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FLASH GENE
Symbol HOXA1 contributors: npt/mct/pgu - updated : 27-06-2017
HGNC name homeobox A1
HGNC id 5099
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, DNA binding domain
    • HOMOLOGY
    interspecies homolog to murine Hox-1.6
    homolog to Drosophila 1ab
    Homologene
    FAMILY
  • ANTP homeobox family
  • labial subfamily
    • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text expressed in cranial and nerve structure only
    basic FUNCTION
  • play important roles in patterning segmental units (rhombomeres)
  • play important roles in patterning segmental units (rhombomeres)involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development
  • necessary for the proper development of the brainstem, inner ear and heart
  • acts in a genetic cascade upstream of genes controlling specific aspects of embryonic development, thereby providing insight into possible mechanisms underlying the HoxA1-syndrome (ABSD)
  • HOXA1 displays an unexpectedly long half-life and PRDM14 can reduce the stability and affect the transcriptional activity of HOXA1
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NR2F1 is involved in the regulatory modulation of the expression of at least two genes, CYP26A1 and HOXA1
  • HOXA1 binds RBCK1 and TRAF2 and modulates the TNF/NFKB1 pathway in a transcription-independent manner
  • PRDM14 is an interactor of HOXA1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ABSD
    Susceptibility
  • to autism, with incraesed head growth rates
  • to smaller cerebellar volume in healthy humans
    • Variant & Polymorphism other
  • G218 allele associated to increased head growth rates in autism
  • A218G polymorphism is associated with smaller cerebellar volume in healthy humans
    • Candidate gene DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
    Marker
    Therapy target
    ANIMAL & CELL MODELS