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MYH1 Gene

protein-coding   GIFtS: 60
GCID: GC17M010395

Myosin, Heavy Chain 1, Skeletal Muscle, Adult

(Previous names: myosin, heavy polypeptide 1, skeletal muscle, adult)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Heavy Chain 1, Skeletal Muscle, Adult1 2     MYHSA12
Myosin Heavy Chain IIx/D1 2 3     MYHa2
Myosin, Heavy Polypeptide 1, Skeletal Muscle, Adult1 2     MyHC-2X/D2
Myosin Heavy Chain 12 3     Epididymis Luminal Protein 712
Myosin Heavy Chain 2x2 3     myHC-IIx/d2
Myosin Heavy Chain, Skeletal Muscle, Adult 12 3     myosin-12
MyHC-2x2 3     MyHC-IIx/d3
HEL712     

External Ids:    HGNC: 75671   Entrez Gene: 46192   Ensembl: ENSG000001090617   OMIM: 1607305   UniProtKB: P128823   

Export aliases for MYH1 gene to outside databases

Previous GC identifers: GC17U990062 GC17M011510 GC17M010338 GC17M010596 GC17M010336


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYH1 Gene:
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. Myosin heavy chains are encoded by a multigene family. In mammals at least 10
different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These
isoforms show expression that is spatially and temporally regulated during development. (provided by RefSeq, Jul
2008)

GeneCards Summary for MYH1 Gene:
MYH1 (myosin, heavy chain 1, skeletal muscle, adult) is a protein-coding gene. Diseases associated with MYH1 include hypoadrenalism, and clubfoot. GO annotations related to this gene include motor activity and actin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH1_HUMAN, P12882
Function: Muscle contraction

summary for MYH1 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the MYH1 gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   E2F-2   GATA-2   E2F   E2F-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH1 promoter sequence
   Search Chromatin IP Primers for MYH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

MYH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010395:  view genomic region     (about GC identifiers)

Start:
10,395,624 bp from pter      End:
10,421,860 bp from pter
Size:
26,237 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYH1_HUMAN, P12882 (See protein sequence)
Recommended Name: Myosin-1  
Size: 1939 amino acids; 223145 Da
Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain
subunits (MLC) and 2 regulatory light chain subunits (MLC-2)
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-1
(MYO1)
Secondary accessions: Q14CA4 Q9Y622

Explore the universe of human proteins at neXtProt for MYH1: NX_P12882

Explore proteomics data for MYH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005954.3  
    ENSEMBL proteins: 
     ENSP00000226207  
    Reactome Protein details: P12882

    MYH1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MYH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYHII: Myosins / Myosin superfamily : Class II

    Selected InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR015650 Myosin_1/23/4/6/7/8/13/15
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry P12882

    ProtoNet protein and cluster: P12882

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH1_HUMAN, P12882
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of
    4 heptapeptides, characteristic for alpha-helical coiled coils
    Domain: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can
    later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2)
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    MYH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH1_HUMAN, P12882
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH1:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 1,skeletal
    muscle,adult

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    MYH1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myh1):
     behavior/neurological  growth/size/body  muscle  skeleton 

    MYH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myh1tm1Lnwd for MYH1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH1

    miRNA
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    miRTarBase miRNAs that target MYH1:
    hsa-mir-23a-3p (MIRT006907)

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    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYH1_HUMAN, P12882: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus ----
    GO:0005859muscle myosin complex IDA18310078
    GO:0005925focal adhesion ----
    GO:0014704intercalated disc IEA--

    MYH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYH1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    5RhoGDI Pathway
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH1 (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    Selected GeneGo (Thomson Reuters) Pathways for MYH1 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    1 Reactome Pathway for MYH1
        Translocation of GLUT4 to the plasma membrane


    1 Kegg Pathway  (Kegg details for MYH1):
        Tight junction


    MYH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH1: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MYH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYH1 (P128823 ENSP000002262074) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAZ1BQ9UIG03, ENSP000003424344I2D: score=1 STRING: ENSP00000342434
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    STAU1O957933, ENSP000003609224I2D: score=3 STRING: ENSP00000360922
    EXT1Q163943, ENSP000003674464I2D: score=1 STRING: ENSP00000367446
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction IEA--

    MYH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MYH1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    1 Novoseek inferred chemical compound relationship for MYH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 8.67 2 16889886 (1), 8898008 (1)



    MYH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYH1 gene: 
    NM_005963.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000226207(uc002gmo.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-2113
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    Selected AceView cDNA sequences (see all 360):

    F24083 F28725 F16303 F26983 F21722 F32013 F18149 F26552 
    F29771 F22765 AF111784 F24623 F28298 BC022376 F27834 AL596540 
    AA192637 F25815 F32753 AA197171 BU738138 AJ573934 F17086 F36197 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b
    SP1:                                                                                                                                    
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for MYH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGAAAAGT
    MYH1 Expression
    About this image


