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

    Gene ID: 4625, updated on 30-Jun-2015
    Official Symbol
    MYH7provided by HGNC
    Official Full Name
    myosin, heavy chain 7, cardiac muscle, betaprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    See MYH7 in Epigenomics, MapViewer
    Location:
    14q12
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (23412738..23435686, 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 microRNA 208a Neighboring gene myosin, heavy chain 6, cardiac muscle, alpha Neighboring gene microRNA 208b Neighboring gene myosin heavy chain-associated RNA transcript 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

    Associated conditions

    Description Tests
    Congenital myopathy with fiber type disproportion Compare labs
    Dilated cardiomyopathy 1S
    MedGen: C1834481 OMIM: 613426 GeneReviews: Not available
    Compare labs
    Familial hypertrophic cardiomyopathy 1 Compare labs
    Myopathy, distal, 1
    MedGen: CN074249 OMIM: 160500 GeneReviews: Laing Distal Myopathy
    Compare labs
    Myopathy, hyaline body, autosomal recessive
    MedGen: C1850709 OMIM: 255160 GeneReviews: Not available
    not available
    Myopathy, myosin storage
    MedGen: C1842160 OMIM: 608358 GeneReviews: Not available
    Compare labs
    Scapuloperoneal myopathy, MYH7-related
    MedGen: CN074265 OMIM: 181430 GeneReviews: Not available
    Compare labs

    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 Interaction Database

    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    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 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle contraction 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 slow-twitch skeletal muscle fiber contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of the force of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of the force of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to reactive oxygen species IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transition between fast and slow fiber IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    nucleoplasm 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
    myHC-beta
    myhc-slow
    myopathy, distal 1
    myosin heavy chain slow isoform
    myosin heavy chain, cardiac muscle beta isoform
    myosin, heavy polypeptide 7, cardiac muscle, beta
    rhabdomyosarcoma antigen MU-RMS-40.7A

    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 RefSeqGene

      Range
      4976..27924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_384

    mRNA and Protein(s)

    1. NM_000257.3NP_000248.2  myosin-7

      See identical proteins and their annotated locations for NP_000248.2

      Status: REVIEWED

      Source sequence(s)
      BC112173, BF834726, EU747717, M58018
      Consensus CDS
      CCDS9601.1
      UniProtKB/Swiss-Prot
      P12883
      Related
      ENSP00000347507, OTTHUMP00000027949, ENST00000355349, OTTHUMT00000071798
      Conserved Domains (8) summary
      pfam01576
      Location:10681926
      Myosin_tail_1; Myosin tail
      pfam00261
      Location:8471043
      Tropomyosin; Tropomyosin
      smart00242
      Location:80778
      MYSc; Myosin. Large ATPases
      pfam02736
      Location:3475
      Myosin_N; Myosin N-terminal SH3-like domain
      cl02488
      Location:8791041
      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; ...
      cl12013
      Location:12321424
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl00817
      Location:11321293
      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 ...
      cd14917
      Location:99766
      MYSc_Myh7; class II myosin heavy chain 7, motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    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
      23412738..23435686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_245686.3 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      23880619..23903563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)