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FLASH GENE
Symbol PHF21A contributors: mct - updated : 26-06-2012
HGNC name PHD finger protein 21A
HGNC id 24156
Location 11p11.2      Physical location : 45.950.870 - 46.142.985
Synonym name
  • BRAF35/HDAC2 complex (80 kDa)
  • BRAF35-HDAC complex protein BHC80
    • Synonym symbol(s) BM-006, KIAA1696, BHC80, BHC80a
    DNA
    TYPE functioning gene
    STRUCTURE 192.12 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 7332 - 680 - 2004 15325272
    18 - 7194 - 634 - 2004 15325272
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas    
    Nervousbrain     Homo sapiens
    Reproductivefemale systemovary  highly
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • predominant expression of detected in the developing CNS at early stagesb
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two chromo-domains
  • a PHD zinc-finger domain
  • C-terminal PHD zinc-finger domain capable of binding directly to each of five other components of BHC, and of organizing BHC mediating transcriptional repression
    • HOMOLOGY
    interspecies homolog to Drosophila CG3911
    homolog to C.elegans ZK1098.5
    Homologene
    FAMILY snf2/rad54 helicase family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in repression of bithorax complex (bxc) genes by binding to a portion of hunchback (HB) protein
  • playing a role in polycomb group (pcg) repression of HOX genes
  • playing a role in the deacetylation of histones
  • mediating REST-dependent transcriptional repression of neuron-specific genes in non-neuronal cells
  • scaffold protein in BHC in neuronal as well as non-neuronal cells and may be playing a role in spermatogenesis
  • inhibits RCOR1/PHF21A-mediated demethylation and may therefore confer negative regulation
  • PHF21A and KDM1A depend reciprocally on one another to associate with chromatin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • component of the BRAF-histone deacetylase complex (BHC)BRAF/HDAC complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to HDAC1 and HDAC2
  • PHD finger of PHF21A binds unmethylated H3K4 (H3K4me0), and this interaction is specifically abrogated by methylation of H3K4
  • mediate REST repression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Bhc80-deficient mice showed no developmental defect in the neuronal and non-neuronal tissues, but is indispensable for the survival of neonatal pups