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

MYOD1 Gene

protein-coding   GIFtS: 63
GCID: GC11P017741

myogenic differentiation 1

(Previous name: myogenic factor 3 )
(Previous symbol: MYF3)
 Explore 46 diseases affiliated with
MYOD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYOD1    

Aliases
for MYOD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myogenic Differentiation 11 2     Class C Basic Helix-Loop-Helix Protein 12 3
MYF31 2 3 5     Myf-33
Myogenic Factor 31 2 3     Myoblast Determination Protein 12
MYOD1 2 3     BHLHC13
BHLHc11     Myf-33
PUM1 2     

External Ids:    HGNC: 76111   Entrez Gene: 46542   Ensembl: ENSG000001291527   OMIM: 1599705   UniProtKB: P151723   

Export aliases for MYOD1 gene to outside databases

Previous GC identifers: GC11P018862 GC11P018683 GC11P017780 GC11P017705 GC11P017697 GC11P017425


Summaries
for MYOD1 gene

(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 MYOD1:
This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the
myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for
myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may
stabilize commitment to myogenesis. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYOD1_HUMAN, P15172
Function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts.
Activates muscle-specific promoters. Interacts with and is inhibited by the twist protein. This interaction probably
involves the basic domains of both proteins (By similarity)

Gene Wiki entry for MYOD1 (MyoD)


Genomic Views
for MYOD1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYOD1 gene promoter:
         PPAR-gamma1   p300   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYOD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYOD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOD1


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15

MYOD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOD1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P017741:  view genomic region     (about GC identifiers)

Start:
 17,741,110 bp from pter      End:
 17,743,678 bp from pter
Size:
 2,569 bases      Orientation:
 plus strand

Proteins
for MYOD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: MYOD1_HUMAN, P15172 (See protein sequence)
Recommended Name: Myoblast determination protein 1  
Size: 320 amino acids; 34501 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with
ITF-2. Interacts with SUV39H1 and CDK9. Interacts with DDX5 (By similarity)
Subcellular location: Nucleus
Secondary accessions: O75321

Explore the universe of human proteins at neXtProt for MYOD1: NX_P15172

Post-translational modifications:

  • Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation1
  • Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely,
    • its deacetylation by SIRT1 inhibits its function (By similarity)1
  • Ubiquitinated on the N-terminus; which is required for proteasomal degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15172

    • MYOD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002469.2  
    ENSEMBL proteins: 
     ENSP00000250003  
    Reactome Protein details: P15172
    Human Recombinant Protein Products: 
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    Novus Biologicals MYOD1 Proteins
    Novus Biologicals MYOD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus TAS3175662
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ISS--
    GO:0005737cytoplasm ----


    MYOD1 for ontologies           About GeneDecksing



    MYOD1 Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for MYOD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYOD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002546 Basic
     IPR011598 HLH_dom
     IPR022032 Myf5

    Graphical View of Domain Structure for InterPro Entry P15172

    ProtoNet protein and cluster: P15172

    2 Blocks protein families:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB002546 Myogenic basic muscle-specific protein


    UniProtKB/Swiss-Prot: MYOD1_HUMAN, P15172
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for MYOD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: MYOD1_HUMAN, P15172
    Function: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts.
    Activates muscle-specific promoters. Interacts with and is inhibited by the twist protein. This interaction probably
    involves the basic domains of both proteins (By similarity)

         Genatlas biochemistry entry for MYOD1:
    myogenic differentiation 1,transcription activator of muscle specific genes,promoting cell cycle exit by inducing
    CDKNIA

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOD1
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOD1 (see all 16):
    hsa-miR-3128 hsa-miR-520d-5p hsa-miR-548l hsa-miR-330-3p hsa-miR-518c hsa-miR-518f hsa-miR-4283 hsa-miR-577
    SwitchGear 3'UTR luciferase reporter plasmid: MYOD1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: MYOD1
    OriGene siRNA: MYOD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYOD1

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for MYOD1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS1846704
    GO:0003713transcription coactivator activity TAS1846704
    GO:0005515protein binding IPI10915743


