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FLASH GENE
Symbol MKX contributors: mct - updated : 16-01-2018
HGNC name mohawk homeobox
HGNC id 23729
Location 10p12.1      Physical location : 27.961.803 - 28.034.778
Synonym name
  • chromosome 10 open reading frame 48
  • iroquois homeobox protein-like 1
  • Iroquois family related homeodomain protein
  • Synonym symbol(s) MGC39616, C10orf48, IRXL1, IFRX
    DNA
    TYPE functioning gene
    STRUCTURE 72.98 kb     7 Exon(s)
    regulatory sequence Promoter
    text structure
  • MKX promoter region containing several upstream transcription factors that regulate MKX, general transcription factor II-I repeat domain-containing protein 1 (GTF2IRD1) that is expressed in the cytoplasm of unstressed tenocytes translocated into the nucleus upon mechanical stretching to activate the MKX promoter through chromatin regulation
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3658 39.2 352 - 2010 20696843
    7 - 3655 39.2 352 - 2010 20696843
    EXPRESSION
    Rna function mRNA exhibited dynamic expression patterns during development of the palate, somite, kidney, and testis (Liu 2010)
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone    Homo sapiensFetal
    Connectivecartilage    Homo sapiensFetal
    Connectivedensetendon   Homo sapiensFetal
    Muscularstriatumskeletal   Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text expressed in developing tendons (Ito 2010)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an homeodomain
  • HOMOLOGY
    interspecies homolog to murine Mkx (88.9pc)
    Homologene
    FAMILY
  • TALE/IRO homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be involved in transcription regulation
  • may have a role in embryonic development
  • atypical homeodomain-containing protein with transcriptional repressor activity (Liu 2010)
  • important regulator of vertebrate development (Anderson 2006)
  • important regulator of tendon development (Liu 2010)
  • plays a critical role in tendon differentiation by regulating type I collagen production in tendon cells (Ito 2010)
  • is a potent transcriptional repressor expressed in the embryonic precursors of skeletal muscle, cartilage, and bone
  • role for MKX in promoting slow fiber type specification during skeletal muscle differentiation
  • is capable of regulating its own promoter and this regulation is dependent upon amino acids within the homeodomain
  • role for MKX in the regulation of fiber type specificity during skeletal muscle differentiation
  • appears necessary to maintain the tissue-specific cellular differentiation status and ECM production in adult tendons and ligaments
  • is a key factor for tenogenic differentiation of MSCs (mesenchymal stem cells)
  • is an important regulator of tenogenic differentiation
  • roles of MKX in tendinopathy, tenogenesis, and tendon repair as well as in regulating the TGFB1 pathway
  • tendon-specific transcription factor, is essential in mechanoresponsive tenogenesis through regulation of its downstream extracellular matrix (ECM) genes such as type I collagens and proteoglycans such as fibromodulin
  • key transcription factor that regulates annulus fibrosus (AF) of intervertebral discs development, maintenance and regeneration
  • tendon-specific transcription factor, regulating periodontal ligament (PDL) homeostasis by preventing its degeneration
  • MKX prevents PDL degeneration by regulating osteogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • member of the TALE superclass of atypical homeobox genes that is most-closely related to the Iroquois class (Anderson 2006)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binds DNA in a sequence-specific manner (Palmer 2010)
  • MKX regulating the transcription of MYH7 through repression of SOX6 which predicts a role in fiber type specificity
  • SMAD3 has the ability to physically interact with the critical transcriptional regulators SCX and MKX
  • GTF2IRD1 is essential for MKX transcription, while also linking mechanical forces to MKX-mediated tendon homeostasis and regeneration
  • WNT/CTNNB1 decreased MKX and TNMD expressions without suppressing SCX expression in SCX-programmed tendon progenitors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    dramatically lower in tendinopathy tissue and it is activated at specific stages of tendon development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mkx(-/-) mice survive postnatally and exhibit a unique wavy tail phenotype, and the tendons of Mkx(-/-) embryos expressed significantly reduced amounts of Collagen I, fibromodulin, and tenomodulin, in comparison with control littermates (Liu 2010)