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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYH1 Gene

protein-coding   GIFtS: 62
GCID: GC17M010395

Myosin, Heavy Chain 1, Skeletal Muscle, Adult

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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     myHC-IIx/d2
Myosin Heavy Chain 2x2 3     myosin-12
Myosin Heavy Chain, Skeletal Muscle, Adult 12 3     MyHC-IIx/d3
MyHC-2x2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cerebral palsy, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Antioxidant Action of Vitamin-C. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12882

  • MYH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH1 Protein Expression
    REFSEQ proteins: NP_005954.3  
    ENSEMBL proteins: 
     ENSP00000226207  

    Human Recombinant Protein Products for MYH1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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

    MYH1 for ontologies           About GeneDecksing



    MYH1 Antibody Products: 
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    ThermoFisher Antibody for MYH1
    LSBio Antibodies in human, mouse, rat for MYH1 

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    Cloud-Clone Corp. ELISAs for MYH1 
    Cloud-Clone Corp. CLIAs for MYH1


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

    5/7 InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR015650 Myosin_1/23/4/7/8/13/15
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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  muscle  skeleton 

    MYH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myh1tm1Lnwd for MYH1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYH1 About   (see all 12)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH1
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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


    2         Kegg Pathways  (Kegg details for MYH1):
        Tight junction
    Viral myocarditis


    MYH1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYH1

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

    5/44 Interacting proteins for MYH1 (P128823 ENSP000002262074) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTR3BQ9P1U13, ENSP000002560014I2D: score=1 STRING: ENSP00000256001
    BAZ1BQ9UIG03, ENSP000003424344I2D: score=1 STRING: ENSP00000342434
    STAU1O957933, ENSP000003609224I2D: score=3 STRING: ENSP00000360922
    EXT1Q163943, ENSP000003674464I2D: score=1 STRING: ENSP00000367446
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MYH1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYH1 gene: 
    NM_005963.3  

    Unigene Cluster for MYH1:

    Myosin, heavy chain 1, skeletal muscle, adult
    Hs.689619  [show with all ESTs]
    Unigene Representative Sequence: NM_005963
    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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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MYH1:
    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-2113
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    Additional mRNA sequence: 

    AF111785.1 AK310004.1 BC022376.2 BC114545.1 X03740.1 

    14 DOTS entries:

    DT.95333920  DT.121011605  DT.100020750  DT.450952  DT.92452448  DT.92452462  DT.121011611  DT.409212 
    DT.121011650  DT.91911734  DT.92452465  DT.95069216  DT.121011618  DT.95134937 

    24/360 AceView cDNA sequences (see all 360):

    F29771 AF111784 F36130 AA214068 CF552962 F26552 F22765 F27834 
    F16647 F28298 F28725 F26983 F36197 AA192637 AA196858 AJ573934 
    BX500391 F23374 AA180982 CF552204 F17086 F32042 F34834 F29611 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYH1 expression in normal human tissues (normalized intensities)      MYH1 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 21 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             skeletal muscle ; myocytes   
             deltoid muscle   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Heart (Cardiovascular System)
             heart muscle ; myocytes   
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Larynx (Respiratory System)

    See MYH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH1

    SOURCE GeneReport for Unigene cluster: Hs.689619
        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MYH1 gene from 3/12 species (see all 12)    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 90.85(n)1
    96.8(a)1
      11 (40.59 cM)5
    178791  NM_030679.11  NP_109604.11 
     672000525 
    chicken
    (Gallus gallus)
    Aves MYH11 myosin, heavy chain 1, skeletal muscle, adult 84.61(n)
    91.9(a)
      417309  NM_001013396.1  NP_001013414.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    91(a)
    89(a)
    many ↔ many
    many ↔ many
    2(108951248-109016986)
    2(109022921-109052169)


    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)
    About This Section
    Paralogs for MYH1 gene
    MYH82  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/24 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/856 SNPs in MYH1 are shown (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--------
    VAR_0647354
    ----see VAR_0647352 Q K 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

    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

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 160730    OMIM disorders: --

    12 diseases for MYH1:    About MalaCards
    hypoadrenalism    cerebral palsy    clubfoot    myocarditis
    spasticity    cerebritis    myopathy    cholangiocarcinoma
    colorectal cancer    adenoma    gastric cancer    hepatocellular carcinoma


    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)
    About This Section

    PubMed articles for MYH1 gene, integrated from 9 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 mut ations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)1, 4 Shyy W....Morcuende J.A. (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. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Analysis of candidate genes in occurrence and growth of colorectal adenomas. (PubMed id 19888426)1, 4 Olschwang S....Bonaiti-PelliAc C. (2009)
    5. Explorative study to identify novel candidate genes r elated to oxaliplatin efficacy and toxicity using a DNA repair array. (PubMed id 19536092)1, 4 Kweekel D.M....Guchelaar H.J. (2009)
    6. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. (PubMed id 19169759)1, 4 Lefevre J.H....Tiret E. (2009)
    7. The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle. (PubMed id 18495334)1, 4 Avezzu A....Viel A. (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. (2008)
    9. Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. (PubMed id 17674103)1, 4 Bouguen G....Bretagne J.F. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4619 HGNC: 7567 AceView: MYH1andMYH4andMYH2 Ensembl:ENSG00000109061 euGenes: HUgn4619
    ECgene: MYH1 Kegg: 4619 H-InvDB: MYH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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