MYO15A

MYO15A
Identifiers
AliasesMYO15A, DFNB3, MYO15, myosin XVA
External IDsMGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17p11.2Start18,108,706 bp[1]
End18,179,806 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 11: 60.47 – 60.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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, non syndromic deafness .[7] This gene is located within the Smith-Magenis syndrome region on chromosome 17.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000091536 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042678 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. doi:10.1126/science.280.5368.1447. PMID 9603736.
  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. doi:10.1371/journal.pone.0099797. PMC 4057390. PMID 24926664.

Further reading

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.


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