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MSX1 Gene

protein-coding   GIFtS: 64
GCID: GC04P004861

Msh Homeobox 1

(Previous names: msh (Drosophila) homeo box homolog 1 (formerly homeo box...)
(Previous symbol: HOX7)
  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)
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Aliases
Msh Homeobox 11 2     Msh (Drosophila) Homeo Box Homolog 1 (Formerly Homeo Box 7)1
HOX71 2 3 5     Msh Homeobox Homolog 1 (Drosophila)1
Homeobox Protein Hox-72 3     Homeobox 72
Msh Homeobox 1-Like Protein2 3     Homeobox Protein MSX-12
ECTD32 5     Msh Homeo Box 12
HYD12 5     Msh Homeobox Homolog 12
STHAG12 5     OFC55

External Ids:    HGNC: 73911   Entrez Gene: 44872   Ensembl: ENSG000001631327   OMIM: 1429835   UniProtKB: P283603   

Export aliases for MSX1 gene to outside databases

Previous GC identifers: GC04P004739 GC04P004907 GC04P004925 GC04P004979


(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 MSX1 Gene:
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a
transcriptional repressor during embryogenesis through interactions with components of the core transcription
complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development,
particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox
7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome,
Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. (provided by RefSeq, Jul 2008)

GeneCards Summary for MSX1 Gene:
MSX1 (msh homeobox 1) is a protein-coding gene. Diseases associated with MSX1 include orofacial cleft 5, and tooth and nail syndrome. GO annotations related to this gene include p53 binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DLX2.

UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360
Function: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial
development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for
nail plate thickness and integrity

Gene Wiki entry for MSX1 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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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006051.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the MSX1 gene promoter:
         SRF   GATA-3   p53   AP-1   ATF-2   SRF (504 AA)   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMSX1 promoter sequence
   Search Chromatin IP Primers for MSX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MSX1


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

Entrez Gene cytogenetic band: 4p16.2   Ensembl cytogenetic band:  4p16.2   HGNC cytogenetic band: 4p16.2

MSX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSX1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P004861:  view genomic region     (about GC identifiers)

Start:
4,861,392 bp from pter      End:
4,865,663 bp from pter
Size:
4,272 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360 (See protein sequence)
Recommended Name: Homeobox protein MSX-1  
Size: 303 amino acids; 31496 Da
Caution: It is uncertain whether Met-1 or Met-7 is the initiator
Sequence caution: Sequence=AAA52683.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA58665.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH67353.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL17870.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q96NY4

Explore the universe of human proteins at neXtProt for MSX1: NX_P28360

Explore proteomics data for MSX1 at MOPED

Post-translational modifications: 

  • Sumoylated by PIAS1, desumoylated by SENP1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MSX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002439.2  
    ENSEMBL proteins: 
     ENSP00000372170  

    MSX1 Human Recombinant Protein Products:

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    OriGene Purified Protein for MSX1
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    OriGene MassSpec for MSX1
    OriGene Custom Protein Services for MSX1
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    Novus Biologicals MSX1 Protein
    Novus Biologicals MSX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MSX1

    MSX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MSX1
    R&D Systems Antibodies for MSX1
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    OriGene Custom Antibody Services for MSX1
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    Cloud-Clone Corp. Antibodies for MSX1
    ThermoFisher Antibodies for MSX1
    LSBio Antibodies in human, mouse, rat for MSX1

    MSX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MSX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MSX1
    Cloud-Clone Corp. CLIAs for MSX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NKL: Homeoboxes / ANTP class : NKL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P28360

    ProtoNet protein and cluster: P28360

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360
    Similarity: Belongs to the Msh homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    MSX1 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: MSX1_HUMAN, P28360
    Function: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial
    development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for
    nail plate thickness and integrity

         Genatlas biochemistry entry for MSX1:
    Drosophila,muscle segment (msh) homolog 1,homeo domain encoding gene,inhibiting MYOD1 expression,highly expressed
    in dental mesenchyme during critical bud stage,involved in epithelial-mesenchymal signaling in many organs,and in
    the pathogenesis of cleft lip and palate,interacting with MSX2 in mouse limb bud patterning

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IEA--
    GO:0001228RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0002039p53 binding IPI15705871
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
         
    MSX1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MSX1:
     Decreased focal adhesion (FA)   Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Msx1) (see all 18):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    MSX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Msx1tm1Rilm for MSX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MSX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MSX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MSX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSX1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MSX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MSX1 (see all 22):
    hsa-miR-495 hsa-miR-607 hsa-miR-188-5p hsa-miR-374a hsa-miR-144 hsa-miR-7-1* hsa-miR-3121-3p hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidMSX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MSX1
    Predesigned siRNA for gene silencing in human, mouse, rat MSX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MSX1

    Clone
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    OriGene clones in human, mouse for MSX1 (see all 7)
    OriGene ORF clones in mouse, rat for MSX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MSX1 (NM_002448)
    Sino Biological Human cDNA Clone for MSX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MSX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX1


    (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
    MSX1_HUMAN, P28360: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    MSX1 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 MSX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2Neuroscience
    Neuroscience
    3Neural Crest Differentiation
    Neural Crest Differentiation
    4HTLV-I infection
    HTLV-I infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MSX1
        Wnt / Hedgehog / Notch
    Neuroscience

    1 BioSystems Pathway for MSX1
        Neural Crest Differentiation



    1 Kegg Pathway  (Kegg details for MSX1):
        HTLV-I infection


    MSX1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MSX1: 
              Prostate Cancer in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MSX1

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

    Selected Interacting proteins for MSX1 (P283603 ENSP000003721704) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046373, ENSP000002693054I2D: score=4 STRING: ENSP00000269305
    PIAS1O759253, ENSP000002496364I2D: score=2 STRING: ENSP00000249636
    TAF1P216753, ENSP000002760724I2D: score=2 STRING: ENSP00000276072
    TBPP202263, ENSP000002303544I2D: score=2 STRING: ENSP00000230354
    AESQ081173, ENSP000002215614I2D: score=1 STRING: ENSP00000221561
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 52):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000902cell morphogenesis IDA15705871
    GO:0001701in utero embryonic development IEA--
    GO:0001837epithelial to mesenchymal transition ----
    GO:0003007heart morphogenesis ----

    MSX1 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 

    Browse Tocris compounds for MSX1

    1 Novoseek inferred chemical compound relationship for MSX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 12.6 1 7866431 (1)



    MSX1 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,
    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 MSX1 gene: 
    NM_002448.3  

    Unigene Cluster for MSX1:

    Msh homeobox 1
    Hs.424414  [show with all ESTs]
    Unigene Representative Sequence: NM_002448
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382723(uc003gif.3) ENST00000468421
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MSX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MSX1 (see all 22):
    hsa-miR-495 hsa-miR-607 hsa-miR-188-5p hsa-miR-374a hsa-miR-144 hsa-miR-7-1* hsa-miR-3121-3p hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidMSX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MSX1
    Predesigned siRNA for gene silencing in human, mouse, rat MSX1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MSX1 (NM_002448)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX1
    Primer
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    OriGene qPCR primer pairs and template standards for MSX1
    OriGene qSTAR qPCR primer pairs in human, mouse for MSX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MSX1
      QuantiTect SYBR Green Assays in human, mouse, rat MSX1
      QuantiFast Probe-based Assays in human, mouse, rat MSX1

    Additional mRNA sequence: 

    AK290636.1 BC021285.2 BC067353.1 M97676.1 

    5 DOTS entries:

    DT.214571  DT.95364144  DT.87013468  DT.95364145  DT.97772602 

    Selected AceView cDNA sequences (see all 72):

    AI274476 AI634668 AI095600 AI089693 W35226 AI087280 CD370820 AU117561 
    BU624781 BC021285 AW297381 BF726560 BC067353 AI128101 AA045226 BF476501 
    AI421295 AI363241 BE272990 BX092882 AA443199 BV177440 N42020 AA039806 

    GeneLoc Exon Structure


    (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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    MSX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCTGCAT
    MSX1 Expression
    About this image


    MSX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 27) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
             Maxillary Process
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Prechondrocytic Mesenchymal Cells Annulus Fibrosus
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             Neurospheres
     
     Neural Tube (Nervous System)    fully expand to see all 10 entries
             Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
             Mesencephalic Floor Plate
             Floor plate-like cells
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 7 entries
             Mesencephalic Neural Crest Cells Prechordal Mesenchyme
             Branchial Arch 1
    MSX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MSX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.424414

    UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360
    Tissue specificity: Expressed in the developing nail bed mesenchyme

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MSX1: 
              Prostate Cancer in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MSX1
    OriGene qSTAR qPCR primer pairs in human, mouse for MSX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MSX1
    QuantiTect SYBR Green Assays in human, mouse, rat MSX1
    QuantiFast Probe-based Assays in human, mouse, rat MSX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX1

    (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 animals.

