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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
Corresponding disease
ACCAL ataxia, cerebellar and cerebral atrophy, and leukodystrophy
AFD3 acrofacial dysostosis 3, Cincinnati Type
NDCFL neurodevelopmental abnormalities and structural cardiac defects, with craniofacial anomalies and variable limb defects
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) FLJ10750, 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,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