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FLASH GENE
Symbol HOXA13 contributors: mct - updated : 28-03-2016
HGNC name homeo box A13
HGNC id 5102
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal polyalanine stretch, N-terminal arm (residues 324 - 329) that binds in the DNA minor groove,
  • helix-turn-helix (three alpha helices)
  • DNA binding domain
  • a C-terminal helix (residues 362 - 382) that contacts the ATAA nucleotide sequence in the major groove
    • HOMOLOGY
    interspecies homolog to murine Hox-1.10 (hypodactyly)
    intraspecies homolog to HOXB13
    Homologene
    FAMILY abd-b homeobox proteins family
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • participating to a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
  • plays an essential role in placental labyrinth vessel formation
  • potential role for HOXA13 in the organization of the cells necessary to delineate individual carpal/tarsal elements
  • transcription factor protein that binds to AT-rich DNA sequences and controls expression of genes during embryonic morphogenesis
  • developmental strategy specific to placental mammals is linked, at least in part, to the recruitment of HOXA13 function in developing extra-embryonic tissues
  • HOXA10 and HOXA13 are involved in the development of human genitalia
  • pivotal role of HOXA13 and HOXD13 proteins in the transition from a proximal to a distal type of HOXD transcriptional regulation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text
  • morphogenesis
  • bone and genito-urinary tract development and maintenance
    • PATHWAY
    metabolism
    signaling
    a component
  • its dimerization is required to activate transcription of target genes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly regulates EPHA6 and EPHA7 in the developing GT (genital tubercle) and identifies the GT vascular endothelia as a novel site for HOXA13-dependent expression of EPHA6 and EPHA7)
  • directly regulates TEK and FOXF1 in the placental labyrinth endothelia
  • GDF5 is a potential target gene of HOXA13 target gene, which confirm a specific role for HOXA13 during appendicular skeletal development
  • ALDH1A2 is a direct target of HOXA13, and in the limb, HOXA13 binds a conserved cis-regulatory element in the ALDH1A2 locus that can be regulated by HOXA13 to promote gene expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HFG , GTMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in hypodactyly mutants
    tumoral fusion      
    fused with NUP98 int (7;11) (p15;p15) in acute myeloid leukemia
    constitutional       loss of function
    severely disrupts embryonic limb development
    Susceptibility
    Variant & Polymorphism repeat polyalanine repeat expansion associated with HFG
    Candidate gene
    Marker
  • is a negative independent predictor of disease-free survival of patients with esophageal squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS
  • defects in interdigital programmed cell death (IPCD) and digit separation in Hoxa13 mutant mice may be caused in part by reduced levels of retinoic acid
  • loss of Hoxa13 and Hoxd13 transcription factors (Hox13) leads to digit agenesis in mice