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

    Gene ID: 4621, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:7573
    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; DA2B3; HEMHC; SMHCE; MYHSE1; CPSFS1A; CPSFS1B; CPSKF1A; CPSKF1B; 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]
    Expression
    Biased expression in prostate (RPKM 18.9), esophagus (RPKM 4.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYH3 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10628532..10678417, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10536104..10585897, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10531849..10560626, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10395090-10396289 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10399610-10400809 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10407979-10409178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10427829-10429028 Neighboring gene myosin heavy chain 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455 Neighboring gene myosin heavy chain 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10475093-10475685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10520795-10521295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521298-10521798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10521799-10522299 Neighboring gene uncharacterized LOC124903927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10599827-10600650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10600651-10601475 Neighboring gene synthesis of cytochrome C oxidase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10616259-10616459 Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220 Neighboring gene mago homolog 2, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis]. Xu X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 May 10. PMID 31030430
    2. Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC. Pokrzywa M, et al. PLoS One, 2015. PMID 26544689, Free PMC Article
    3. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Chong JX, et al. Am J Hum Genet, 2015 May 7. PMID 25957469, Free PMC Article
    4. The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. Walklate J, et al. J Biol Chem, 2016 May 6. PMID 26945064, Free PMC Article
    5. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Racca AW, et al. Hum Mol Genet, 2015 Jun 15. PMID 25740846, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
      Title: Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
    2. Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
      Title: Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
    3. METTL3 achieves lipopolysaccharide-induced myocardial injury via m[6]A-dependent stabilization of Myh3 mRNA.
      Title: METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA.
    4. Recessive MYH3 variants cause ""Contractures, pterygia, and variable skeletal fusions syndrome 1B"" mimicking Escobar variant multiple pterygium syndrome.
      Title: Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
    5. Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
      Title: Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
    6. Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
      Title: Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
    7. Report a case-control study investigating the role of MYH3 among non-syndromic atrial septal defect patients in contributing to septal development. The non-synonymous c. 3574G>A (p.Ala1192Thr) [p = 0.001, OR = 2.30 (1.36-3.87)] located within the tail domain indicated a highly conserved protein region.
      Title: Mutations in the tail domain of MYH3 contributes to atrial septal defect.
    8. two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees
      Title: [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].
    9. Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders.
      Title: A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
    10. Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele.
      Title: Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Arthrogryposis, distal, type 2B3
    MedGen: C5193098 OMIM: 618436 GeneReviews: Not available
    		Compare labs
    Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
    MedGen: C1867440 OMIM: 178110 GeneReviews: Not available
    		Compare labs
    Contractures, pterygia, and variable skeletal fusions syndrome 1B
    MedGen: C5193114 OMIM: 618469 GeneReviews: Not available
    		Compare labs
    Freeman-Sheldon syndrome
    MedGen: C0265224 OMIM: 193700 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin filament binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables calmodulin binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables myosin phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in actin filament-based movement NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in embryonic limb morphogenesis IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in face morphogenesis IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle filament sliding TAS
    Traceable Author Statement
    more info
    		  
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sarcomere organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    part_of muscle myosin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcomere NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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..33767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002470.4 → NP_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, Q15492
      Related
      ENSP00000464317.1, ENST00000583535.6
      Conserved Domains (9) summary
      cd14913
      Location:100 → 767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88 → 767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:847 → 1924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:36 → 73
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:1739 → 1850
      TMPIT; TMPIT-like protein
      cl00459
      Location:1296 → 1408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843 → 962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:956 → 1063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:1373 → 1506
      COG6; Conserved oligomeric complex COG6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      10628532..10678417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523870.4 → XP_011522172.1  myosin-3 isoform X1

      See identical proteins and their annotated locations for XP_011522172.1

      UniProtKB/Swiss-Prot
      P11055, Q15492
      Conserved Domains (9) summary
      cd14913
      Location:100 → 767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88 → 767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:847 → 1924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:36 → 73
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:1739 → 1850
      TMPIT; TMPIT-like protein
      cl00459
      Location:1296 → 1408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843 → 962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:956 → 1063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:1373 → 1506
      COG6; Conserved oligomeric complex COG6

    2. XM_047436127.1 → XP_047292083.1  myosin-3 isoform X1

      UniProtKB/Swiss-Prot
      P11055, Q15492

    3. XM_011523871.3 → XP_011522173.1  myosin-3 isoform X1

      See identical proteins and their annotated locations for XP_011522173.1

      UniProtKB/Swiss-Prot
      P11055, Q15492
      Conserved Domains (9) summary
      cd14913
      Location:100 → 767
      MYSc_Myh3; class II myosin heavy chain 3, motor domain
      pfam00063
      Location:88 → 767
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:847 → 1924
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:36 → 73
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:1739 → 1850
      TMPIT; TMPIT-like protein
      cl00459
      Location:1296 → 1408
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
      cl03075
      Location:843 → 962
      GrpE; nucleotide exchange factor GrpE
      cl12013
      Location:956 → 1063
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl19764
      Location:1373 → 1506
      COG6; Conserved oligomeric complex COG6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      10536104..10585897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316234.1 → XP_054172209.1  myosin-3 isoform X1

    2. XM_054316235.1 → XP_054172210.1  myosin-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11055.3 GenPept UniProtKB/Swiss-Prot:P11055

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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