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

MSX1 Gene

protein-coding   GIFtS: 62
GCID: GC04P004861

msh homeobox 1

(Previous names: msh (Drosophila) homeo box homolog 1 (formerly homeo box...)
(Previous symbol: HOX7)
 Explore 35 diseases affiliated with
MSX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MSX1    

Aliases
for MSX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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
HYD11 2 5     ECTD32
Homeobox Protein Hox-72 3     Homeobox 72
Msh Homeobox 1-Like Protein2 3     Homeobox Protein MSX-12
OFC51 5     Msh Homeo Box 12
STHAG12 5     Msh Homeobox Homolog 12

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


Summaries
for MSX1 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 MSX1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences 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 plasmid: MSX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MSX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MSX1 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: MSX1_HUMAN, P28360 (See protein sequence)
Recommended Name: Homeobox protein MSX-1  
Size: 297 amino acids; 30940 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AAH21285.4; Type=Erroneous initiation;
Secondary accessions: Q96NY4

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

Post-translational modifications:

  • Sumoylated by PIAS1, desumoylated by SENP1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P28360

    • MSX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002439.2  
    ENSEMBL proteins: 
     ENSP00000372170   ENSP00000446928  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: MSX1
    OriGene Protein Over-expression Lysate: MSX1
    OriGene Custom Protein Services for MSX1 
    GenScript Custom Purified and Recombinant Proteins Services for MSX1
    Novus Biologicals MSX1 Protein
    Novus Biologicals MSX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MSX1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15705871
    GO:0005667transcription factor complex IEA--


    MSX1 for ontologies           About GeneDecksing



    MSX1 Antibody Products: 
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    Uscn Antibodies for MSX1
    ThermoFisher Antibodies for MSX1

    Assay Products for MSX1: 
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    GenScript Custom Assay Services for MSX1
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    Uscn ELISAs and CLIAs for MSX1

    Protein Domains /
    Families
    for MSX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MSX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P28360

    ProtoNet protein and cluster: P28360

    1 Blocks protein family: 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


    Function
    for MSX1 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MSX1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSX1
    8/22 QIAGEN miScript miRNA 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 plasmid: MSX1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSX1 (see all 7)
    OriGene shRNA RFP: MSX1
    OriGene siRNA: MSX1
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MSX1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MSX1 (NM_002448)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for MSX1
    Search LifeMap BioReagents cell lines for MSX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX1

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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:0002039p53 binding IPI15705871
    GO:0003677DNA binding ----
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    MSX1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Msx1tm1Rilm for MSX1
         15/16 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Msx1) (see all 16):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  respiratory system 

    MSX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MSX1 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    		Neuroscience1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    1 BioSystems Pathway for MSX1 
        Neural Crest Differentiation



    MSX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSX1

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

    5/31 Interacting proteins for MSX1 (P283603 ENSP000003721704) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    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): 5/45 biological process terms (GO ID links to tree view) (see all 45):    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



    Drugs & Compounds
    for MSX1 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

    MSX1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MSX1
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MSX1 

    Transcripts
    for MSX1 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 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:             		 OriGene 3'-UTR Clone: MSX1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSX1
    8/22 QIAGEN miScript miRNA 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 plasmid: MSX1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSX1 (see all 7)
    OriGene shRNA RFP: MSX1
    OriGene siRNA: MSX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSX1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSX1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MSX1 (see all 2)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MSX1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MSX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MSX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSX1

    Additional cDNA sequence: 

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

    5 DOTS entries:

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

    24/72 AceView cDNA sequences (see all 72):

    CD370820 BU624781 AU117561 AI089693 W35226 AW297381 BC067353 AI095600 
    BC021285 BF726560 AI634668 AI274476 AI087280 AI912103 BE272990 AA039806 
    AA032151 AI624653 BF116219 M97676 AI128101 AA443199 NM_002448 BF476501 

    GeneLoc Exon Structure


    Expression
    for MSX1 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

    MSX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCCTGCAT

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

    MSX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneFacial SuturesFacial Presumptive Suture CellsBone
    BoneFacial SuturesFacial Suture CellsBone
    BoneRostral SuturesRostral Presumptive Suture CellsBone
    BoneRostral SuturesRostral Suture CellsBone
    CartilageCervical Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageLumbar Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageSacral Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageThoracic Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Head MesenchymePrechordal MesenchymeDiencephalic Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Neurospheres (Generation of neuros...)
    Peripheral sensory neuron-like cells (Generation of neuros...)
    CPEC (Generation of choroi...)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

