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FLASH GENE
Symbol POLR3A contributors: mct/shn - updated : 14-01-2019
HGNC name polymerase (RNA) III (DNA directed) polypeptide A
HGNC id 30074
Corresponding disease
HLD7 leukodystrophy, hypomyelinating, 7
NPROS neonatal progeroid syndrome
Location 10q22.3      Physical location : 79.734.907 - 79.789.298
Genatlas name polymerase (RNA) III (DNA derived)
Synonym name
  • DNA-directed RNA polymerase III largest subunit
  • DNA-directed RNA polymerase III subunit A
  • DNA-directed RNA polymerase III subunit RPC1
  • RNA polymerase III 155 kDa subunit
  • RNA polymerase III subunit C1
  • RNA polymerase III subunit C160
  • RNA polymerase III subunit RPC155-D
    • Synonym symbol(s) RPC1, RPC155, ADDH, HLD7, hRPC155
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 54.92 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D10S206 - D10S569 - POLR3A - D10S607 - D10S1704- qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 6610 155 1390 - 2018 30450527
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Polr3a, Mus musculus
    ortholog to Polr3a, Rattus norvegicus
    ortholog to polr3a, Danio rerio
    ortholog to POLR3A, Pan troglodytes
    Homologene
    FAMILY RNA polymerase beta chain family
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • catalyzing the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates
  • has likely critical functions in human development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • plakophilin 2
    • cell & other
    REGULATION
    Other regulated by DNMT1 and DNMT3a
    ASSOCIATED DISORDERS
    corresponding disease(s) HLD7 , NPROS
    Susceptibility to severe Varicella zoster virus (VZV) disease
    Variant & Polymorphism other
  • monogenic or digenic POLR3C deficiencies confer increased susceptibility to severe VZV disease in otherwise healthy children
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS