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Myo5a myosin VA [ Mus musculus (house mouse) ]

Gene ID: 17918, updated on 12-May-2024

Summary

Official Symbol
Myo5aprovided by MGI
Official Full Name
myosin VAprovided by MGI
Primary source
MGI:MGI:105976
See related
Ensembl:ENSMUSG00000034593 AllianceGenome:MGI:105976
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
d; Dbv; MVa; flr; Myo5; MyoVA; Sev-1; flail; d-120J; 9630007J19Rik
Summary
Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to insulin stimulus; establishment of endoplasmic reticulum localization to postsynapse; and regulation of postsynaptic cytosolic calcium ion concentration. Acts upstream of or within several processes, including melanosome transport; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; and secretion by cell. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and photoreceptor outer segment. Part of unconventional myosin complex. Is active in glutamatergic synapse and postsynapse. Is expressed in nervous system and retina. Used to study Griscelli syndrome type 1. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cortex adult (RPKM 22.9), frontal lobe adult (RPKM 21.0) and 18 other tissues See more
Orthologs
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Genomic context

See Myo5a in Genome Data Viewer
Location:
9 D; 9 42.26 cM
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (74975183..75130970)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (75069799..75223688)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10563 Neighboring gene predicted gene, 51714 Neighboring gene cAMP-regulated phosphoprotein 19 Neighboring gene apoptosis inhibitor 5 pseudogene Neighboring gene branched chain ketoacid dehydrogenase E1, beta polypeptide pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E11749 Neighboring gene predicted gene, 33750 Neighboring gene myosin VC Neighboring gene predicted gene, 53503

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically and radiation induced (1) 
  • Chemically induced (ENU) (36)  1 citation
  • Chemically induced (other) (2)  1 citation
  • Radiation induced (11) 
  • Spontaneous (55)  1 citation
  • Targeted (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP-dependent protein binding ISO
Inferred from Sequence Orthology
more info
 
enables SNARE binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium-dependent protein binding ISO
Inferred from Sequence Orthology
more info
 
enables calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cytoskeletal motor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cytoskeletal motor activity ISO
Inferred from Sequence Orthology
more info
 
enables disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 TAS
Traceable Author Statement
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables syntaxin-1 binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within actin filament-based movement IDA
Inferred from Direct Assay
more info
PubMed 
involved_in actin filament-based movement ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within anagen IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axo-dendritic protein transport ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dopamine metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within endoplasmic reticulum localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of endoplasmic reticulum localization to postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
involved_in establishment of endoplasmic reticulum localization to postsynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hair follicle maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotion involved in locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within long-chain fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in macroautophagy ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within melanin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within melanosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within melanosome transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within melanosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of dopamine secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of synaptic transmission, glutamatergic ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
 
acts_upstream_of_or_within odontogenesis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pigmentation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in positive regulation of cellular response to insulin stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vascular associated smooth muscle cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in post-Golgi vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in reactive gliosis ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of exocytosis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynaptic cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynaptic cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within secretory granule localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in secretory granule localization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within synapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle transport along actin filament IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in vesicle transport along actin filament ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within vesicle transport along actin filament TAS
Traceable Author Statement
more info
PubMed 
involved_in vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Schaffer collateral - CA1 synapse ISO
Inferred from Sequence Orthology
more info
 
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with actin filament ISO
Inferred from Sequence Orthology
more info
 
located_in actomyosin IDA
Inferred from Direct Assay
more info
PubMed 
part_of actomyosin, myosin complex part ISO
Inferred from Sequence Orthology
more info
 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with early endosome ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in filopodium tip ISO
Inferred from Sequence Orthology
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in insulin-responsive compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with late endosome ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
part_of myosin complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with peroxisome ISO
Inferred from Sequence Orthology
more info
 
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in postsynapse ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynaptic actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with recycling endosome ISO
Inferred from Sequence Orthology
more info
 
