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) [1] Band 17p11.2 Start 18,108,756 bp [1] End 18,179,802 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B2|11 37.81 cM Start 60,360,165 bp [2] End 60,419,195 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 51168 17910 Ensembl ENSG00000091536 ENSMUSG00000042678 UniProt Q9UKN7 Q9QZZ4 RefSeq (mRNA) NM_016239 NM_001103171 NM_010862 NM_182698 RefSeq (protein) NP_057323 NP_001096641 NP_034992 NP_874357 Location (UCSC) Chr 17: 18.11 – 18.18 Mb Chr 11: 60.36 – 60.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000091536 – Ensembl, May 2017
2. 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.
5. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, et al. (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3". Science. 280 (5368). New York, N.Y.: 1447–1451. Bibcode:1998Sci...280.1447W. doi:10.1126/science.280.5368.1447. PMID   9603736.
6. "Entrez Gene: MYO15A myosin XVA".
7. Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, et al. (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.

Further reading

• Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, et al. (Oct 2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". American Journal of Medical Genetics. Part A. 143A (20): 2382–2389. doi:10.1002/ajmg.a.31937. PMID   17853461. S2CID   26797020.
• Nal N, Ahmed ZM, Erkal E, Alper OM, Luleci G, Dinc O, et al. (Oct 2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing". Human Mutation. 28 (10): 1014–1019. 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". Endocrine Pathology. 13 (1): 29–37. doi:10.1385/EP:13:1:29. PMID   12114748. S2CID   20356974.
• Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, et al. (May 2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse". Genome Research. 12 (5): 713–728. doi:10.1101/gr.73702. PMC   186594 . PMID   11997338.
• Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, et al. (Nov 2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome". Human Genetics. 109 (5): 535–541. doi:10.1007/s004390100604. PMID   11735029. S2CID   20812371.
• Lloyd RV, Vidal S, Jin L, Zhang S, Kovacs K, Horvath E, et al. (Oct 2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors". The American Journal of Pathology. 159 (4): 1375–1382. doi:10.1016/S0002-9440(10)62524-2. PMC   1850513 . PMID   11583965.
• Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, et al. (Jul 2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells". Human Molecular Genetics. 9 (12): 1729–1738. doi: 10.1093/hmg/9.12.1729 . PMID   10915760.
• Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, et al. (Nov 1999). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2". Genomics. 61 (3): 243–258. doi:10.1006/geno.1999.5976. PMID   10552926.
• Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, et al. (Jan 1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nature Genetics. 9 (1): 86–91. doi:10.1038/ng0195-86. PMID   7704031. S2CID   33397422.