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MYO6 myosin VI [ Homo sapiens (human) ]

Gene ID: 4646, updated on 6-Sep-2021

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
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
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Genomic context

See MYO6 in Genome Data Viewer
Location:
6q14.1
Exon count:
40
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (75749203..75919537)
105.20201022 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 RNA, U6 small nuclear 1016, pseudogene Neighboring gene RN7SK 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
GeneReviews: Not available
Autosomal dominant nonsyndromic deafness 22 Compare labs
Deafness, autosomal recessive 37 Compare labs
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
GeneReviews: Not available

Pathways from PubChem

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
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
involved_in inner ear morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
involved_in vesicle transport along actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
part_of RNA polymerase II, holoenzyme IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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
PubMed 
colocalizes_with endocytic vesicle ISS
Inferred from Sequence or Structural Similarity
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 
is_active_in microvillus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in ruffle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
unconventional myosin-VI
Names
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_009934.2 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
    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
    Related
    ENSP00000358992.1, ENST00000369975.6
  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 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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    75749203..75919537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
  2. 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
  3. 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
  4. XM_017010899.2XP_016866388.1  unconventional myosin-VI isoform X7

  5. XM_024446447.1XP_024302215.1  unconventional myosin-VI isoform X1

    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
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