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MYO6 myosin VI [ Homo sapiens (human) ]

Gene ID: 4646, updated on 16-Jan-2019

Summary

Official Symbol
MYO6provided by HGNC
Official Full Name
myosin VIprovided by HGNC
Primary source
HGNC:HGNC:7605
See related
Ensembl:ENSG00000196586 MIM:600970
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

Genomic context

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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
actin filament ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
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

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

NCBI Reference Sequences (RefSeq)

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
    5000..175345
    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, ENST00000369985.8
    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
  3. NM_001368137.1NP_001355066.1  unconventional myosin-VI isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL109897, AL136093, AL392166
  4. NM_001368138.1NP_001355067.1  unconventional myosin-VI isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL109897, AL136093, AL392166
  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 isform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 6.
    Source sequence(s)
    AL109897, AL136093
  7. 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) 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, ENST00000369977.7
    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: Homo sapiens Annotation Release 109

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_005248719.4XP_005248776.1  unconventional myosin-VI isoform X1

    UniProtKB/TrEMBL
    A0A0D9SGC1
    Related
    ENSP00000358998.4, ENST00000369981.7
    Conserved Domains (3) summary
    cd01382
    Location:71759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:11771267
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:8001039
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_005248720.4XP_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:71759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:11681258
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:8421039
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_005248721.4XP_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_024446448.1XP_024302216.1  unconventional myosin-VI isoform X5

    Conserved Domains (3) summary
    cd01382
    Location:71759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:11551245
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:8001039
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_005248722.4XP_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
  6. XM_005248724.4XP_005248781.1  unconventional myosin-VI isoform X6

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

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

    UniProtKB/TrEMBL
    A0A0A0MRM8
    Related
    ENSP00000358992.1, ENST00000369975.5
    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)
  9. XM_024446447.1XP_024302215.1  unconventional myosin-VI isoform X1

    Related
    ENSP00000487348.1, ENST00000627432.2
    Conserved Domains (3) summary
    cd01382
    Location:71759
    MYSc_Myo6; class VI myosin, motor domain
    pfam16521
    Location:11771267
    Myosin-VI_CBD; Myosin VI cargo binding domain
    cl25732
    Location:8001039
    SMC_N; RecF/RecN/SMC N terminal domain
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