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FLASH GENE
Symbol LBX1 contributors: mct - updated : 10-04-2013
HGNC name ladybird homeobox 1
HGNC id 16960
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