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
 
part_of ribonucleoprotein complex ISO
Inferred from Sequence Orthology
more info
 
located_in ruffle ISO
Inferred from Sequence Orthology
more info
 
located_in secretory granule IDA
Inferred from Direct Assay
more info
PubMed 
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
 
is_active_in smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in smooth endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 
part_of unconventional myosin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
unconventional myosin-Va
Names
dilute lethal-20J protein
dilute myosin heavy chain, non-muscle
flailer
myosin-Va

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_010864.2NP_034994.2  unconventional myosin-Va

    See identical proteins and their annotated locations for NP_034994.2

    Status: VALIDATED

    Source sequence(s)
    AC133947, AK002362, AK134367, AK149701, CN459715, X57377
    Consensus CDS
    CCDS52860.1
    UniProtKB/Swiss-Prot
    E9PUE5, Q99104
    Related
    ENSMUSP00000116028.2, ENSMUST00000123128.8
    Conserved Domains (7) summary
    smart00015
    Location:813835
    IQ; Calmodulin-binding motif
    cd15478
    Location:14791853
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
    pfam00063
    Location:72751
    Myosin_head; Myosin head (motor domain)
    pfam00261
    Location:9281177
    Tropomyosin; Tropomyosin
    pfam15898
    Location:9421041
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl23720
    Location:9991098
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    74975183..75130970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510827.5XP_006510890.1  unconventional myosin-Va isoform X1

    Conserved Domains (3) summary
    COG5022
    Location:71448
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:15061880
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  2. XM_006510829.5XP_006510892.1  unconventional myosin-Va isoform X3

    UniProtKB/TrEMBL
    D3Z4J3
    Related
    ENSMUSP00000117493.3, ENSMUST00000155282.9
    Conserved Domains (4) summary
    COG5022
    Location:71295
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:14811855
    Myo5a_CBD; Cargo binding domain of myosin 5a
    TIGR02168
    Location:11561445
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  3. XM_006510832.5XP_006510895.1  unconventional myosin-Va isoform X6

    UniProtKB/TrEMBL
    D3YZ62
    Related
    ENSMUSP00000120444.2, ENSMUST00000136731.8
    Conserved Domains (4) summary
    COG1196
    Location:12501422
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5022
    Location:71295
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:14541828
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  4. XM_006510828.5XP_006510891.1  unconventional myosin-Va isoform X2

    Conserved Domains (4) summary
    COG1196
    Location:11551481
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5022
    Location:71291
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:15031877
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  5. XM_006510830.5XP_006510893.1  unconventional myosin-Va isoform X4

    Conserved Domains (4) summary
    COG1196
    Location:11571441
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5022
    Location:71291
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:14781852
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  6. XM_006510831.5XP_006510894.1  unconventional myosin-Va isoform X5

    Conserved Domains (4) summary
    COG1196
    Location:11571454
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5022
    Location:71291
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:14761850
    Myo5a_CBD; Cargo binding domain of myosin 5a
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  7. XM_030244103.2XP_030099963.1  unconventional myosin-Va isoform X7

    Conserved Domains (4) summary
    COG5022
    Location:71291
    COG5022; Myosin heavy chain [General function prediction only]
    cd15478
    Location:14511825
    Myo5a_CBD; Cargo binding domain of myosin 5a
    TIGR04211
    Location:12431350
    SH3_and_anchor; SH3 domain protein
    cd01380
    Location:83751
    MYSc_Myo5; class V myosin, motor domain
  8. XM_036154671.1XP_036010564.1  unconventional myosin-Va isoform X9

    Conserved Domains (5) summary
    smart00015
    Location:2547
    IQ; Calmodulin-binding motif
    COG0419
    Location:201683
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1196
    Location:114437
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd21759
    Location:4179
    CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins
    cl03379
    Location:7151089
    Myo5-like_CBD; Cargo binding domain of myosin 5 and similar proteins
  9. XM_036154670.1XP_036010563.1  unconventional myosin-Va isoform X8

    Conserved Domains (5) summary
    smart00015
    Location:2547
    IQ; Calmodulin-binding motif
    COG0419
    Location:201686
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG1196
    Location:114437
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd21759
    Location:4179
    CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins
    cl03379
    Location:7181092
    Myo5-like_CBD; Cargo binding domain of myosin 5 and similar proteins