Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HOXA13 contributors: mct - updated : 28-03-2014
HGNC name homeo box A13
HGNC id 5102
Corresponding disease
GTMS Guttmacher syndrome
HFG hand-foot-genital syndrome
Location 7p15.2      Physical location : 27.236.498 - 27.239.725
Synonym name
  • homeo box A13(1J)
  • transcription factor HOXA13
  • homeobox protein Hox-1J
  • Synonym symbol(s) HOX1J, HOX1, HXAD, PDPPH
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 3.23 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see HOXA@
    Physical map
    LOC392006 7 similar to Rpl7a protein SND1 7q31.3 similar to Rpl7a protein LOC346416 7p15.2 similar to High mobility group protein 4 (HMG-4) (High mobility group protein 2a) (HMG-2a) LOC221875 7p15.2 similar to tropomyosin 3 LOC392007 7 similar to nucleolar protein family A, member 2; component of the H/ACA snoRNP HOXA1 7p15.3 homeo box A1 HOXA2 7p15.3 homeo box A2 HOXA3 7p15.3 homeo box A3 LOC392647 7 similar to mKIAA0038 protein LOC392879 7 similar to protease (prosome, macropain) 26S subunit, ATPase 1 HOXA4 7p15.3 homeo box A4 HOXA5 7p15.3 homeo box A5 HOXA6 7p15.3 homeo box A6 LOC392880 7 similar to hypothetical protein MGC2574 HOXA7 7p15.3 homeo box A7 HOXA9 7p15.3 homeo box A9 HOXA10 7p15.3 homeo box A10 HIBADH 7p15.2 3-hydroxyisobutyrate dehydrogenase HOXA11 7p15.3 homeo box A11 HOXA11S 7p15.2 homeo box A11, antisense HOXA13 7p15.3 homeo box A13 EVX1 7p15-p14 eve, even-skipped homeo box homolog 1 (Drosophila) LOC392008 7 similar to 60S ribosomal protein L35 NSG-X 7q31 brain and nasopharyngeal carcinoma susceptibility protein LRRC4 7q31 leucine rich repeat containing 4
    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
  • 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