    MYH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             Myotubes
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     NULL (Uncategorized)
             Expanded PAX7 cells
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Ovary (Reproductive System)
    MYH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH1: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MYH1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYH1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh11 , 5 myosin, heavy polypeptide 1, skeletal muscle, adult1, 5 90.82(n)1
    96.75(a)1
      11 (40.59 cM)5
    178791  NM_030679.11  NP_109604.11 
     672000525 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    91(a)
    many ↔ many
    18(619454-638720)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004956381 myosin-4-like 77.26(n)
    83.99(a)
      100495638  XM_002935208.2  XP_002935254.1 


    ENSEMBL Gene Tree for MYH1 (if available)
    TreeFam Gene Tree for MYH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH1 gene
    MYH82  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH1 using alignment to 2 protein entries:     MYH1_HUMAN (see all proteins) (see all similar genes):
    MYH8    MYH2    MYH4    MYH6    MYH7    MYH13
    MYH3    MYH7B    MYH15    MYH16    MYH14    MYH11
    MYH9    MYH10    MYO5C    MYO1C    MYO15A    MYO7B

    MYH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYH1 (see all 856)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360034
    A breast cancer sample4--see VAR_0360032 S L mis40--------
    VAR_0360054
    A breast cancer sample4--see VAR_0360052 V M mis40--------
    VAR_0360044
    A breast cancer sample4--see VAR_0360042 A T mis40--------
    rs1487252661,2
    C--10395134(+) AAAGGG/TCCAGA 1 -- ds50010--------
    rs1420410511,2
    --10395384(+) TTTGTC/TAAGTA 1 -- ds50010--------
    rs1847488721,2
    --10395392(+) GTAAGG/TTTTAC 1 -- ds50010--------
    rs1463455051,2
    --10395406(+) ATATTC/GTATGT 1 -- ds50010--------
    rs1894845961,2
    --10395414(+) TGTTTC/TATGGC 1 -- ds50010--------
    rs169434641,2
    C,F--10395500(+) TCTCTA/GTCATG 1 -- ds50013Minor allele frequency- G:0.01NA 142
    rs1508589881,2
    C,F--10395816(+) AGCCCA/C/GTTCCT 3 R G W mis12NA EU 5873

    HapMap Linkage Disequilibrium report for MYH1 (10395624 - 10421860 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MYH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907681CNV Loss21882294
    nsv907679CNV Gain21882294
    nsv833366CNV Gain17160897
    nsv907673CNV Gain21882294
    nsv520771CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160730    OMIM disorders: --

    16 diseases for MYH1:    
    About MalaCards
    hypoadrenalism    clubfoot    cerebral palsy    myocarditis
    primary sclerosing cholangitis    sclerosing cholangitis    cholangitis    spasticity
    myopathy    breast and colorectal cancer    cerebritis    cholangiocarcinoma
    colorectal cancer    adenoma    hepatocellular carcinoma    cervicitis


    MYH1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYH1
    Human Genome Epidemiology (HuGE) Navigator: MYH1 (22 documents)

    Export disorders for MYH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYH1 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with MYH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)1, 4 Shyy W....Morcuende J.A. (J Pediatr Orthop 2010)
    2. A common mutation of the MYH gene is associated with increased DNA oxidation and age-related diseases. (PubMed id 19932167)1, 4 Sun C....Wang Y. (amp 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Analysis of candidate genes in occurrence and growth of colorectal adenomas. (PubMed id 19888426)1, 4 Olschwang S....Bonaiti-PelliAc C. (J Oncol 2009)
    5. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. (PubMed id 19536092)1, 4 Kweekel D.M....Guchelaar H.J. (Br. J. Cancer 2009)
    6. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. (PubMed id 19169759)1, 4 Lefevre J.H....Tiret E. (Ann. Surg. Oncol. 2009)
    7. The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. (PubMed id 18495334)1, 4 AvezzA^ A....Viel A. (Cancer Lett. 2008)
    8. Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population. (PubMed id 18848840)1, 4 Wu F....Xia Z. (Toxicol. Appl. Pharmacol. 2008)
    9. Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. (PubMed id 17674103)1, 4 Bouguen G....Bretagne J.F. (Dis. Colon Rectum 2007)
    10. MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas. (PubMed id 17252231)1, 4 Kim J.C....Lee K.H. (Virchows Arch. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4619 HGNC: 7567 AceView: MYH1andMYH4andMYH2 Ensembl:ENSG00000109061 euGenes: HUgn4619
    ECgene: MYH1 Kegg: 4619 H-InvDB: MYH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH1 gene:
    Search GeneIP for patents involving MYH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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