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FLASH GENE
Symbol HOXA13 contributors: mct - updated : 28-03-2014
HGNC name homeo box A13
HGNC id 5102
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2514 - 388 - Williams (2005)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland   highly
Reproductivemale systemprostate  moderately
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
Text the developing lower genitourinary tract (seminal vesicle and prostate )development and distal limbs
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