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FLASH GENE
Symbol ALX3 contributors: mct/npt - updated : 27/10/2008
HGNC name aristaless-like homeobox 3
HGNC id 449
Corresponding disease
FND1 frontonasal dysplasia 1
Location 1p13.3      Physical location : 110.602.997 - 110.613.322
Synonym name proline-rich transcription factor
Synonym symbol(s) MGC138212, MGC141988
DNA
TYPE functioning gene
STRUCTURE 10.33 kb     4 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • promoter contains at least eight putative regulatory elements with an E-box consensus sequence, three of which were determined to be functional and required for Alx3 promoter activity
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1478 - 343 - Perez-Villamil (2004)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    Endocrinepancreasislet of Langerhans    Homo sapiens
    Nervousbrain   predominantly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousautonomous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text embryonic development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two proline-rich domains located amino-terminal to the homeodomain (PRO1 and PRO2) are necessary for ALX3-dependent transactivation
  • a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development
  • HOMOLOGY
    interspecies homolog to murine Alx3
    Homologene
    FAMILY
  • paired family of homeobox proteins
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional regulator with a possible role in patterning of mesoderm during development
  • participates in the regulation of insulin gene expression in pancreatic beta-cells
  • exhibits cell-specific and selective monomeric binding and transactivation
  • participates in the regulated expression of several islet genes, and its deficiency in mice leads to islet cell apoptosis and glucose intolerance
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PDX1 contributes to the transcriptional transactivation of ALX3 in pancreatic beta-cells by acting in co-ordination with USF1 and USF2 (pMID: 25040025)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FND1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by preferential methylation of the promoter, associated with advanced-stage neuroblastoma tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS