Myo3a myosin IIIA [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myo3aprovided by MGI
Official Full Name: myosin IIIAprovided by MGI
Primary source: MGI:MGI:2183924
See related: Ensembl:ENSMUSG00000025716 AllianceGenome:MGI:2183924
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 9030416P08Rik
Summary: Enables actin filament binding activity; microfilament motor activity; and protein serine/threonine kinase activity. Involved in inner ear morphogenesis; regulation of actin filament length; and sensory perception of sound. Acts upstream of or within inner ear development; positive regulation of filopodium assembly; and protein phosphorylation. Located in filopodium tip and photoreceptor inner segment. Is active in stereocilium tip. Is expressed in cochlea and metanephros. Used to study autosomal recessive nonsyndromic deafness 30. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness and autosomal recessive nonsyndromic deafness 30. Orthologous to human MYO3A (myosin IIIA). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 15.15 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (22232360..22508693)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (22227503..22618252)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results showed that Myo3a is essential for normal hearing by maintaining the intact structure of hair cell stereocilia, and the kinase domain plays a critical role in the normal functions of Myo3a.
Title: Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear.
results uncover the critical role that class III myosins play redundantly in hair-bundle morphogenesis
Title: Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
The phenotype of the Myo3a knockout mice parallels the phenotype of human DFNB30.
Title: A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

fk25g03.x1 (e-PCR)
- UniSTS:200706

RH136459 (e-PCR)
- UniSTS:210445

RH136461 (e-PCR)
- UniSTS:210447

RH136213 (e-PCR)
- UniSTS:210208

RH136219 (e-PCR)
- UniSTS:210213

RH136229 (e-PCR)
- UniSTS:210223

NoName (e-PCR)
- UniSTS:234086

NoName (e-PCR)
- UniSTS:234087

NoName (e-PCR)
- UniSTS:234088

RH136305 (e-PCR)
- UniSTS:210297

RH136597 (e-PCR)
- UniSTS:210577

Myo3a (e-PCR), detects polymorphism
- UniSTS:532115

RH136337 (e-PCR)
- UniSTS:210327

RH136347 (e-PCR)
- UniSTS:210337

RH136391 (e-PCR)
- UniSTS:210381

RH136419 (e-PCR)
- UniSTS:210409

RH136445 (e-PCR)
- UniSTS:210431

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables microfilament motor activity	ISS Inferred from Sequence or Structural Similarity more info
enables plus-end directed microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables plus-end directed microfilament motor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in auditory receptor cell stereocilium organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of filopodium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin filament length	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament length	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of actin filament length	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
part_of filamentous actin	ISO Inferred from Sequence Orthology more info
part_of filamentous actin	ISS Inferred from Sequence or Structural Similarity more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in filopodium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium tip	ISO Inferred from Sequence Orthology more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium tip	EXP Inferred from Experiment more info	PubMed
is_active_in stereocilium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myosin-IIIa

NP_680779.4

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.