    See MSX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSX1

    SOURCE GeneReport for Unigene cluster: Hs.424414

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MSX1: 
              Prostate Cancer in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QIAGEN 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
    for MSX1 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 MSX1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MSX11 msh homeobox 1 80.19(n)
    83.99(a)    		   396484  NM_205488.2  NP_990819.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MSX16
    		 --
    		 69(a)
    		 1 ↔ 1
    		 GL343236.1(1021629-1027311)
    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
    for MSX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MSX1 gene
    DLX22  BARX12  BSX2  DLX52  DLX62  BARHL22  BARHL12  DLX42  
    BARX22  DLX12  MSX22  DLX32  
    18 SIMAP similar genes for MSX1 using alignment to 96 protein entries:     MSX1_HUMAN (see all proteins):
    MSX2    HMX2    DLX1    MNX1    NANOGP1    MEOX1
    NKX2-5    DLX3    PITX2    CDX2    DUX4    HOXB1
    CDX1    DLX6    PAX6    NANOGP8    HOXA4    CRX

    MSX1 for paralogs           About GeneDecksing



    Genomic Variants
    for MSX1 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

    10/364 NCBI SNPs in MSX1 are shown (see all 364)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 4 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289288901,2
    		Cpathogenic4861877(+) CTCCGA/TGGGCG 2 E V mis1 ese31Minor allele frequency- T:0.00NA 2
    rs1048938521,2
    		Cpathogenic4861958(+) CTCTTA/CGCCGC 2 * S stg10--------
    rs1048938541,2
    		Cpathogenic4862084(+) CTCCCA/CGCCGC 2 Q P mis10--------
    rs1048938501,2
    		Cpathogenic4864535(+) TCCGCC/TAGAAG 2 Q * stg10--------
    rs1048938531,2
    		Cpathogenic4864581(+) CAGCTA/CGCTCA 2 * S stg10--------
    rs1467456441,2
    		--4859396(+) GAAGA-/AGAAGG
                AGGAG     		1 -- us2k10--------
    rs771927461,2
    		C--4859408(+) AGGAGC/GAGGAG 1 -- us2k10--------
    rs777637361,2
    		C--4859413(+) GAGGAA/GGAGAT 1 -- us2k10--------
    rs1467626501,2
    		--4859418(+) GAGAT-/GAG   
      GAGGAG    GAGGA     		1 -- us2k10--------
    rs758740881,2
    		--4859436(+) AGGAAG/AAGGAG 1 -- us2k11Minor allele frequency- A:0.01NA 120

    HapMap Linkage Disequilibrium report for MSX1 (4861392 - 4865663 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MSX1: --
    Human Gene Mutation Database (HGMD): MSX1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MSX1 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
    MSX1 for disorders           About GeneDecksing

    OMIM gene information: 142983   
    OMIM disorders: 106600  189500  608874  
    UniProtKB/Swiss-Prot: MSX1_HUMAN, P28360
  • Defects in MSX1 are the cause of tooth agenesis selective type 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=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric
    • deletions in the short arm of chromosome 4
  • Defects in MSX1 are the cause of ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]. A form of
    • ectodermal dyslasia, 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
  • Defects in MSX1 are the cause of non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]; also called
    • non-syndromic cleft lip with or without cleft palate 5. Non-syndromic orofacial cleft is a common 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

    20/35 diseases for MSX1 (see all 35):    About MalaCards
    cleft lip    tooth agenesis, selective, 1, with or without orofacial cleft    cleft palate    tooth agenesis, selective, 1
    hypodontia    ellis-van creveld syndrome    bamforth-lazarus syndrome    tooth agenesis
    orofacial cleft    wolf-hirschhorn syndrome    cleft lip/palate    orofacial cleft 5
    amelogenesis imperfecta    dentinogenesis imperfecta    birth defects    dentin dysplasia
    tooth and nail syndrome    sleep apnea    ectodermal dysplasia    multiple system atrophy

    7 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

    7 Novoseek 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

    Publications
    for MSX1 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 MSX1 gene, integrated from 9 sources (see all 199):
    (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. (1991)
    2. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (PubMed id 8696335)1, 2, 9 Vastardis H.... Seidman C.E. (1996)
    3. 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. (2002)
    4. 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. (2003)
    5. A nonsense mutation in MSX1 causes Witkop syndrome. (PubMed id 11369996)1, 2, 9 Jumlongras D.... Olsen B.R. (2001)
    6. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. (PubMed id 12652527)1, 4 Jugessur A....Abyholm F. (2003)
    9. The role of MSX1 in human tooth agenesis. (PubMed id 12097313)1, 2 Lidral A.C. and Reising B.C. (2002)
    10. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. (PubMed id 11384957)1, 4 Mitchell L.E....Christensen K. (2001)

    External Searches for MSX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing MSX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4487 HGNC: 7391 AceView: MSX1 Ensembl:ENSG00000163132 euGenes: HUgn4487
    ECgene: MSX1 H-InvDB: MSX1

    Other Databases showing MSX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MSX1 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 MSX1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MSX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MSX1 gene:
    Search GeneIP for patents involving MSX1

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