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    MYO6 myosin VI [ Homo sapiens (human) ]

    Gene ID: 4646, updated on 7-Apr-2024

    Summary

    Official Symbol
    MYO6provided by HGNC
    Official Full Name
    myosin VIprovided by HGNC
    Primary source
    HGNC:HGNC:7605
    See related
    Ensembl:ENSG00000196586 MIM:600970; AllianceGenome:HGNC:7605
    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
    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]
    Expression
    Broad expression in kidney (RPKM 22.2), duodenum (RPKM 13.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYO6 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75749239..75919537)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (76926117..77096418)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (76458956..76629254)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SUMO specific peptidase 6 Neighboring gene RN7SK pseudogene 163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76397423-76397924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76397925-76398424 Neighboring gene oocyte-secreted protein 4B-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76466141-76466640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76479357-76479857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24762 Neighboring gene RNA, U6 small nuclear 155, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76522688-76523578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76523579-76524469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76529698-76530198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76530199-76530699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17343 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94611 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 5S ribosomal pseudogene 209 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:76644683-76645294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76646103-76646604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:76646605-76647104 Neighboring gene interphotoreceptor matrix proteoglycan 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:76696520-76697063 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:76702869-76703559 Neighboring gene RNA, U6 small nuclear 248, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    EBI GWAS Catalog
    Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calmodulin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables cytoskeletal motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables minus-end directed microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament-based movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin filament-based movement NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear auditory receptor cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner ear morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in actin filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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 
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with endocytic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in ruffle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of unconventional myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    unconventional myosin-VI
    Names
    unconventional myosin-6

    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.

    Genomic

    1. NG_009934.2 RefSeqGene

      Range
      5047..175345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_438

    mRNA and Protein(s)

    1. NM_001300899.2NP_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
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      Related
      ENSP00000359002.3, ENST00000369985.9
      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_001368136.1NP_001355065.1  unconventional myosin-VI isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093, AL392166
      Consensus CDS
      CCDS93950.1
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      UniProtKB/TrEMBL
      A0A0A0MRM8
      Related
      ENSP00000358992.1, ENST00000369975.6
    3. NM_001368137.1NP_001355066.1  unconventional myosin-VI isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093, AL392166
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      UniProtKB/TrEMBL
      A0A1Y0BRN0
    4. NM_001368138.1NP_001355067.1  unconventional myosin-VI isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093, AL392166
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
    5. NM_001368139.1NP_001355068.1  unconventional myosin-VI isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform 6.
      Source sequence(s)
      AL109897, AL136093
    6. NM_001368140.1NP_001355069.1  unconventional myosin-VI isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform 6.
      Source sequence(s)
      AL109897, AL136093
    7. NM_001368865.1NP_001355794.1  unconventional myosin-VI isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093, AL392166
      Consensus CDS
      CCDS93948.1
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      UniProtKB/TrEMBL
      A0A590UJ40
      Related
      ENSP00000499278.1, ENST00000664640.1
      Conserved Domains (3) summary
      TIGR02168
      Location:8001039
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11771267
      Myosin-VI_CBD; Myosin VI cargo binding domain
    8. NM_001368866.1NP_001355795.1  unconventional myosin-VI isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: Isoforms 1 and 8 are the same length but differ in sequence.
      Source sequence(s)
      AL109897, AL136093, AL392166, KY781827
      Consensus CDS
      CCDS93949.1
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      UniProtKB/TrEMBL
      A0A1Y0BRN3
      Related
      ENSP00000500710.1, ENST00000672093.1
      Conserved Domains (3) summary
      TIGR02168
      Location:8421039
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11681258
      Myosin-VI_CBD; Myosin VI cargo binding domain
    9. NM_004999.4NP_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) encodes isoform (1). Isoforms 1 and 8 are the same length but differ in sequence.
      Source sequence(s)
      AB002387, AL136093, AL392166, DB088907
      Consensus CDS
      CCDS34487.1
      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      Related
      ENSP00000358994.3, ENST00000369977.8
      Conserved Domains (3) summary
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11681258
      Myosin-VI_CBD; Myosin VI cargo binding domain
      cl25732
      Location:8421038
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_160538.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093, AL392166
    2. NR_160539.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109897, AL136093

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      75749239..75919537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248721.5XP_005248778.1  unconventional myosin-VI isoform X2

      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      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
    2. XM_005248722.5XP_005248779.1  unconventional myosin-VI isoform X3

      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      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
    3. XM_005248724.5XP_005248781.1  unconventional myosin-VI isoform X4

      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      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
    4. XM_017010899.3XP_016866388.1  unconventional myosin-VI isoform X5

      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
    5. XM_024446447.2XP_024302215.1  unconventional myosin-VI isoform X1

      UniProtKB/Swiss-Prot
      A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
      UniProtKB/TrEMBL
      A0A590UJ40
      Conserved Domains (3) summary
      TIGR02168
      Location:8001039
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd01382
      Location:71759
      MYSc_Myo6; class VI myosin, motor domain
      pfam16521
      Location:11771267
      Myosin-VI_CBD; Myosin VI cargo binding domain
    6. XM_047418836.1XP_047274792.1  unconventional myosin-VI isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRM8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      76926117..77096418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355526.1XP_054211501.1  unconventional myosin-VI isoform X2

    2. XM_054355527.1XP_054211502.1  unconventional myosin-VI isoform X3

    3. XM_054355528.1XP_054211503.1  unconventional myosin-VI isoform X4

    4. XM_054355529.1XP_054211504.1  unconventional myosin-VI isoform X5

    5. XM_054355525.1XP_054211500.1  unconventional myosin-VI isoform X1

      UniProtKB/TrEMBL
      A0A590UJ40
    6. XM_054355530.1XP_054211505.1  unconventional myosin-VI isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRM8