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FLASH GENE
Symbol MEOX1 contributors: mct/npt/pgu - updated : 15-02-2013
HGNC name mesenchyme homeobox 1
HGNC id 7013
Corresponding disease
KFS2 Klippel-Feil syndrome
Location 17q21.31      Physical location : 41.717.766 - 41.739.262
Synonym name mesenchyme homeo box 1
Synonym symbol(s) MOX1, MOX-1
DNA
TYPE functioning gene
STRUCTURE 21.51 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see BRCA1 BRCA1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 2330 - 254 - 1997 9373945
2 splicing 2150 - 184 - 1997 9373945
lacking exon 2
4 - 2184 - 139 - 1997 9373945
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text restricted exclusively to follicular cells in the innermost layer of the outer root sheath by 21 weeks of development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, homeobox DNA binding domain
  • HOMOLOGY
    interspecies ortholog to murine Meox1
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in mesoderm induction and its earliest regional specification, somitogenesis, and myogenic and sclerotomal differentiation
  • activating NKX3-2 (activates the NKX3-2 promoter in a dose-dependent manner and this activity is enhanced in the presence of PAX11 and/or PAX9)
  • required for NKX3-2 expression in the sclerotome
  • play role with GLI2 in the commitment of cells to the skeletal muscle lineage
  • part of a regulatory circuit that serves an essential, non-redundant function in the maintenance of rostro-caudal sclerotome polarity and axial skeleton formation
  • MEOX1 can specifically bind the DNA sequences recognized by HOXA2 on its functional target genes
  • MEOX1 and MEOX2 have been shown to be partially functionally redundant during development, suggesting that they regulate similar target genes
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • regulates the MEOX2 target genes CDKN1A and CDKN2A
  • cell & other
    REGULATION
    Other regulated by a regulatory loop between GLI2, MEOX1, and PAX3 that is essential for specification of mesodermal cells into the muscle lineage
    ASSOCIATED DISORDERS
    corresponding disease(s) KFS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS