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MYH6 myosin, heavy chain 6, cardiac muscle, alpha [ Homo sapiens (human) ]

Gene ID: 4624, updated on 12-May-2016
Official Symbol
MYH6provided by HGNC
Official Full Name
myosin, heavy chain 6, cardiac muscle, alphaprovided by HGNC
Primary source
HGNC:HGNC:7576
See related
Ensembl:ENSG00000197616 HPRD:01171; MIM:160710; Vega:OTTHUMG00000028753
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
ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC
Summary
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]
Orthologs
Location:
14q12
Exon count:
39
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (23381990..23408277, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23849942..23878836, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene interleukin 25 Neighboring gene CKLF like MARVEL transmembrane domain containing 5 Neighboring gene microRNA 208a Neighboring gene myosin, heavy chain 7, cardiac muscle, beta Neighboring gene myosin heavy chain-associated RNA transcript Neighboring gene microRNA 208b

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.
NHGRI GWA Catalog
Genome-wide association analysis identifies multiple loci related to resting heart rate.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

Go to the HIV-1, Human Interaction Database

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • 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...
  • 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...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • 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...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
actin-dependent ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
microfilament motor activity IDA
Inferred from Direct Assay
more info
PubMed 
microfilament motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin phosphatase activity TAS
Traceable Author Statement
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adult heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
muscle filament sliding IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart growth IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate IDA
Inferred from Direct Assay
more info
PubMed 
regulation of the force of heart contraction IDA
Inferred from Direct Assay
more info
PubMed 
regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
 
striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
visceral muscle development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myofibril ISS
Inferred from Sequence or Structural Similarity
more info
 
myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin filament IEA
Inferred from Electronic Annotation
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myosin-6
Names
myHC-alpha
myosin heavy chain 6
myosin heavy chain, cardiac muscle alpha isoform
myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

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_023444.1 RefSeqGene

    Range
    5001..31288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_389

mRNA and Protein(s)

  1. NM_002471.3NP_002462.2  myosin-6

    See identical proteins and their annotated locations for NP_002462.2

    Status: REVIEWED

    Source sequence(s)
    BC132667, BX501231, D00943, DA566231, M21664
    Consensus CDS
    CCDS9600.1
    UniProtKB/Swiss-Prot
    P13533
    Related
    ENSP00000386041, ENST00000405093
    Conserved Domains (9) summary
    pfam01576
    Location:10701928
    Myosin_tail_1; Myosin tail
    pfam00261
    Location:8491045
    Tropomyosin; Tropomyosin
    smart00242
    Location:80780
    MYSc; Myosin. Large ATPases
    pfam02736
    Location:3475
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam12718
    Location:16811803
    Tropomyosin_1; Tropomyosin like
    cl02488
    Location:8811043
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl00459
    Location:12971409
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl00817
    Location:11341295
    MM_CoA_mutase; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM)-like family; contains proteins similar to MCM, and the large subunit of Streptomyces coenzyme B12-dependent isobutyryl-CoA mutase (ICM). MCM catalyzes the isomerization of ...
    cd01377
    Location:99768
    MYSc_class_II; class II myosins, motor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    23381990..23408277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    23849871..23876158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)