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FLASH GENE
Symbol PBX3 contributors: mct/npt - updated : 17-03-2010
HGNC name pre-B-cell leukemia homeobox 3
HGNC id 8634
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, DNA binding domain
  • an atypical homeo domain, three AA loop extension between helices
    • HOMOLOGY
    interspecies homolog to murine Pbx3
    intraspecies homolog to PBX1
    Homologene
    FAMILY
  • TALE/PBX homeobox family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional activator
  • essential for respiration and, like its DNA-binding partner TLX3, is critical for proper development of medullary respiratory control mechanisms (Rhee 2004)
  • in combination with FOXP2 and MEIS2, may play a pivotal role in the development of striosomal neurons of the striatum and the islands of Calleja (Takahashi 2008)
  • critical for the function of hindbrain circuits controlling respiration in mammals, and may play in neural development and function (Rottkamp 2008)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding (atypical homeodomain)
  • binding cooperatively with the heterodimer E2A/myogenic transcription factors
    • RNA
    small molecule
    protein
  • PREP1
  • MEIS1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to PBX1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves (Stankunas 2008)
    constitutional       loss of function
    leads to the incorrect specification of some glutamatergic neurons in the dorsal horn and alters the integration of peripheral sensation into the spinal circuitry regulating locomotion (Rottkamp 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Pbx3-deficient mice develop to term but die within a few hours of birth from central respiratory failure due to abnormal activity of inspiratory neurons in the medulla (Rhee 2004)