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    MYH6 myosin heavy chain 6 [ Homo sapiens (human) ]

    Gene ID: 4624, updated on 17-Jun-2024

    Summary

    Official Symbol
    MYH6provided by HGNC
    Official Full Name
    myosin heavy chain 6provided by HGNC
    Primary source
    HGNC:HGNC:7576
    See related
    Ensembl:ENSG00000197616 MIM:160710; AllianceGenome:HGNC:7576
    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 approximately 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, Feb 2017]
    Expression
    Restricted expression toward heart (RPKM 1273.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYH6 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23381987..23408273, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17583003..17609277, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23851196..23877482, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene interleukin 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8171 Neighboring gene CKLF like MARVEL transmembrane domain containing 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23858153-23858756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23858757-23859360 Neighboring gene microRNA 208a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23871133-23871675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23871676-23872217 Neighboring gene VISTA enhancer hs2155 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 Neighboring gene myosin heavy chain 7 Neighboring gene microRNA 208b Neighboring gene myosin heavy chain associated RNA transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI 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.
    EBI GWAS Catalog
    Genome-wide association analysis identifies multiple loci related to resting heart rate.
    EBI GWAS Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog
    Several common variants modulate heart rate, PR interval and QRS duration.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables microfilament motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables myosin phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrial cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle filament sliding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle filament sliding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    involved_in myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of ATP-dependent activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of blood pressure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of heart rate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of the force of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of the force of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in striated muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in striated muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visceral muscle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myosin-6
    Names
    myHC-alpha
    myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002471.4NP_002462.2  myosin-6

      See identical proteins and their annotated locations for NP_002462.2

      Status: REVIEWED

      Source sequence(s)
      AL049829, BC132667, D00943, DA566231, M21664
      Consensus CDS
      CCDS9600.1
      UniProtKB/Swiss-Prot
      A2RTX1, D9YZU2, P13533, Q13943, Q14906, Q14907
      UniProtKB/TrEMBL
      A5YM51
      Related
      ENSP00000386041.3, ENST00000405093.9
      Conserved Domains (8) summary
      cd01377
      Location:99768
      MYSc_class_II; class II myosins, motor domain
      pfam00063
      Location:87768
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8481925
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3572
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17401832
      TMPIT; TMPIT-like protein
      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 ...
      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; ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23381987..23408273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17583003..17609277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)