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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
Location 9q33.3      Physical location : 128.509.616 - 128.729.653
Synonym name
  • pre-B-cell leukemia transcription factor 3
  • homeobox protein PBX3
  • DNA
    TYPE functioning gene
    STRUCTURE 219.99 kb     9 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
    9 - 2911 - 434 - Monica (1991), Milech (2001)
    - splicing 1190 - - - Milech (2001)
    lack exon 7
    - splicing 1190 - 277 ubiquitous Milech (2001)
    exon 1-2 and 4 to 9
  • interaction with MEIS1 not PREP1
  • - splicing 950 - 194 ubiquitous Milech (2001)
  • exon 1-2-4 to 6 and 9
  • interaction with MEIS1 not PREP1
  • 9 - 2825 - 359 - Monica (1991)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveboneperiosteum predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast
    cell lineage highly expressed in proliferating chondrocytes but is lost as chondrocytes become hypertrophic during endochondral ossification (Di Giacomo 2006)
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • preferentially expressed in distinct cell populations in the developing striatum (Kaoru 2010)
  • in the developing central nervous system (CNS), including a region of the medulla oblongata (Di Giacomo 2006)
  • highly expressed in proliferating chondrocytes but is lost as chondrocytes become hypertrophic during endochondral ossification (Di Giacomo 2006)
  • expressed only in the forelimb buds during early limb development (Di Giacomo 2006)
  • 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)