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FLASH GENE
Symbol HORMAD1 contributors: mct - updated : 01-06-2018
HGNC name HORMA domain containing 1
HGNC id 25245
Location 1q21.3      Physical location : 150.670.541 - 150.693.352
Synonym name
  • HORMAD1 protein
  • cancer/testis antigen 46
  • newborn ovary HORMA protein
  • Synonym symbol(s) DKFZP434A1315, NOHMA, CT46, RP11-363I22.1
    DNA
    TYPE functioning gene
    STRUCTURE 22.85 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 1894 45.2 394 - 2010 20551173
    14 - 1877 - 387 - 2010 20551173
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta  moderately Homo sapiens
     male systemtestis  predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to to the prototype HORMA domain-containing protein, Hop1, a yeast meiosis-specific protein
    homolog to murine Hormad1 (79.9pc)
    intraspecies paralog to HORMAD2
    Homologene
    FAMILY HORMA domain family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text
  • accumulates on the chromosomes during the leptotene to zygotene stages of meiotic prophase I, and as germ cells progress into the pachytene stage, HORMAD1 disappears from the synapsed chromosomal regions
  • preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis
  • basic FUNCTION
  • may be a critical regulatory protein in germ cell meiosis
  • regulate interactions between homologous chromosomes (homologs) during meiosis in a wide range of eukaryotes
  • meiotic HORMA-domain proteins are required to direct double-strand breaks repair towards homologues
  • involvement of meiotic HORMA-domain proteins in the regulation of homologue interactions is conserved in mammals
  • critical component of the synaptonemal complex that affects synapsis, recombination, and meiotic sex chromosome inactivation and transcriptional silencing
  • promotes homologue alignment and synaptonemal-complex formation, and synaptonemal complexes downregulate HORMAD1 function, thereby permitting progression past meiotic prophase checkpoints
  • potential involvement of HORMAD1 in the repressive chromatin domain formation that is proposed to be important in the meiotic prophase checkpoints
  • is a critical component of the synaptonemal complex but not essential for oocyte survival
  • is one of the meiotic chromosome axis components
  • component of unsynapsed axes, HORMAD1, promotes DSB formation in unsynapsed regions where DSB formation must occur to ensure completion of synapsis
  • potential role for HORMAD1 in DNA repair pathway choice
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HORMAD1 binds a motif found both at its own C terminus and at that of HORMAD2, indicating that this mode of intermolecular association is a conserved feature of meiotic chromosome structure
  • is required for MEI4 localization
  • CCDC36 as a direct interactor of HORMAD1 (IHO1) that is essential for DSB formation
  • HORMAD1 recruits CCDC36 to unsynapsed axes
  • if CCDC36 mediates HORMAD1 function in DSB formation, then CCDC36 loss should also affect MEI4 complex assembly
  • TRIP13 regulates both MAD2L1 and meiotic HORMAD1, HORMAD2 by disassembling these HORMA domain-closure motif complexes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Hormad1-deficient mice are infertile and show an extensive failure of homologous pairing and synapsis, consistent with the evolutionarily conserved function of meiotic HORMA domain proteins