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MYH7 myosin, heavy chain 7, cardiac muscle, beta [ Homo sapiens (human) ]

Gene ID: 4625, updated on 5-Aug-2014
Official Symbol
MYH7provided by HGNC
Official Full Name
myosin, heavy chain 7, cardiac muscle, betaprovided by HGNC
Primary source
HGNC:7577
See related
Ensembl:ENSG00000092054; HPRD:01175; MIM:160760; Vega:OTTHUMG00000028755
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
CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB
Summary
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
See MYH7 in Epigenomics, MapViewer
Location:
14q12
Exon count:
41
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (23412738..23435661, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23881947..23904870, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene CKLF-like MARVEL transmembrane domain containing 5 Neighboring gene myosin, heavy chain 6, cardiac muscle, alpha Neighboring gene microRNA 208a Neighboring gene microRNA 208b Neighboring gene neuroguidin, EIF4E binding protein Neighboring gene thiamine triphosphatase Neighboring gene zinc finger homeobox 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYH7 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies multiple loci related to resting heart rate.
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 Protein 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 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...
  • 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...
  • 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...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138376, MGC138378, DKFZp451F047

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 NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adult heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle filament sliding IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
striated muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin filament IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myosin-7
Names
myosin-7
myHC-beta
myhc-slow
myopathy, distal 1
myosin heavy chain slow isoform
rhabdomyosarcoma antigen MU-RMS-40.7A
myosin heavy chain, cardiac muscle beta isoform
myosin, heavy polypeptide 7, cardiac muscle, beta

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_007884.1 

    Range
    5001..27924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_384

mRNA and Protein(s)

  1. NM_000257.3NP_000248.2  myosin-7

    See proteins identical to NP_000248.2

    Status: REVIEWED

    Source sequence(s)
    BC112173, BF834726, EU747717, M58018
    Consensus CDS
    CCDS9601.1
    UniProtKB/Swiss-Prot
    P12883
    Conserved Domains (7) summary
    pfam01576
    Location:10681926
    Blast Score: 2584
    Myosin_tail_1; Myosin tail
    PRK15374
    Location:9141115
    Blast Score: 103
    PRK15374; pathogenicity island 1 effector protein SipB; Provisional
    COG5022
    Location:371432
    Blast Score: 2212
    COG5022; Myosin heavy chain [Cytoskeleton]
    cd01377
    Location:81777
    Blast Score: 3619
    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 ...
    cl00817
    Location:11321293
    Blast Score: 99
    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 ...
    pfam02736
    Location:3475
    Blast Score: 164
    Myosin_N; Myosin N-terminal SH3-like domain
    cl12013
    Location:12321424
    Blast Score: 98
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    23412738..23435661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267696.1XP_005267753.1  

    UniProtKB/Swiss-Prot
    P12883
    Related
    ENSP00000347507, OTTHUMP00000027949, ENST00000355349, OTTHUMT00000071798
    Conserved Domains (7) summary
    pfam01576
    Location:10681926
    Blast Score: 2584
    Myosin_tail_1; Myosin tail
    PRK15374
    Location:9141115
    Blast Score: 103
    PRK15374; pathogenicity island 1 effector protein SipB; Provisional
    COG5022
    Location:371432
    Blast Score: 2212
    COG5022; Myosin heavy chain [Cytoskeleton]
    cd01377
    Location:81777
    Blast Score: 3619
    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 ...
    cl00817
    Location:11321293
    Blast Score: 99
    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 ...
    pfam02736
    Location:3475
    Blast Score: 164
    Myosin_N; Myosin N-terminal SH3-like domain
    cl12013
    Location:12321424
    Blast Score: 98
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_005267697.2XP_005267754.1  

    Conserved Domains (5) summary
    pfam00261
    Location:8471043
    Blast Score: 127
    Tropomyosin; Tropomyosin
    cd00176
    Location:8601041
    Blast Score: 125
    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; ...
    cd01377
    Location:81777
    Blast Score: 3640
    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 ...
    PTZ00014
    Location:62819
    Blast Score: 1107
    PTZ00014; myosin-A; Provisional
    pfam02736
    Location:3475
    Blast Score: 169
    Myosin_N; Myosin N-terminal SH3-like domain

RNA

  1. XR_245686.2 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    3998386..4019919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    23880619..23902164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)