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Myosin-IIIa

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(Redirected from MYO3A) Protein-coding gene in the species Homo sapiens
MYO3A
Identifiers
AliasesMYO3A, myosin IIIA, DFNB30
External IDsOMIM: 606808; MGI: 2183924; HomoloGene: 49486; GeneCards: MYO3A; OMA:MYO3A - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)
Chromosome 10 (human)Genomic location for MYO3AGenomic location for MYO3A
Band10p12.1Start25,934,229 bp
End26,212,532 bp
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)
Chromosome 2 (mouse)Genomic location for MYO3AGenomic location for MYO3A
Band2|2 A3Start22,232,314 bp
End22,508,264 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • islet of Langerhans

  • testicle

  • gonad

  • sperm

  • ventricular zone

  • right testis

  • left testis

  • ganglionic eminence

  • epithelium of colon

  • popliteal artery
Top expressed in
  • morula

  • embryo

  • embryo

  • zygote

  • secondary oocyte

  • tail of embryo

  • blastocyst

  • spermatid

  • duodenum

  • superior frontal gyrus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

53904

667663

Ensembl

ENSG00000095777

ENSMUSG00000025716

UniProt

Q8NEV4

Q8K3H5

RefSeq (mRNA)

NM_017433
NM_001368265

NM_148413

RefSeq (protein)

NP_059129
NP_001355194

n/a

Location (UCSC)Chr 10: 25.93 – 26.21 MbChr 2: 22.23 – 22.51 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000095777Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025716Ensembl, 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. Dose AC, Burnside B (Sep 2000). "Cloning and chromosomal localization of a human class III myosin". Genomics. 67 (3): 333–42. doi:10.1006/geno.2000.6256. PMID 10936054.
  6. ^ "Entrez Gene: MYO3A myosin IIIA".

Further reading

Proteins of the cytoskeleton
Human
Microfilaments
and ABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects


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