role in hearing, balance, and vision. Mutations at the USH1C locus cause Usher syndrome type 1c and nonsyndromic sensorineural deafness.

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.

Wolframin is a protein that in humans is encoded by the WFS1 gene.

MYO9B is a gene that encodes the Myosin-IXb protein.

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.

Whirlin is a protein that in humans is encoded by the DFNB31 gene.

TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.

Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.

Myosin-14 is a protein that in humans is encoded by the MYH14 gene.

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

Unconventional myosin-Ia is a protein that in humans is encoded by the MYO1A gene.

Developmentally-regulated GTP-binding protein 2 is a protein that in humans is encoded by the DRG2 gene.

Myosin-IIIa is a protein that in humans is encoded by the MYO3A gene.

Myosin-If is a protein that in humans is encoded by the MYO1F gene.

Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.

Stereocilin is a protein that in humans is encoded by the STRC gene.

Pejvakin is a protein that in humans is encoded by the PJVK gene.

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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