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FLASH GENE
Symbol POLR1A contributors: SGE/npt - updated : 21-06-2023
HGNC name polymerase (RNA) 1 polypeptide A, 194kDa
HGNC id 17264
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,chromatin/chromosome
    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
  • role of PILR1A in craniofacial development, and requirements for POLR1A in cardiac and neural development
  • 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 , NDCFL , ACCAL
    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
    constitutional germinal mutation      
    causes leukodystrophy, affecting protein homeostasis 4)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS