MYO15A

MYO15A

Identifiers

MYO15A, DFNB3, MYO15, myosin XVA

External IDs

OMIM: 602666 MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A

Gene location (Human)

Chr.	Chromosome 17 (human)^[1]

Band	17p11.2	Start	18,108,756 bp^[1]
Band	17p11.2	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]
Band	11 B2\|11 37.81 cM	End	60,419,195 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

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	sensory perception of sound 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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000091536 - Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b ^c ^d "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.

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3

Catenins

Membrane

Dystrophin
- Dystroglycan
Utrophin
Ankyrin
- ANK1
- ANK2
- ANK3
Spectrin
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTBN5

Other

Plakins
- Corneodesmosin
- Desmoplakin
- Dystonin
- Envoplakin
- MACF1
- Periplakin
- Plectin
Talin
- TLN1
Vinculin
Plakophilin
- PKP1
- PKP2
ACF7
PLEKHA7

Nonhuman

See also: cytoskeletal defects

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 1 December 2023, at 01:57

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Gene

Function

Clinical significance

References

Further reading