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    MYO6 myosin VI [ Homo sapiens (human) ]

    Gene ID: 4646, updated on 6-Jun-2017
    Official Symbol
    MYO6provided by HGNC
    Official Full Name
    myosin VIprovided by HGNC
    Primary source
    HGNC:HGNC:7605
    See related
    Ensembl:ENSG00000196586 MIM:600970; Vega:OTTHUMG00000015061
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNA22; DFNB37; Myo6-007; Myo6-008
    Summary
    This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
    Orthologs
    Location:
    6q14.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (75749176..75919537)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (76458893..76629254)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SUMO1/sentrin specific peptidase 6 Neighboring gene RNA, U6 small nuclear 1016, pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 163 Neighboring gene RNA, U6 small nuclear 155, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 209 Neighboring gene interphotoreceptor matrix proteoglycan 1 Neighboring gene RNA, U6 small nuclear 248, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    NHGRI GWA Catalog
    Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
    NHGRI GWA Catalog
    • Gap junction degradation, organism-specific biosystem (from REACTOME)
      Gap junction degradation, organism-specific biosystemThe half-life of Cx is very short (1 to 5h) compared to other junctional proteins (Laird et al., 1995 ; Fallon and Goudenough, 1981). Connexins are targeted for degradation by the proteasome and the...
    • Gap junction trafficking, organism-specific biosystem (from REACTOME)
      Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
    • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
      Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
    • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
      Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
      Stabilization and expansion of the E-cadherin adherens junction
    • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calmodulin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    minus-end directed microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament-based movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament-based movement NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    DNA-directed RNA polymerase II, holoenzyme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with endocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with filamentous actin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    unconventional myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    unconventional myosin-VI
    Names
    myosin VI transcript variant 007
    myosin VI transcript variant 008
    unconventional myosin-6

    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.

    Genomic

    1. NG_009934.1 RefSeqGene

      Range
      5001..175346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001300899.1NP_001287828.1  unconventional myosin-VI isoform 2

      See identical proteins and their annotated locations for NP_001287828.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the 3' coding region, compared to variant 1. It encodes isoform 2 which has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL136093, AL392166, DB088907, U90236
      Consensus CDS
      CCDS75481.1
      UniProtKB/Swiss-Prot
      Q9UM54
      Related
      ENSP00000359002.3, OTTHUMP00000016759, ENST00000369985.8, OTTHUMT00000041278
      Conserved Domains (4) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11451235
      Myosin-VI_CBD; Myosin VI cargo binding domain
      cl21478
      Location:9831048
      ATP-synt_B; ATP synthase B/B' CF(0)
    2. NM_004999.3NP_004990.3  unconventional myosin-VI isoform 1

      See identical proteins and their annotated locations for NP_004990.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB002387, AL136093, AL392166, DB088907
      Consensus CDS
      CCDS34487.1
      UniProtKB/Swiss-Prot
      Q9UM54
      Related
      ENSP00000358994.3, OTTHUMP00000016760, ENST00000369977.7, OTTHUMT00000041279
      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11681258
      Myosin-VI_CBD; Myosin VI cargo binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      75749176..75919537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248719.3XP_005248776.1  unconventional myosin-VI isoform X1

      UniProtKB/TrEMBL
      A0A0D9SGC1
      Related
      ENSP00000487348.1, OTTHUMP00000278515, ENST00000627432.2, OTTHUMT00000481735
      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11771267
      Myosin-VI_CBD; Myosin VI cargo binding domain
    2. XM_005248720.3XP_005248777.1  unconventional myosin-VI isoform X2

      See identical proteins and their annotated locations for XP_005248777.1

      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11681258
      Myosin-VI_CBD; Myosin VI cargo binding domain
    3. XM_005248721.3XP_005248778.1  unconventional myosin-VI isoform X3

      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11641254
      Myosin-VI_CBD; Myosin VI cargo binding domain
    4. XM_005248722.3XP_005248779.1  unconventional myosin-VI isoform X4

      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11591249
      Myosin-VI_CBD; Myosin VI cargo binding domain
    5. XM_005248724.3XP_005248781.1  unconventional myosin-VI isoform X5

      Conserved Domains (3) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11551245
      Myosin-VI_CBD; Myosin VI cargo binding domain
    6. XM_017010899.1XP_016866388.1  unconventional myosin-VI isoform X6

    7. XM_005248726.3XP_005248783.1  unconventional myosin-VI isoform X7

      UniProtKB/TrEMBL
      A0A0A0MRM8
      Related
      ENSP00000358992.1, OTTHUMP00000016761, ENST00000369975.5, OTTHUMT00000041280
      Conserved Domains (4) summary
      smart00242
      Location:52771
      MYSc; Myosin. Large ATPases
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11361226
      Myosin-VI_CBD; Myosin VI cargo binding domain
      cl21478
      Location:9831048
      ATP-synt_B; ATP synthase B/B' CF(0)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      76625130..76795504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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