Myo5a
Gene Detail

Symbol Name ID

Myo5a myosin VA MGI:105976

Synonyms

9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA, nmf244

Feature Type

protein coding gene

Genetic Map

Chromosome 9

42.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(155)

Sequence Map

Chr9:75071015-75223688 bp, + strand From VEGA annotation of GRCm38   152674 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20100  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Myo5a

Human homologs

Human Homolog		MYO5A, myosin VA (heavy chain 12, myoxin)
NCBI Gene ID		4644
neXtProt AC		NX_Q9Y4I1
Human Synonyms		GS1, MYH12, MYO5, MYR12
Human Chr (Location)		15q21; chr15:52599480-52821247 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MYO5A

Alleles and phenotypes

All alleles(95) : Targeted(3) Gene trapped(3) Spontaneous(53) Chemically induced(25) Radiation induced(12)
 

Mutations in this gene cause abnormal melanocyte structure, resulting in clumping of melanin pigment in hair of nonagouti mice, producing a gray coat color. Some alleles also produce a lethal or neurological phenotype. Normal melanocyte structure and coat phenotype is restored in revertant alleles.

 
Human Diseases Modeled Using Mouse Myo5a (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (86 annotations)

Process	actin filament-based movement, anagen, ...
Component	actomyosin, actomyosin, myosin complex part, ...
Function	actin binding, ATP binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (104)    Tissues (39)    Images (30)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	104

cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(44) Genomic(19) cDNA(23) Other(2)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000016492 (Evidence)
Ensembl Gene Model	ENSMUSG00000034593 (Evidence)
Entrez Gene	17918 (Evidence)
DFCI	TC1578470, TC1601670, TC1603039
NIA Mouse Gene Index	U010743
PDB	2IX7, 3WB8, 4KP3
Consensus CDS Project	CCDS52860.1
International Mouse Knockout Project Status	Myo5a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016492	VEGA Gene Model | MGI Sequence Detail	152674	C57BL/6J
transcript	OTTMUST00000042678	VEGA | MGI Sequence Detail	6372	Not Applicable
polypeptide	OTTMUSP00000019176	VEGA | MGI Sequence Detail	1855	Not Applicable

All sequences(71) RefSeq(2) UniProt(7)

Polymorphisms

RFLP(17) : SNPs within 2kb(455 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR018444	Dil domain
InterPro	IPR002710	Dilute
InterPro	IPR000048	IQ motif, EF-hand binding site
InterPro	IPR001609	Myosin head, motor domain
InterPro	IPR008989	Myosin S1 fragment, N-terminal
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Protein Ontology	PR:000010865	myosin-Va

References

(Earliest) J:28864 Gates WH, Linkage of Short Ear and Density in the House Mouse. Proc Natl Acad Sci U S A. 1927 Aug;13(8):575-8
(Latest) J:198429 Yoshii A, et al., A Myosin Va mutant mouse with disruptions in glutamate synaptic development and mature plasticity in visual cortex. J Neurosci. 2013 May 8;33(19):8472-82
All references(270)

Other accession IDs

MGD-MRK-14365, MGD-MRK-2338, MGD-MRK-28030, MGD-MRK-33656, MGD-MRK-8805, MGI:1096356, MGI:1343057, MGI:2143030, MGI:2143108