    Orthologs for MSX1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Msx11 , 5 homeobox, msh-like 15
    msh homeobox 11
    88.12(n)1
    93.73(a)1
      5 (20.21 cM)5
    177011  NM_010835.21  NP_034965.21 
     378204855 
    chicken
    (Gallus gallus)
    Aves MSX11 msh homeobox 1 78.17(n)
    80.28(a)
      396484  NM_205488.2  NP_990819.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSX16
    msh homeobox 1
    73(a)
    1 ↔ 1
    GL343236.1(1021475-1030145)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164492 X. laevis mRNA for homeobox containing peptide Xhox more 78.19(n)    X58773.1 
    zebrafish
    (Danio rerio)
    Actinopterygii msxe2 muscle segment homeobox E 82.77(n)   30527  NM_131273.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dr3 dorsal/ventral pattern formation,
    imaginal disc more
    47(a)   3 99B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea vab-153 homeobox protein (msh subfamily) 67(a)   X(9882528-9884350)   --


    ENSEMBL Gene Tree for MSX1 (if available)
    TreeFam Gene Tree for MSX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MSX1 gene
    DLX22  BARX12  GBX12  NKX1-12  VENTX2  GBX22  BARHL12  BARHL22  
    MNX12  BARX22  DLX12  DLX32  LBX22  NKX1-22  BSX2  DLX52  
    DLX62  DLX42  LBX12  MSX22  
    14 SIMAP similar genes for MSX1 using alignment to 95 protein entries:     MSX1_HUMAN (see all proteins):
    MSX2    HMX2    DLX1    MNX1    HOXC13    NKX2-5
    DLX3    PITX2    DUX4    HOXB1    CDX1    DLX6
    NANOGP8    HOXA4

    MSX1 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 MSX1 (see all 241)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289330811,2,,4
    CNon-syndromic orofacial cleft 5 (OFC5)4 pathogenic14839751(+) GGGGGA/G/TACTCC 2 E G mis1 ese30--------
    VAR_0183914
    Non-syndromic orofacial cleft 5 (OFC5)4--see VAR_0183912 E V mis40--------
    VAR_0157124
    Tooth agenesis selective 1 (STHAG1)4--see VAR_0157122 M K mis40--------
    VAR_0183934
    Non-syndromic orofacial cleft 5 (OFC5)4--see VAR_0183932 V G mis40--------
    VAR_0183954
    Non-syndromic orofacial cleft 5 (OFC5)4--see VAR_0183952 R S mis40--------
    VAR_0037544
    Tooth agenesis selective 1 (STHAG1)4--see VAR_0037542 R P mis40--------
    VAR_0183924
    Non-syndromic orofacial cleft 5 (OFC5)4--see VAR_0183922 G D mis40--------
    rs289288901,2
    Cpathogenic14839637(+) CTCCGA/TGGGCG 2 E V mis1 ese30--------
    rs1048938521,2
    Cpathogenic14839718(+) CTCTTA/CGCCGC 2 * S stg10--------
    rs1048938541,2
    Cpathogenic14839844(+) CTCCCA/CGCCGC 2 Q P mis10--------

    HapMap Linkage Disequilibrium report for MSX1 (4861392 - 4865663 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MSX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34196OTHER Inversion12058347

    Human Gene Mutation Database (HGMD): MSX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MSX1
    DNA2.0 Custom Variant and Variant Library Synthesis for MSX1

