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MYO6 myosin VI [ Homo sapiens (human) ]

Gene ID: 4646, updated on 12-Aug-2018

Summary

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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]
Expression
Broad expression in kidney (RPKM 22.2), duodenum (RPKM 13.0) and 23 other tissues See more
Orthologs
mouse all

Genomic context

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See MYO6 in Genome Data Viewer
Location:
6q14.1
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 SUMO 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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family. Sampaio-Silva J, et al. Ann Hum Genet, 2018 Jan. PMID 29044474
  2. MYO6 is targeted by Salmonella virulence effectors to trigger PI3-kinase signaling and pathogen invasion into host cells. Brooks AB, et al. Proc Natl Acad Sci U S A, 2017 Apr 11. PMID 28348208, Free PMC Article
  3. Filopodia formation and endosome clustering induced by mutant plus-end-directed myosin VI. Masters TA, et al. Proc Natl Acad Sci U S A, 2017 Feb 14. PMID 28143933, Free PMC Article
  4. Knockdown of Myosin 6 inhibits proliferation of oral squamous cell carcinoma cells. Zhang X, et al. J Oral Pathol Med, 2016 Nov. PMID 27561828
  5. Overexpression of myosin VI regulates gastric cancer cell progression. Wang Z, et al. Gene, 2016 Nov 15. PMID 27515005

See all (135) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. The tumorigenic effect of lncRNA SOX21-AS1 in CRC cells via targeting miR-145/MYO6, providing a novel insight for CRC carcinogenesis.
    Title: Long non-coding RNA SOX21-AS1 sponges miR-145 to promote the tumorigenesis of colorectal cancer by targeting MYO6.
  2. Rab33b, OATL1 and Myo6 have roles in nanoparticle trafficking in HeLa cells
    Title: A systematic High-Content Screening microscopy approach reveals key roles for Rab33b, OATL1 and Myo6 in nanoparticle trafficking in HeLa cells.
  3. miR-143 and miR-145 suppress gastric cancer cell migration and metastasis by inhibiting MYO6 expression and the epithelial-mesenchymal transition, which provides a novel mechanism and promising therapeutic target for the treatment of gastric cancer metastasis.
    Title: miR-143 and miR-145 inhibit gastric cancer cell migration and metastasis by suppressing MYO6.
  4. MYO6 facilitates Salmonella invasion.Salmonella virulence effector SopB requires MYO6 to regulate the localization of phosphoinositides and Akt activation.
    Title: MYO6 is targeted by <i>Salmonella</i> virulence effectors to trigger PI3-kinase signaling and pathogen invasion into host cells.
  5. Data indicate filopodia formation and MYO6 motor function at endosomes and at the plasma membrane.
    Title: Filopodia formation and endosome clustering induced by mutant plus-end-directed myosin VI.
  6. we describe a novel nonsense MYO6 mutation that was responsible for the hearing loss in a Brazilian family
    Title: Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
  7. this is the first ILDR1 and MYO6 mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 genes
    Title: Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
  8. MYO6 could play an essential role in the growth of OSCC cells via regulation of cell cycle progression and apoptosis.
    Title: Knockdown of Myosin 6 inhibits proliferation of oral squamous cell carcinoma cells.
  9. characterisation of the human myosin VI deafness mutant (R1166X) suggests that defects in cargo binding may leave myosin VI in a primed/activated state with an increased actin-binding ability
    Title: Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding.
  10. PRAS40 was downregulated in the DU145 cells following MYO6 knockdown.
    Title: MYO6 knockdown inhibits the growth and induces the apoptosis of prostate cancer cells by decreasing the phosphorylation of ERK1/2 and PRAS40.
Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

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  • 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...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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 by RNA polymerase II 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
Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
RNA polymerase II, holoenzyme 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 HDA 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 HDA 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 

General protein information

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Preferred Names
unconventional myosin-VI
Names
myosin VI transcript variant 007
myosin VI transcript variant 008
unconventional myosin-6

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.

Genomic

  1. NG_009934.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001300899.1 → NP_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:52 → 771
    MYSc; Myosin. Large ATPases
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1145 → 1235
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl21478
    Location:983 → 1048
    ATP-synt_B; ATP synthase B/B' CF(0)

  2. NM_004999.3 → NP_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
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1168 → 1258
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:842 → 1038
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005248719.4 → XP_005248776.1  unconventional myosin-VI isoform X1

    UniProtKB/TrEMBL
    A0A0D9SGC1
    Related
    ENSP00000358998.4, OTTHUMP00000278515, ENST00000369981.7
    Conserved Domains (3) summary
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1177 → 1267
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:800 → 1039
    SMC_N; RecF/RecN/SMC N terminal domain

  2. XM_005248720.4 → XP_005248777.1  unconventional myosin-VI isoform X2

    See identical proteins and their annotated locations for XP_005248777.1

    UniProtKB/TrEMBL
    A0A1Y0BRN3
    Conserved Domains (3) summary
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1168 → 1258
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:842 → 1039
    SMC_N; RecF/RecN/SMC N terminal domain

  3. XM_005248721.4 → XP_005248778.1  unconventional myosin-VI isoform X3

    Conserved Domains (3) summary
    smart00242
    Location:52 → 771
    MYSc; Myosin. Large ATPases
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1164 → 1254
    Myosin-VI_CBD; Myosin VI cargo binding domain

  4. XM_024446448.1 → XP_024302216.1  unconventional myosin-VI isoform X5

    Conserved Domains (3) summary
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1155 → 1245
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:800 → 1039
    SMC_N; RecF/RecN/SMC N terminal domain

  5. XM_005248722.4 → XP_005248779.1  unconventional myosin-VI isoform X4

    Conserved Domains (3) summary
    smart00242
    Location:52 → 771
    MYSc; Myosin. Large ATPases
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1159 → 1249
    Myosin-VI_CBD; Myosin VI cargo binding domain

  6. XM_005248724.4 → XP_005248781.1  unconventional myosin-VI isoform X6

    Conserved Domains (3) summary
    smart00242
    Location:52 → 771
    MYSc; Myosin. Large ATPases
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1155 → 1245
    Myosin-VI_CBD; Myosin VI cargo binding domain

  7. XM_017010899.2 → XP_016866388.1  unconventional myosin-VI isoform X7

  8. XM_005248726.4 → XP_005248783.1  unconventional myosin-VI isoform X8

    UniProtKB/TrEMBL
    A0A0A0MRM8
    Related
    ENSP00000358992.1, OTTHUMP00000016761, ENST00000369975.5
    Conserved Domains (4) summary
    smart00242
    Location:52 → 771
    MYSc; Myosin. Large ATPases
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1136 → 1226
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl21478
    Location:983 → 1048
    ATP-synt_B; ATP synthase B/B' CF(0)

  9. XM_024446447.1 → XP_024302215.1  unconventional myosin-VI isoform X1

    Related
    ENSP00000487348.1, ENST00000627432.2
    Conserved Domains (3) summary
    cd01382
    Location:71 → 759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:1177 → 1267
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:800 → 1039
    SMC_N; RecF/RecN/SMC N terminal domain
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UM54.4 GenPept UniProtKB/Swiss-Prot:Q9UM54

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