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FLASH GENE
Symbol POLR1A contributors: SGE/npt - updated : 19-05-2015
HGNC name polymerase (RNA) 1 polypeptide A, 194kDa
HGNC id 17264
Corresponding disease
AFD3 acrofacial dysostosis 3, Cincinnati Type
Location 2p11.2      Physical location : 86.253.452 - 86.333.278
Synonym name
  • DNA-directed RNA polymerase I largest subunit
  • RNA polymerase I 194 kDa subunit
  • Synonym symbol(s) FLJ21915, RPO1-4, DKFZP586M0122, RPA1, RPA194, A190, MGC87965, RPO14
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 79.83 kb     34 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 6637 - 1720 - 1997 9236775
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Polr1a (87.1pc)
    homolog to rattus Polr1a (88.4pc)
    Homologene
    FAMILY
  • RNA polymerase beta chain family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • catalytic subunit with transferase activity
  • largest subunit of RNA polymerase I, which plays a key role in transcribing ribosomal RNA during the process of ribosome biogenesis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
  • component of the multisubunit complex of eukaryotic nuclear DNA directed RNA polymerase, producing rRNA, brought to ribosomal genes as a distinct subunit
  • INTERACTION
    DNA DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • Mg2+
  • protein
  • interacting with MYO1C
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AFD3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    compromises rDNA transcription, one of the rate-limiting steps in the process of ribosome biogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS