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

Summary

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Official Symbol: Myh6provided by MGI
Official Full Name: myosin, heavy polypeptide 6, cardiac muscle, alphaprovided by MGI
Primary source: MGI:97255
Locus tag: RP23-171A13.2
See related: Ensembl:ENSMUSG00000040752
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Myhca; Myhc-a; AA517445; alpha-MHC; A830009F23Rik

Genomic context

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Location :: 14 C3; 14 28.01 cM

Sequence :: Chromosome: 14; NC_000080.6 (54941921..54966607, complement)

See Myh6 in Epigenomics, MapViewer

Chromosome 14 - NC_000080.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Results show that the binding force between selenium and cardiac myosin (CM), which consists of two heavy chains (MHC) and two pairs of light chains: MLC1 and MLC2, was 100 times stronger than that of daunorubicin (DNR) and CM.
Title: Effect of selenium on the interaction between daunorubicin and cardiac myosin.
hypertrophied myocytes after TAC have alpha-MyHC only. These data challenge the current paradigm of the fetal hypertrophic gene program and identify a new subpopulation of smaller working ventricular myocytes with more myosin.
Title: β-myosin heavy chain is induced by pressure overload in a minor subpopulation of smaller mouse cardiac myocytes.
the alpha-isoform of myosin heavy chain is the pathogenic autoantigen for CD4+ T cells in myocarditis
Title: Impaired thymic tolerance to α-myosin directs autoimmunity to the heart in mice and humans.
Silencing of aMHC is associated at its promoter with decreased H3K4me3, but not decreased H3ac.
Title: Reversible epigenetic modifications of the two cardiac myosin heavy chain genes during changes in expression.
TCDD represses the expression of the cardiac development-specific Nkx2.5 homeobox transcription factor, of cardiac troponin-T and of alpha- and beta-myosin heavy chains.
Title: Dioxin exposure disrupts the differentiation of mouse embryonic stem cells into cardiomyocytes.
These results suggest that the depressed molecular function in cardiac myosin may initiate the events that cause the heart to remodel and become pathologically dilated.
Title: Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.
functional consequences of the mutation are fundamentally changed depending upon the context of the cardiac MHC isoform
Title: Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone.
Development of hypertrophic cardiomyopathy due to alpha-myosin heavy chain mutations may be accelerated by male hormones or the absence of female hormones.
Title: Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.
residues situated within or close to the actin-binding interface of the myosin head influence actin binding and thereby modulate actin-activated ATPase activity
Title: Distribution and structure-function relationship of myosin heavy chain isoforms in the adult mouse heart.
the alphaMHC gene, in addition to encoding a major cardiac contractile protein, regulates cardiac growth and gene expression in response to stress and hormonal signaling through miR-208
Title: Control of stress-dependent cardiac growth and gene expression by a microRNA.

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Alleles

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

Targeted (knock-out) (1) 1 citation
Targeted (knock-in) (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:201651	BioGRID:212401	Fbxo32		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Cardiac muscle contraction, organism-specific biosystem (from KEGG)
Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
Cardiac muscle contraction, conserved biosystem (from KEGG)
Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Dilated cardiomyopathy, conserved biosystem (from KEGG)
Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Muscle contraction, organism-specific biosystem (from REACTOME)
Muscle contraction, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
Striated Muscle Contraction, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
Striated Muscle Contraction, organism-specific biosystem
Striated Muscle Contraction
Tight junction, organism-specific biosystem (from KEGG)
Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
Tight junction, conserved biosystem (from KEGG)
Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
Viral myocarditis, organism-specific biosystem (from KEGG)
Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

General gene information

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Markers

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

Homology

Homologs of the Myh6 gene: The Myh6 gene is conserved in human, Rhesus monkey, dog, cow, rat, and zebrafish.
Map Viewer (Human, Rat)