    MYOD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for MYOD1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
         Mouse knock-outs for MYOD1: Myod1tm1.1Glh Myod1tm1Glh Myod1tm1Jae
         11 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Myod1):
     adipose tissue  cardiovascular system  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  no phenotypic analysis  normal  reproductive system  respiratory system 
     skeleton 

    MYOD1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYOD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Notch Signaling Pathway
    		Development_Notch Signaling Pathway1.00
    		Development Notch Signaling Pathway0.97
    2Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    		Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis1.00
    		Development_Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis0.97
    3Activation of p38 alpha/beta MAPK
    		CDO in myogenesis0.55
    		Myogenesis0.55
    4miRs in Muscle Cell Differentiation
    		miRs in Muscle Cell Differentiation1.00
    5Notch-mediated HES/HEY network
    		Notch-mediated HES/HEY network1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for MYOD1
        Development Notch Signaling Pathway
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis

    1 R&D Systems Pathway for MYOD1
        TGF-beta Signaling Pathways


    2 GeneGo (Thomson Reuters) Pathways for MYOD1
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Development Notch Signaling Pathway

    5/7 BioSystems Pathways for MYOD1 (see all 7) 
        Id Signaling Pathway
    Notch-mediated HES/HEY network
    miRs in Muscle Cell Differentiation
    C-MYB transcription factor network
    Regulation of nuclear SMAD2/3 signaling

    3        Reactome Pathways for MYOD1
        Developmental Biology
    Myogenesis
    CDO in myogenesis



    MYOD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYOD1

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

    5/116 Interacting proteins for MYOD1 (P151721, 2, 3 ENSP000002500034) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS1846704
    GO:0006468protein phosphorylation TAS3175662
    GO:0007517muscle organ development TAS1846704
    GO:0007518myoblast cell fate determination IEA--


    MYOD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYOD1 gene

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

    MYOD1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MYOD1
    10/46 Novoseek chemical compound relationships for MYOD1 gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 37.7 24 9268344 (1), 17942416 (1), 1847137 (1), 12196028 (1) (see all 21)
    retinoic acid 31.7 18 1520304 (4), 11024001 (4), 19757389 (1), 14623241 (1) (see all 9)
    chlorate 31.5 1 11784020 (1)
    lactacystin 28.8 1 9917519 (1)
    bromodeoxyuridine 25.7 1 16750930 (1)
    acetylcholine 17.9 8 8393291 (1), 14662021 (1), 18293705 (1), 8383334 (1) (see all 6)
    mg 132 17 1 10942602 (1)
    threonine 16.5 4 9804168 (1), 1651276 (1), 9418854 (1)
    leucine 11.4 1 1310896 (1)
    chloramphenicol 7.84 1 8336713 (1)

    Search CenterWatch for drugs/clinical trials and news about MYOD1 

    Transcripts
    for MYOD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MYOD1 gene: 
    NM_002478.4  

    Unigene Cluster for MYOD1:

    Myogenic differentiation 1
    Hs.181768  [show with all ESTs]
    Unigene Representative Sequence: NM_002478
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000250003(uc001mni.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOD1
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOD1 (see all 16):
    hsa-miR-3128 hsa-miR-520d-5p hsa-miR-548l hsa-miR-330-3p hsa-miR-518c hsa-miR-518f hsa-miR-4283 hsa-miR-577
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK314968.1 BC064493.1 BT007157.1 X17650.1 X56677.1 

    4 DOTS entries:

    DT.100828831  DT.95218213  DT.86848246  DT.91770652 

    24/86 AceView cDNA sequences (see all 86):

    CR612159 BC064493 NM_002478 AI300241 BE296570 BI115390 BE298382 BE019098 
    BF205042 BU738397 BF205585 BF205507 BF309452 BF309465 BF203994 BI114877 
    BF304451 BE270155 BE250705 BE299768 BX359424 BF219762 BG828102 BF204506 

    GeneLoc Exon Structure


    Expression
    for MYOD1 gene

    (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

    MYOD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGTGTGGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYOD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/70 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 70) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeHypobranchial MusclesMyoblastsSkeletal Muscle
    LimbForelimb Dorsal MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    LimbForelimb Ventral MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMyoblastsSkeletal Muscle
    LimbHindlimb Dorsal MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMyoblastsSkeletal Muscle
    LimbHindlimb Ventral MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMyoblastsSkeletal Muscle
    Skeletal MuscleExtraocular MusclesMultinuclear MyocyteSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PDGFRA and ECD positive cells (Generation of skelet...)
    Mesoderm-like cells (Generation of skelet...)
    Skeletal myocytes (Generation of skelet...)
    NCAM-positive cells (Generation of skelet...)
    Skeletal myocytes (Generation of skelet...)
    Mesendoderm cells (Generation of skelet...)

