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FLASH GENE
Symbol IRX3 contributors: mct/pgu - updated : 25-03-2015
HGNC name iroquois homeobox 3
HGNC id 14360
Location 16q12.2      Physical location : 54.317.211 - 54.320.378
Synonym name
  • iroquois homeobox protein 3
  • iroquois-class homeodomain protein IRX-3
  • homeodomain protein IRXB1
  • Synonym symbol(s) IRX-1, FLJ99187, IRXB1
    DNA
    TYPE functioning gene
    STRUCTURE 3.17 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located close to IRX5 and IRX6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2308 - 501 - 1998 9427753
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrain    Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, neonatal
    Text
  • restricted to the somatic cell component of XX gonads and is present at a discreet period of ovarian development that ends abruptly at birth
  • highly expressed in the developing and mature His–Purkinje network
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an acidic activation domain, suggesting that they may function as transcriptional activator
  • a hexapeptide-like motif
  • a conserved DNA-binding homeodomain of the 3-AA loop extension superclass and characterized by an 11-AA Iro motif
  • HOMOLOGY
    interspecies homolog to murine Irx3
    homolog to C.elegans C08c3.3
    Homologene
    FAMILY
  • TALE/IRO homeobox family
  • CATEGORY structural protein , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • having functions in the specification of a neural precursor state
  • essential role in spinal cord development
  • acts as a master regulator of intermediate tubule fate
  • first gene known to be necessary and sufficient to specify nephron segment fate
  • with IRX1, are required for proper formation of the intermediate renal tubule
  • critical role in the precise regulation of intercellular gap junction coupling and impulse propagation in the heart
  • required for normal ventricular activation
  • unique transcriptional regulator of rapid electrical conduction that is necessary to drive ventricular activation
  • important for certain postnatal cardiac functions, the rapid ventricular conduction
  • IRX3 functions as a transcriptional repressor in mediating thalamic competence and antagonizing this repressor function impaired thalamic specification
  • IRX3 and IRX5 can work together to regulate mineralization of specific cranial bones
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly represses GJA1 transcription and indirectly activates GJA5 transcription
  • likely regulates GJA5 indirectly, activating GJA5 expression by suppressing the transcription of a GJA5 repressor
  • complex genetic interactions between IRX3 and IRX5 in embryonic cardiac development and postnatal physiology
  • thalamus induction and patterning depends both on a prepattern of IRX3 and PAX6 expression that establishes differential cellular competence and on SHH signaling from the zona limitans intrathalamica (ZLI)organizer
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in androgen-insensitive prostate cancer cell lines
    constitutional     --low  
    resulted in disruption of the rapid coordinated spread of ventricular excitation, reduced levels of GJA5, and ectopic GJA1 expression in the proximal bundle branches
    Susceptibility to both obesity and type 2 diabetes
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • abnormal ventricular activation phenotype in the Irx3-null mice is characterized by right bundle branch block