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Symbol MSX1 contributors: mct/npt/pgu - updated : 27-09-2014
HGNC name msh homeobox 1
HGNC id 7391
Corresponding disease
FTA1 familial tooth agenesis, oligodontia 1
OFC5 orofacial cleft 5
Location 4p16.2      Physical location : 4.861.391 - 4.865.658
Synonym name
  • homeobox 7
  • muscle-segment homeobox
  • msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)
  • Synonym symbol(s) HOX7, HYD1, FTA, STHAG1
    TYPE functioning gene
    STRUCTURE 4.27 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    text structure
  • MSX1 antisense has a TATA box
  • MSX1 sense has CAAT box and HTF/CpG box
  • a putative FOXE1 consensus site in its promoter region
  • MAPPING cloned Y linked Y status confirmed
    Physical map
    HGFAC 4p16.3 HGF activator FLJ33718 4p16.3 hypothetical protein FLJ33718 LOC391612 4 similar to hypothetical protein MGC45871 LRPAP1 4p16.3 low density lipoprotein receptor-related protein associated protein 1 FLJ35424 4p16.3 hypothetical protein FLJ35424 ADRA2C 4p16.3-p15 adrenergic, alpha-2C-, receptor LOC391613 4 similar to mannosyltransferase LOC196483 LOC391614 4 similar to Alkaline sphingomyelinase LOC391615 4 similar to 40S RIBOSOMAL PROTEIN S3A (V-FOS TRANSFORMATION EFFECTOR PROTEIN) LOC391616 4 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 OR7E43P 4p16.1 olfactory receptor, family 7, subfamily E, member 43 pseudogene OTOP1 4p16.2 otopetrin 1 MGC13159 4p16.2 hypothetical protein MGC13159 LYAR 4p16.2 hypothetical protein FLJ20425 ZNF509 4p16.2 zinc finger protein 509 D4S234E 4p16.3 DNA segment on chromosome 4 (unique) 234 expressed sequence STX18 4p16.2 syntaxin 18 MSX1 4p16.3-p16.1 msh homeo box homolog 1 (Drosophila) LDHAL1 4p16.3-p15.3 lactate dehydrogenase A-like 1 LOC132870 4p16.2 hypothetical gene LOC132870 C17 4p16-p15 hypothetical gene LOC132870 HSA250839 4p16.2 gene for serine/threonine protein kinase C4orf6 4p16 chromosome 4 open reading frame 6 EVC2 4p16.2-p16.1 Ellis van Creveld syndrome 2 (limbin) EVC 4p16 Ellis van Creveld syndrome CRMP1 4p16.1-p15 collapsin response mediator protein 1 LOC389197 4 hypothetical gene supported by BX648674 FLJ31564 LOC389198 4 LOC389198 WFS1 4p16.1 Wolfram syndrome 1 (wolframin) PPP2R2C 4p16.1 protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform
    TRANSCRIPTS type messenger
    text expression of two RNA (one sense and other antisense)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1940 - 303 - 2007 18177186
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   moderately
    Lymphoid/Immunespleen   moderately
    Reproductivefemale systemplacenta  moderately
     female systemuterus  predominantly
     female systemovary  moderately
     male systemprostate  highly
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Urinarykidney   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text highly in dental mesenchyme during critical bud stage
  • in the epidermis, hair follicles, and fibroblasts of the developing fetal skin
  • helix-turn-helix, DNA binding domain
    interspecies homolog to Drosophila muscle segment (msh) 1
    homolog to C.elegans R07B1.1
    ortholog to rattus Msx1
    ortholog to murine Msx1
    intraspecies homolog to MSX2
  • homeodomain family of DNA binding domain family (meta HOX)
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • inhibiting MYOD1 expression
  • involved in epithelial-mesenchymal signaling in many organs, playing a role in limb-pattern formation
  • potential repressor function in cell cycle progression
  • RNA polymerase 2 transcription factor, involved in skeletal development
  • acting as a transcriptional repressor
  • strongly up-regulated the Delta-Notch pathway genes DLK1, NOTCH3, and HEY1
  • MSX1, MSX2 have a dual role in calvarial development
  • MSX1 and TGFB3 signaling is crucial for proper differentiation and morphogenesis of neural crest-derived cells in eye structures
  • homeodomain transcription factor that play a crucial role in limb development
  • mesenchymal expression of MSX1 and MSX2 is required for proper SHH and BMP4 signaling to specify digit number and identity
  • MSX1 and MSX2 promote meiosis initiation
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    text embryonic, skeletal development and maintenance histogenesis and organogenesis
    a component
    small molecule
  • MSX2 in mouse limb bud patterning
  • HIST1H1B for inhibition of transcription and myogenesis
  • interaction with PIAS1, but not its sumoylation, is required for MSX1 to function as an inhibitor of myoblast differentiation through repression of myogenic regulatory genes, such as MYOD
  • interaction with PAX9 (MSX1 may serve as a modulator of the PAX9 transcription factor activity, fine-tuning BMP4 expression, and regulating its own expression in a feedback loop)
  • downstream target of PHOX2B that activates the Delta-Notch pathway in neuroblastoma
  • interacting with DLX5 (MSX1/DLX5 interaction is crucial for osteogenic induction during frontal bone development)
  • interacting with FOXE1 (role of FOXE1 in controlling the expression of MSX1 and TGFB3 relevant in craniofacial development)
  • interacting with OSR2 (OSR2 acts downstream of PAX9 and patterns the mesenchymal odontogenic field through protein-protein interactions with MSX1 and PAX9 during early tooth development)
  • MSX1 binds the DKK1 promoter and inhibits DKK1 transcription
  • BMP4 signaling suppresses tooth developmental inhibitors in the tooth mesenchyme, including DKK2 and OSR2, and synergizes with MSX1 to activate mesenchymal odontogenic potential for tooth morphogenesis and sequential tooth formation
  • direct regulatory connection between the neural plate border genes, PAX7 and MSX1/2, and FOXD3, suggesting it is an immediate downstream target
  • cell & other
    corresponding disease(s) FTA1 , OFC5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Wolf-Hirschhorn syndrome, cleft lip and palate
    constitutional       loss of function
    inactivation of its repressive activity may be one cause of Wormian bones, ectopic bones that are a feature of a variety of pathological conditions in which calvarial bone development is compromised
    Susceptibility to nonsyndromic orofacial clefts
    Variant & Polymorphism other allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts
    Candidate gene
    Therapy target
  • Msx1 knck-out mouse
  • Msx1;Msx2 double mutants are characterized by the loss of derivatives of the anterior limb mesoderm which is not observed in either of the simple mutants