Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myh6provided by MGI
Official Full Name: myosin, heavy polypeptide 6, cardiac muscle, alphaprovided by MGI
Primary source: MGI:MGI:97255
See related: Ensembl:ENSMUSG00000040752 AllianceGenome:MGI:97255
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Myhca; Myhc-a; alphaMHC; alpha-MHC; A830009F23Rik
Summary: Enables microfilament motor activity. Involved in cardiac muscle contraction. Acts upstream of or within several processes, including adult heart development; muscle cell development; and regulation of heart contraction. Located in Z disc and stress fiber. Part of myosin complex. Is expressed in several structures, including brown fat; embryo mesenchyme; great vessel of heart; heart; and skeletal musculature. Used to study dilated cardiomyopathy; dilated cardiomyopathy 1EE; and hypertrophic cardiomyopathy 14. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Orthologous to human MYH6 (myosin heavy chain 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 1317.1) See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 28.01 cM

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (55179378..55205553, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (54941921..54968017, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation into Cardiac Myhc-alpha 334-352-Specific TCR Transgenic Mice Reveals a Role for Cytotoxic CD4 T Cells in the Development of Cardiac Autoimmunity.
Title: Investigation into Cardiac Myhc-α 334-352-Specific TCR Transgenic Mice Reveals a Role for Cytotoxic CD4 T Cells in the Development of Cardiac Autoimmunity.
alpha-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.
Title: α-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.
Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites.
Title: Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites.
A New Mouse Model of Chronic Myocarditis Induced by Recombinant Bacille Calmette-Guerin Expressing a T-Cell Epitope of Cardiac Myosin Heavy Chain-alpha.
Title: A New Mouse Model of Chronic Myocarditis Induced by Recombinant Bacille Calmette-Guèrin Expressing a T-Cell Epitope of Cardiac Myosin Heavy Chain-α.
Dystrophin and calcium current are decreased in cardiomyocytes expressing Cre enzyme driven by alphaMHC but not TNT promoter.
Title: Dystrophin and calcium current are decreased in cardiomyocytes expressing Cre enzyme driven by αMHC but not TNT promoter.
The TgPLN(R9C) mouse strain is, in the best case, a functionally ambiguous phenocopy of the human PLN(R9C) heterozygote, because a similar constellation of genetically programmed events can not occur in a patient
Title: Insertional Mutagenesis Confounds the Mechanism of the Morbid Phenotype of a PLN(R9C) Transgenic Mouse Line.
The stress-induced Brg1-G9a/GLP-Dnmt3 interactions and sequence of repressive chromatin assembly on Myh6 promoter illustrates a molecular mechanism by which the heart epigenetically responds to environmental signals.
Title: Epigenetic response to environmental stress: Assembly of BRG1-G9a/GLP-DNMT3 repressive chromatin complex on Myh6 promoter in pathologically stressed hearts.
Taken together, these results highlight both the importance of using alphaMyHC-Cre mice as controls in conditional knockout studies as well as the need for a less cardiotoxic Cre driver for the field.
Title: Prolonged Cre expression driven by the α-myosin heavy chain promoter can be cardiotoxic.
Data indicate that the cardiac myosin heavy chain alpha isoform (alphaMHC(403)) transgenic model closely recapitulates human disease.
Title: Age-related changes in familial hypertrophic cardiomyopathy phenotype in transgenic mice and humans.
mutant sarcomeres manifest irreversible cardiomyocyte defects that induce LVH.
Title: Irreversible triggers for hypertrophic cardiomyopathy are established in the early postnatal period.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (10) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548405

Myh6 (e-PCR), detects polymorphism
- UniSTS:463416

RH125576 (e-PCR)
- UniSTS:162390

Myhca (e-PCR), detects polymorphism
- UniSTS:143960

Myhca (e-PCR), detects polymorphism
- UniSTS:143961

MYH6 (e-PCR)
- UniSTS:511900

Myh7 (e-PCR), detects polymorphism
- UniSTS:530876

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent ATPase activity	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables cytoskeletal motor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin filament-based movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult heart development	ISO Inferred from Sequence Orthology more info
involved_in atrial cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle hypertrophy in response to stress	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in muscle filament sliding	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle filament sliding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of ATP-dependent activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart growth	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of the force of heart contraction	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visceral muscle development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of muscle myosin complex	ISO Inferred from Sequence Orthology more info
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in myofibril	ISO Inferred from Sequence Orthology more info
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myosin-6

Names: alpha cardiac MHC; alpha myosin; cardiomyopathy, hypertrophic 1; myHC-alpha; myosin heavy chain 6; myosin heavy chain, cardiac muscle, adult

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.

mRNA and Protein(s)

NM_001164171.1 → NP_001157643.1 myosin-6

See identical proteins and their annotated locations for NP_001157643.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.

Source sequence(s)

CT025533

Consensus CDS

CCDS36927.1

UniProtKB/Swiss-Prot

Q02566, Q64258, Q64738

UniProtKB/TrEMBL

B2RQQ1, Q2TAW4

Related

ENSMUSP00000080538.7, ENSMUST00000081857.14

Conserved Domains (3) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 72

Myosin_N; Myosin N-terminal SH3-like domain
NM_010856.4 → NP_034986.1 myosin-6

See identical proteins and their annotated locations for NP_034986.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.

Source sequence(s)

CT025533

Consensus CDS

CCDS36927.1

UniProtKB/Swiss-Prot

Q02566, Q64258, Q64738

UniProtKB/TrEMBL

B2RQQ1, Q2TAW4

Related

ENSMUSP00000154634.2, ENSMUST00000226297.2

Conserved Domains (3) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 72

Myosin_N; Myosin N-terminal SH3-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

55179378..55205553 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518678.4 → XP_006518741.1 myosin-6 isoform X1

See identical proteins and their annotated locations for XP_006518741.1

UniProtKB/TrEMBL

Q2TAW4

Conserved Domains (3) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 72

Myosin_N; Myosin N-terminal SH3-like domain
XM_006518677.1 → XP_006518740.1 myosin-6 isoform X1

See identical proteins and their annotated locations for XP_006518740.1

UniProtKB/TrEMBL

Q2TAW4

Conserved Domains (3) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 72

Myosin_N; Myosin N-terminal SH3-like domain
XM_036158503.1 → XP_036014396.1 myosin-6 isoform X2

UniProtKB/Swiss-Prot

Q02566, Q64258, Q64738

UniProtKB/TrEMBL

B2RQQ1, Q2TAW4

Conserved Domains (3) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 72

Myosin_N; Myosin N-terminal SH3-like domain