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    Myo5a myosin VA [ Mus musculus (house mouse) ]

    Gene ID: 17918, updated on 9-Dec-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; postsynapse; and smooth endoplasmic reticulum. Is expressed in several structures, including central nervous system; peripheral nervous system ganglion; retina; secondary oocyte; and stomach. 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, Dec 2024]
    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

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP binding  
    enables ATP-dependent protein binding  
    enables SNARE binding  
    enables actin binding PubMed 
    enables actin filament binding  
    enables calcium ion binding PubMed 
    enables calcium-dependent protein binding  
    enables calmodulin binding PubMed 
    enables cytoskeletal motor activity PubMed 
    enables cytoskeletal motor activity  
    enables disordered domain specific binding PubMed 
    enables identical protein binding PubMed 
    enables microfilament motor activity  
    enables microfilament motor activity PubMed 
    enables microfilament motor activity  
    enables microfilament motor activity  
    enables protein binding PubMed 
    enables protein kinase binding  
    enables protein-containing complex binding  
    enables small GTPase binding PubMed 
    enables small GTPase binding  
    enables syntaxin-1 binding  
    Items 1 - 25 of 50
    Process Evidence Code Pubs
    involved_in actin filament organization  
    acts_upstream_of_or_within actin filament-based movement PubMed 
    involved_in actin filament-based movement  
    acts_upstream_of_or_within anagen PubMed 
    involved_in axo-dendritic protein transport  
    involved_in cellular response to insulin stimulus PubMed 
    acts_upstream_of_or_within chemical synaptic transmission PubMed 
    acts_upstream_of_or_within developmental pigmentation PubMed 
    involved_in dopamine metabolic process  
    involved_in endocytosis  
    acts_upstream_of_or_within endoplasmic reticulum localization PubMed 
    involved_in establishment of endoplasmic reticulum localization to postsynapse PubMed 
    involved_in establishment of endoplasmic reticulum localization to postsynapse PubMed 
    acts_upstream_of_or_within exocytosis PubMed 
    acts_upstream_of_or_within hair follicle maturation PubMed 
    acts_upstream_of_or_within insulin secretion PubMed 
    acts_upstream_of_or_within locomotion involved in locomotory behavior PubMed 
    acts_upstream_of_or_within long-chain fatty acid biosynthetic process PubMed 
    involved_in macroautophagy  
    acts_upstream_of_or_within melanin biosynthetic process PubMed 
    acts_upstream_of_or_within melanin metabolic process PubMed 
    acts_upstream_of_or_within melanocyte differentiation PubMed 
    acts_upstream_of_or_within melanosome localization PubMed 
    acts_upstream_of_or_within melanosome transport PubMed 
    acts_upstream_of_or_within melanosome transport PubMed 
    acts_upstream_of_or_within myelination PubMed 
    involved_in negative regulation of dopamine secretion  
    involved_in negative regulation of synaptic transmission, glutamatergic  
    acts_upstream_of_or_within neuromuscular process controlling balance  
    acts_upstream_of_or_within odontogenesis PubMed 
    acts_upstream_of_or_within pigmentation PubMed 
    acts_upstream_of_or_within pigmentation PubMed 
    involved_in positive regulation of cellular response to insulin stimulus  
    involved_in positive regulation of protein localization to plasma membrane  
    involved_in positive regulation of vascular associated smooth muscle cell migration  
    involved_in post-Golgi vesicle-mediated transport  
    involved_in protein localization to plasma membrane PubMed 
    involved_in protein-containing complex assembly  
    involved_in reactive gliosis  
    involved_in regulation of exocytosis  
    acts_upstream_of_or_within regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity PubMed 
    involved_in regulation of postsynaptic cytosolic calcium ion concentration PubMed 
    involved_in regulation of postsynaptic cytosolic calcium ion concentration PubMed 
    acts_upstream_of_or_within secretory granule localization PubMed 
    involved_in secretory granule localization  
    acts_upstream_of_or_within synapse organization PubMed 
    involved_in vesicle transport along actin filament  
    acts_upstream_of_or_within vesicle transport along actin filament PubMed 
    involved_in vesicle-mediated transport PubMed 
    acts_upstream_of_or_within visual perception PubMed 
    Items 1 - 25 of 50
    Items 1 - 20 of 47
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    is_active_in Schaffer collateral - CA1 synapse  
    is_active_in actin cytoskeleton  
    colocalizes_with actin filament  
    located_in actomyosin PubMed 
    part_of actomyosin, myosin complex part  
    located_in axon  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in dendrite  
    colocalizes_with early endosome  
    colocalizes_with endoplasmic reticulum  
    located_in filopodium tip  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse  
    located_in insulin-responsive compartment PubMed 
    located_in intermediate filament PubMed 
    colocalizes_with late endosome  
    colocalizes_with lysosome  
    located_in melanosome PubMed 
    located_in melanosome  
    is_active_in membrane  
    located_in membrane  
    part_of myosin complex PubMed 
    located_in neuronal cell body PubMed 
    located_in neuronal cell body  
    colocalizes_with peroxisome  
    located_in photoreceptor outer segment PubMed 
    is_active_in postsynapse PubMed 
    is_active_in postsynapse PubMed 
    is_active_in postsynapse  
    is_active_in postsynaptic actin cytoskeleton  
    colocalizes_with recycling endosome  
    located_in recycling endosome  
    part_of ribonucleoprotein complex  
    located_in ruffle  
    located_in secretory granule PubMed 
    located_in secretory granule  
    is_active_in smooth endoplasmic reticulum PubMed 
    is_active_in smooth endoplasmic reticulum PubMed 
    located_in synaptic vesicle  
    part_of unconventional myosin complex PubMed 
    colocalizes_with vesicle  
    Items 1 - 20 of 47

    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)

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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.

    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
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