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
ATP binding	ISO Inferred from Sequence Orthology more info
ATPase activity	ISO Inferred from Sequence Orthology more info
actin binding	IEA Inferred from Electronic Annotation more info
actin-dependent ATPase activity	ISO Inferred from Sequence Orthology more info
calcium-dependent ATPase activity	ISO Inferred from Sequence Orthology more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
microfilament motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
microfilament motor activity	ISO Inferred from Sequence Orthology more info
motor activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
protein homodimerization activity	ISO Inferred from Sequence Orthology more info
protein kinase binding	ISO Inferred from Sequence Orthology more info
structural constituent of muscle	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
ATP catabolic process	ISO Inferred from Sequence Orthology more info
BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
actin filament-based movement	IMP Inferred from Mutant Phenotype more info	PubMed
adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
adult heart development	ISO Inferred from Sequence Orthology more info
atrial cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
canonical Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
cardiac muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
muscle contraction	ISO Inferred from Sequence Orthology more info
muscle filament sliding	ISO Inferred from Sequence Orthology more info
myofibril assembly	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of ATPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of heart growth	IDA Inferred from Direct Assay more info	PubMed
regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of heart rate	ISO Inferred from Sequence Orthology more info
regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
visceral muscle development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
Z disc	IDA Inferred from Direct Assay more info
cytoplasm	ISO Inferred from Sequence Orthology more info
focal adhesion	ISO Inferred from Sequence Orthology more info
muscle myosin complex	ISO Inferred from Sequence Orthology more info
myofibril	IDA Inferred from Direct Assay more info	PubMed
myofibril	ISO Inferred from Sequence Orthology more info
myosin complex	IDA Inferred from Direct Assay more info	PubMed
myosin filament	IEA Inferred from Electronic Annotation more info
nucleolus	ISO Inferred from Sequence Orthology more info
nucleus	ISO Inferred from Sequence Orthology more info
stress fiber	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: myosin-6

Names: myosin-6; myHC-alpha; alpha myosin; alpha cardiac MHC; myosin heavy chain 6; cardiomyopathy, hypertrophic 1; cardiac myosin heavy chain alpha isoform; myosin heavy chain, cardiac muscle, adult; Myosin heavy chain, cardiac muscle alpha isoform (MyHC-alpha)

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

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/TrEMBL

B2RQQ1

UniProtKB/Swiss-Prot

Q02566

Related

ENSMUSP00000080538, ENSMUST00000081857

Conserved Domains (4) summary

cd01377
Location:81 – 779
Blast Score: 3162

MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...

pfam02736
Location:34 – 75
Blast Score: 163

Myosin_N; Myosin N-terminal SH3-like domain

smart00242
Location:80 – 780
Blast Score: 2597

MYSc; Myosin. Large ATPases.

pfam12718
Location:1681 – 1803
Blast Score: 92

Tropomyosin_1; Tropomyosin like
NM_010856.4 → NP_034986.1 myosin-6

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/TrEMBL

B2RQQ1

UniProtKB/Swiss-Prot

Q02566

Conserved Domains (4) summary

cd01377
Location:81 – 779
Blast Score: 3162

MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...

pfam02736
Location:34 – 75
Blast Score: 163

Myosin_N; Myosin N-terminal SH3-like domain

smart00242
Location:80 – 780
Blast Score: 2597

MYSc; Myosin. Large ATPases.

pfam12718
Location:1681 – 1803
Blast Score: 92

Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000080.6 Reference GRCm38.p1 C57BL/6J

Range

54941921..54966607, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000036.1 Alternate Mm_Celera

Range

52747958..52772529, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01114046.1 (12512..37083)	None
genomic	AC157212.2	None
genomic	CH466535.2	EDL36313.1	mixed
genomic	CT025533.11 (52069..76756)	None
genomic	M62404.1	AAA37424.1
mRNA	AK142232.1	BAE24986.1	C57BL/6J
mRNA	BC061145.1	AAH61145.1
mRNA	BC090979.1	AAH90979.1
mRNA	BC110700.1	AAI10701.1
mRNA	BC138027.1	AAI38028.1
mRNA	DQ023232.1	AAY86373.1	C57BL/6
mRNA	DQ023233.1	AAY86374.1	C57BL/6
mRNA	DQ023234.1	AAY86375.1	C57BL/6
mRNA	DQ023235.1	AAY86376.1	C57BL/6
mRNA	DQ023236.1	AAY86377.1	C57BL/6
mRNA	DQ023237.1	AAY86378.1	C57BL/6
mRNA	M12290.1	AAA39789.1
mRNA	M12291.1	AAA39790.1
mRNA	M38127.1	AAP03722.1
mRNA	M74751.1	None	AKR
mRNA	M76598.1	AAA37159.1	DBA/2J
mRNA	M76599.1	AAA37160.1	BALB/cByJ
mRNA	M76600.1	AAA37161.1	C57BL/6J
mRNA	M76601.1	AAA37162.1	A/J