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    MYH3 myosin heavy chain 3 [ Homo sapiens (human) ]

    Gene ID: 4621, updated on 6-Aug-2017
    Official Symbol
    MYH3provided by HGNC
    Official Full Name
    myosin heavy chain 3provided by HGNC
    Primary source
    HGNC:HGNC:7573
    See related
    Ensembl:ENSG00000109063 MIM:160720; Vega:OTTHUMG00000130367
    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
    DA8; DA2A; DA2B; HEMHC; SMHCE; MYHSE1; MYHC-EMB
    Summary
    Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17p13.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (10628526..10679657, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10531843..10560626, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 1 Neighboring gene myosin heavy chain 2 Neighboring gene SCO1, cytochrome c oxidase assembly protein Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Distal arthrogryposis type 2B
    MedGen: C1834523 OMIM: 601680 GeneReviews: Not available
    Compare labs
    Distal arthrogryposis type 8
    MedGen: C1867440 OMIM: 178110 GeneReviews: Not available
    Compare labs
    Freeman-Sheldon syndrome
    MedGen: C0265224 OMIM: 193700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    NHGRI GWA Catalog
    • 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...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • 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...
    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, coupled IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calmodulin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    myosin phosphatase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament-based movement NAS
    Non-traceable Author Statement
    more info
    PubMed 
    embryonic limb morphogenesis IC
    Inferred by Curator
    more info
    PubMed 
    face morphogenesis IC
    Inferred by Curator
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    protein dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    sarcomere organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle myosin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    myosin filament IEA
    Inferred from Electronic Annotation
    more info
     
    sarcomere NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    myosin-3
    Names
    myosin heavy chain, fast skeletal muscle, embryonic
    myosin, heavy chain 3, skeletal muscle, embryonic
    myosin, heavy polypeptide 3, skeletal muscle, embryonic
    myosin, skeletal, heavy chain, embryonic 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_011537.1 RefSeqGene

      Range
      4990..33773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002470.3NP_002461.2  myosin-3

      See identical proteins and their annotated locations for NP_002461.2

      Status: REVIEWED

      Source sequence(s)
      AC002347, AY517555, BP232093, BP232269, BP233220, BP370003, BQ956249, BX500019, BY796597, CD614924, X13988
      Consensus CDS
      CCDS11157.1
      UniProtKB/Swiss-Prot
      P11055
      UniProtKB/TrEMBL
      Q5GJ67
      Related
      ENSP00000464317.1, OTTHUMP00000160902, ENST00000583535.5, OTTHUMT00000252734
      Conserved Domains (9) summary
      cd14913
      Location:100767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8471924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3673
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17391850
      TMPIT; TMPIT-like protein
      cl00459
      Location:12961408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:9561063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:13731506
      COG6; Conserved oligomeric complex COG6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      10628526..10679657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523870.2XP_011522172.1  myosin-3 isoform X1

      See identical proteins and their annotated locations for XP_011522172.1

      UniProtKB/Swiss-Prot
      P11055
      Conserved Domains (9) summary
      cd14913
      Location:100767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8471924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3673
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17391850
      TMPIT; TMPIT-like protein
      cl00459
      Location:12961408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:9561063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:13731506
      COG6; Conserved oligomeric complex COG6
    2. XM_011523871.2XP_011522173.1  myosin-3 isoform X1

      See identical proteins and their annotated locations for XP_011522173.1

      UniProtKB/Swiss-Prot
      P11055
      Conserved Domains (9) summary
      cd14913
      Location:100767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8471924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3673
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17391850
      TMPIT; TMPIT-like protein
      cl00459
      Location:12961408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:9561063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:13731506
      COG6; Conserved oligomeric complex COG6

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      10542067..10570823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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