    See MYOD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYOD1

    SOURCE GeneReport for Unigene cluster: Hs.181768
        SABiosciences Expression via Pathway-Focused PCR Arrays including MYOD1 (see all 10): 
              Terminal Differentiation Markers in human mouse rat
              Lymphoma in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Stem Cells in human mouse rat
              Cell Lineage Identification in human mouse rat

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    In Situ
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    Orthologs
    for MYOD1 gene

    (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 animals.

    Orthologs for MYOD1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYOD11 myogenic differentiation 1 72.74(n)
    69.76(a)    		   374048  NM_204214.1  NP_989545.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MYOD16
    		 --
    		 63(a)
    		 1 ↔ 1
    		 1(67299794-67308681)
    zebrafish
    (Danio rerio)    		 Actinopterygii myod11 myogenic differentiation 1 66.67(n)
    70.34(a)    		   30513  NM_131262.2  NP_571337.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta nau6
    		 nautilus
    		 25(a)
    		 1 → many
    		 3R(19538536-19544079)
    worm
    (Caenorhabditis elegans)    		 Secernentea hlh-16
    		 Myoblast determination protein 1 homolog
    		 19(a)
    		 1 → many
    		 II(4518557-4522454)


    ENSEMBL Gene Tree for MYOD1 (if available)
    TreeFam Gene Tree for MYOD1 (if available) 

    Paralogs
    for MYOD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYOD1 gene
    MYF52  MYF62  MYOG2  
    2 SIMAP similar genes for MYOD1 using alignment to 1 protein entry:     MYOD1_HUMAN:
    MYF5    MYOG

    MYOD1 for paralogs           About GeneDecksing



    Genomic Variants
    for MYOD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/82 NCBI SNPs in MYOD1 are shown (see all 82)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1465188941,2
    		--17739177(+) AGTCTA/TGGTTT 1 -- us2k10--------
    rs570097111,2
    		C,--17739201(+) AGCCCC/AACACT 1 -- us2k12Minor allele frequency- A:0.14WA 120
    rs728678621,2
    		C,--17739255(+) ATTTCC/TGGGTG 1 -- us2k10--------
    rs27345561,2
    		H--17739302(+) TGCTGC/GCTCTG 1 -- us2k14Minor allele frequency- G:0.00NS EA 412
    rs1806963751,2
    		--17739404(+) GAGTAC/GTTCAT 1 -- us2k10--------
    rs747079521,2
    		C,--17739463(+) TAGGAC/TCCCAA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs599390091,2
    		C,--17739550(+) TAGTGG/AGAAAG 1 -- us2k12Minor allele frequency- A:0.03WA 120
    rs766240751,2
    		--17739661(+) CTGTGT/CGAACT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs79385561,2
    		C,F,H,--17739729(+) GTATGG/AGAGCC 1 -- us2k113Minor allele frequency- A:0.09NS NA WA 1834
    rs618805891,2
    		--17739849(+) GGGCAC/TGGTAC 1 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for MYOD1 (17741110 - 17743678 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MYOD1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYOD1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYOD1

    Disorders / Diseases
    for MYOD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MYOD1 for disorders           About GeneDecksing

    OMIM gene information: 159970    OMIM disorders: --

    20/46 diseases for MYOD1 (see all 46):    About MalaCards
    malignant fibrous histiocytoma    fibrous histiocytoma    desmoplastic small round cell tumor    alveolar soft part sarcoma
    skeletal muscle regeneration    beckwith-wiedemann syndrome    inclusion body myositis    muscular dystrophy
    malignant fibrous histiocytoma of bone    oculopharyngeal muscular dystrophy    botryoid rhabdomyosarcoma    duchenne muscular dystrophy
    histiocytoma    myotonic dystrophy    soft tissue sarcoma    mesenchymal chondrosarcoma
    rhabdomyosarcoma    rhabdoid tumors    chronic obstructive pulmonary disease    insulin resistance

