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FLASH GENE
Symbol PHC1 contributors: mct/npt - updated : 22-09-2016
HGNC name polyhomeotic homolog 1 (Drosophila)
HGNC id 3182
Corresponding disease
MCPH11 microcephaly 11, primary
Location 12p13.31      Physical location : 9.067.315 - 9.094.058
Synonym name
  • early development regulator 1 (homolog of polyhomeotic 1)
  • mouse Rae28-like
  • polyhomeotic-like 1 (Drosophila)
    • Synonym symbol(s) HPH1, RAE28, EDR1, PH1, Rae28-like
    DNA
    TYPE functioning gene
    STRUCTURE 26.80 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 5206 105.4 1004 - 2002 11901201
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Reproductivefemale systemovary   
     male systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two homology domains I, II with the Drosophila PcG protein polyhomeotic
    • mono polymer complex
    HOMOLOGY
    interspecies homolog to polymeotic
    Homologene
    FAMILY
  • polycomb group family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text colocolizing with BMI1, EDR2
    basic FUNCTION
  • can play a key role in organogenesis by helping to maintain the expression of a selector gene
  • functional overlap between PHC2 and PHC1 and a strict dose-dependent requirement during anterior-posterior (A-P) specification and embryonic survival
  • mediates recruiting SCMH1, which provides PcG complex 1 an interaction domain for Geminin (Ohtsubo 2008)
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with EDR2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EDR2
  • NKX2-5
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS