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FLASH GENE
Symbol HOXA1 contributors: npt/mct/pgu - updated : 27-06-2017
HGNC name homeobox A1
HGNC id 5099
Corresponding disease
ABSD Athabaskan brainstem dysgenesis syndrome
Location 7p15.2      Physical location : 27.132.615 - 27.135.625
Synonym name
  • homeo box A1(1F)
  • lab-like protein
  • Hox 1.6-like protein
    • Synonym symbol(s) HOX1F, HOX1, HXA1, BSAS, MGC45232
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 3.04 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see HOXA@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 splicing 2140 36 335 - 1998 9463349
    3 splicing 2358 - 137 - 1998 9463349
    - splicing 2610 24 222 - 1998 9463349
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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