MYO6 myosin VI [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 6q14.1

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (75749239..75919537)
RS_2023_03	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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA UCA1 promotes development of gastric cancer via the miR-145/MYO6 axis.
Title: LncRNA UCA1 promotes development of gastric cancer via the miR-145/MYO6 axis.
Dynamic multimerization of Dab2-Myosin VI complexes regulates cargo processivity while minimizing cortical actin reorganization.
Title: Dynamic multimerization of Dab2-Myosin VI complexes regulates cargo processivity while minimizing cortical actin reorganization.
A dynamic Dab2 keeps myosin VI stably on track.
Title: A dynamic Dab2 keeps myosin VI stably on track.
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.
Title: Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.
Competition between two high- and low-affinity protein-binding sites in myosin VI controls its cellular function.
Title: Competition between two high- and low-affinity protein-binding sites in myosin VI controls its cellular function.
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
Title: A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
We identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family.
Title: Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
There is coordinated action of myosin VI and CLCa at the apical surface where these proteins are essential for fission of clathrin-coated pits. Myosin VI and Huntingtin-interacting protein 1-related protein (Hip1R) are mutually exclusive interactors with CLCa, and suggest a model for the sequential function of myosin VI and Hip1R in actin-mediated clathrin-coated vesicle budding.
Title: Clathrin light chain A drives selective myosin VI recruitment to clathrin-coated pits under membrane tension.
two mutations, one in MYO6 (c.554-1 G > A) gene and another in PJVK (c.547C > T) are responsible for 1% each of the Iranian ARNSHL patients
Title: Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
New missense variants of MYO6 in the Korean autosomal dominant deaf patients.MYO6 variants showed a wide array of auditory phenotypes, including the age of onset and audiogram configurationsin the Korean autosomal dominant deaf patients.
Title: A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.

Submit: New GeneRIF Correction See all GeneRIFs (78)

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

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 22 MedGen: C2931767 OMIM: 606346 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Autosomal recessive nonsyndromic hearing loss 37 MedGen: C1843028 OMIM: 607821 GeneReviews: Genetic Hearing Loss Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

G35301 (e-PCR)
- UniSTS:77879

D6S1986 (e-PCR)
- UniSTS:29766

D6S1172E (e-PCR)
- UniSTS:10579

STS-AA030004 (e-PCR)
- UniSTS:80997

STS-N39073 (e-PCR)
- UniSTS:74865

RH48988 (e-PCR)
- UniSTS:86906

G62106 (e-PCR)
- UniSTS:139142

MYO6__6198 (e-PCR)
- UniSTS:464071

RH76105 (e-PCR)
- UniSTS:92145

STS-AA025570 (e-PCR)
- UniSTS:66808

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 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
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 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	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 endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	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 more info	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
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

General protein information

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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

NG_009934.2 RefSeqGene

Range

5047..175345

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_438

mRNA and Protein(s)

NM_001300899.2 → 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

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54

Related

ENSP00000359002.3, ENST00000369985.9

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)
NM_001368136.1 → NP_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
NM_001368137.1 → NP_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
NM_001368138.1 → NP_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
NM_001368139.1 → NP_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
NM_001368140.1 → NP_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
NM_001368865.1 → NP_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:800 → 1039

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01382
Location:71 → 759

MYSc_Myo6; class VI myosin, motor domain

pfam16521
Location:1177 → 1267

Myosin-VI_CBD; Myosin VI cargo binding domain
NM_001368866.1 → NP_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:842 → 1039

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01382
Location:71 → 759

MYSc_Myo6; class VI myosin, motor domain

pfam16521
Location:1168 → 1258

Myosin-VI_CBD; Myosin VI cargo binding domain
NM_004999.4 → 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) 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: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

RNA

NR_160538.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109897, AL136093, AL392166
NR_160539.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109897, AL136093

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

75749239..75919537

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54

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
XM_005248722.5 → XP_005248779.1 unconventional myosin-VI isoform X3

UniProtKB/Swiss-Prot

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54

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
XM_005248724.5 → XP_005248781.1 unconventional myosin-VI isoform X4

UniProtKB/Swiss-Prot

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54

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
XM_017010899.3 → XP_016866388.1 unconventional myosin-VI isoform X5

UniProtKB/Swiss-Prot

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54
XM_024446447.2 → XP_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:800 → 1039

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01382
Location:71 → 759

MYSc_Myo6; class VI myosin, motor domain

pfam16521
Location:1177 → 1267

Myosin-VI_CBD; Myosin VI cargo binding domain
XM_047418836.1 → XP_047274792.1 unconventional myosin-VI isoform X6

UniProtKB/Swiss-Prot

A6H8V4, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2, Q9UM54

UniProtKB/TrEMBL

A0A0A0MRM8