    7 diseases from the University of Copenhagen DISEASES database for MYOD1:
    Rhabdomyosarcoma     Myopathy     Neuropathy     Alveolar soft part sarcoma
    Sarcoma     Retinoblastoma     Ectomesenchymoma

    10/35 Novoseek disease relationships for MYOD1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyosarcoma 80.1 49 19299559 (5), 2260621 (5), 8383879 (5), 12783965 (2) (see all 25)
    rhabdomyosarcoma embryonal 69.3 5 16010486 (1), 18656317 (1), 19299559 (1), 16220232 (1)
    rhabdomyosarcoma alveolar 55.3 1 9256013 (1)
    sarcoma alveolar soft part 49 6 10383802 (4), 12778001 (1), 1656801 (1)
    rhabdoid tumor 44.4 1 2260621 (1)
    sarcoma extraosseous ewings 43.9 1 2260621 (1)
    hypertrophy 43.7 5 12716875 (1), 17661068 (1), 17395765 (1), 20124796 (1) (see all 5)
    retinoblastoma 41.9 5 7970718 (2), 12665587 (1), 10601020 (1), 8400456 (1)
    muscular dystrophies 41.6 2 19358679 (1), 18334989 (1)
    malignant fibrous histiocytoma 40 1 2260621 (1)

    Human Genome Epidemiology (HuGE) Navigator: MYOD1 (3 documents)
    Tumor Gene Database (TGDB): MYOD1

    Export disorders for MYOD1 gene to outside databases

    Publications
    for MYOD1 gene

    (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 MYOD1 gene, integrated from 9 sources (see all 622):
    (articles sorted by number of sources associating them with MYOD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Control of muscle development by dueling HATs and HDACs. (PubMed id 11532390)1, 2, 9 McKinsey T.A.... Olson E.N. (2001)
    2. Histone methyltransferase Suv39h1 represses MyoD-stimulated myogenic differentiation. (PubMed id 16858404)1, 2 Mal A.K. (2006)
    3. A novel site for ubiquitination: the N-terminal residue, and not internal lysines of MyoD, is essential for conjugation and degradation of the protein. (PubMed id 9774340)1, 2 Breitschopf K.... Ciechanover A. (1998)
    4. Methylation alterations of the MyoD1 upstream region are predictive of subclassification of human rhabdomyosarcomas. (PubMed id 9546368)1, 2 Chen B.... Parham D.M. (1998)
    5. Human MyoD: cDNA and deduced amino acid sequence. (PubMed id 1850513)1, 2 Pearson-White S.H. (1991)
    6. Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products. (PubMed id 2583111)1, 2 Braun T....Arnold H.H. (1989)
    7. Phosphorylation of nuclear MyoD is required for its rapid degradation. (PubMed id 9710583)1, 9 Song A....Harrington M.A. (1998)
    8. Critical role for lysine 133 in the nuclear ubiquitin-mediated degradation of MyoD. (PubMed id 14660660)1, 9 Batonnet S....Leibovitch S.A. (2004)
    9. Direct inhibition of G(1) cdk kinase activity by MyoD promotes myoblast cell cycle withdrawal and terminal differentiation. (PubMed id 10601020)1, 9 Zhang J.M....Paterson B.M. (1999)
    10. MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. (PubMed id 19299559)1, 9 Yang Z....Tapscott S.J. (2009)

    External Searches for MYOD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MYOD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4654 HGNC: 7611 AceView: MYOD1 Ensembl:ENSG00000129152 euGenes: HUgn4654
    ECgene: MYOD1 H-InvDB: MYOD1

    Other Databases showing MYOD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYOD1 gene

    (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 MYOD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYOD1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/MyoD

    Intellectual Property
    for MYOD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MYOD1 gene:
    Search GeneIP for patents involving MYOD1

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



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