    (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.)
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    OMIM gene information: 142983   
    OMIM disorders: 106600  608874  189500  
    UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360
  • Tooth agenesis selective 1 (STHAG1) [MIM:106600]: A form of selective tooth agenesis, a common anomaly
    characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated
    systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more
    permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not
    include absence of third molars (wisdom teeth). Tooth agenesis selective type 1 can be associated with orofacial
    cleft in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric
    deletions in the short arm of chromosome 4
  • Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: A form of ectodermal dysplasia, a heterogeneous
    group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails
    and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents
    a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to
    teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This
    condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little
    involvement of hair and sweat glands. The teeth are not as severely affected. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A birth defect consisting of cleft lips with or
    without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on
    one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip
    extending into the floor of the nostril and involving the upper gum. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for MSX1 (see all 40):    
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    orofacial cleft 5    tooth and nail syndrome    tooth agenesis, selective, 1    tooth agenesis
    tooth agenesis, selective, 1, with or without orofacial cleft    ectodermal dysplasia 3, witkop type    cleft lip    cleft palate
    ellis-van creveld syndrome    wolf-hirschhorn syndrome    orofacial cleft    bamforth-lazarus syndrome
    osteonecrosis    stickler syndrome    omphalocele    dentin dysplasia
    cleft lip +/- cleft palate    dentinogenesis imperfecta    amelogenesis imperfecta    synostosis

    8 diseases from the University of Copenhagen DISEASES database for MSX1:
    Tooth agenesis     Cleft palate     Cleft lip     Tooth and nail syndrome
    Synostosis     Dentin dysplasia     Dentinogenesis imperfecta     Polydactyly

    MSX1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for MSX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tooth agenesis, selective 94.5 4 8696335 (2), 14630905 (1), 9742121 (1)
    hypodontia 87.8 35 10861665 (4), 18788550 (3), 16682758 (3), 12733956 (2) (see all 16)
    cleft palate 72.1 8 12163415 (2), 9830770 (2), 15379328 (1), 18705505 (1) (see all 6)
    cleft lip 69 22 15379328 (3), 12733956 (2), 17557248 (2), 16868654 (2) (see all 11)
    parkinson disease 27.6 2 16439212 (2)
    cancer 4.82 2 19430199 (1), 15705871 (1)
    tumors 1.3 8 15705871 (3), 18854600 (1), 9369446 (1)

    Genetic Association Database (GAD): MSX1
    Human Genome Epidemiology (HuGE) Navigator: MSX1 (33 documents)

    Export disorders for MSX1 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 MSX1 gene, integrated from 10 sources (see all 206):
    (articles sorted by number of sources associating them with MSX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and sequence of the human homeobox gene HOX7. (PubMed id 1685479)1, 2, 3 Hewitt J.E.... Williamson R. (Genomics 1991)
    2. [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. (PubMed id 18705505)1, 4, 9 Zhang L....Liang S.Z. (Hua Xi Kou Qiang Yi Xue Za Zhi 2008)
    3. [Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate]. (PubMed id 17557248)1, 4, 9 Wu P.A....Wang K. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
    4. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. (PubMed id 16868654)1, 4, 9 Tongkobpetch S....Shotelersuk V. (J. Hum. Genet. 2006)
    5. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (PubMed id 8696335)1, 2, 9 Vastardis H.... Seidman C.E. (Nat. Genet. 1996)
    6. The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. (PubMed id 18932005)1, 4, 9 van den Boogaard M.J....Steegers-Theunissen R.P. (Hum. Genet. 2008)
    7. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. (PubMed id 11754469)1, 4, 9 Beaty T.H....McIntosh I. (Genet. Epidemiol. 2002)
    8. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. (PubMed id 12807959)1, 2, 9 Jezewski P.A.... Murray J.C. (J. Med. Genet. 2003)
    9. A nonsense mutation in MSX1 causes Witkop syndrome. (PubMed id 11369996)1, 2, 9 Jumlongras D.... Olsen B.R. (Am. J. Hum. Genet. 2001)
    10. Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate. (PubMed id 20635363)1, 4 Suazo J....Blanco R. (Am. J. Med. Genet. A 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4487 HGNC: 7391 AceView: MSX1 Ensembl:ENSG00000163132 euGenes: HUgn4487
    ECgene: MSX1 Kegg: 4487 H-InvDB: MSX1

    (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 MSX1 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 MSX1 gene:
    Search GeneIP for patents involving MSX1

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



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