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FLASH GENE
Symbol LBX1 contributors: mct - updated : 10-04-2013
HGNC name ladybird homeobox 1
HGNC id 16960
Location 10q24.32      Physical location : 102.986.733 - 102.988.717
Synonym name
  • transcription factor similar to D. melanogaster homeodomain protein lady bird late
  • ladybird homeobox homolog 1
    • Synonym symbol(s) LBX1H, HPX-6, HPX6
    DNA
    TYPE functioning gene
    STRUCTURE 1.98 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1287 - 281 - 2003 12522123
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Mus musculusAdult
    Nervousspinal cord   highly Homo sapiensAdult
     spinal cord   highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Mus musculusAdult
    Muscularstriatumskeletal   Mus musculusAdult
    Muscularstriatumskeletal highly Homo sapiensAdult
    Muscularstriatumskeletal highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Musculardifferentiated cell Mus musculusAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text cardiac neural crest cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one homeobox DNA-binding domain
    • HOMOLOGY
    interspecies ortholog to Drosophila lady bird
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in regulation of transcription
  • involved in specification of a subpopulation of cardiac neural crest subsequent to migration
  • transcription factor that determines neuronal cell fate and identity in the developing medulla and spinal cord
  • play a role in the migration of muscle progenitor cells in limb buds and also in neuronal determination processes
  • potential role in early myocardial development
  • function in neural and muscle development--roles conserved from Drosophila to vertebrates
  • may be implicated in the etiology of scoliosis through abnormal somatosensory function
  • plays an essential role in specifying postmitotic dorsal interneuron populations during late pattern formation in the neural tube
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with LBXCOR1 which acts as a transcriptional corepressor
  • directs expression of the known EMT inducers ZEB1, ZEB2, SNAI1, and transforming growth factor beta2 (TGFB2)
  • CHMP2B is likely one of the most highly regulated cell-autonomous targets of LBX1 in the embryonic neural tube
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer
    Susceptibility to adolescent idiopathic scoliosis
    Variant & Polymorphism SNP SNP rs11190870 associated with adolescent idiopathic scoliosis (PMID;
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Newborn Lbx1 mutant mice die of respiratory distress during the early postnatal period