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FLASH GENE
Symbol POLR1C contributors: mct - updated : 05-07-2017
HGNC name polymerase(RNA)1 polypeptide C, 30kDa
HGNC id 20194
Corresponding disease
HLD11 hypomyelinating leukodystrophy-11
TCSPC Treacher Collins syndrome, POLR1C related
Location 6p21.1      Physical location : 43.484.790 - 43.497.114
Synonym name
  • DNA-directed RNA polymerase I subunit C
  • RNA polymerase I subunit
  • DNA-directed RNA polymerases I and III 40 kDa polypeptide
    • Synonym symbol(s) RPA5, RPA39, RPA40, RPA61, RPAC1, AC40, POLR1E, RPC40, RP3-337H4.4
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 45.38 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1138 - 342 - 2015 26151409
    9 - 1322 - 346 - 2015 26151409
    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 ortholog to yeast AC40
    Homologene
    FAMILY
  • archaeal rpoD/eukaryotic RPB3 RNA polymerase subunit family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • biosynthesis of rRNA
  • DNA-directed RNA polymerase
    • 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 ribosomal RNA brought to ribosomal genes in association with the D subunit
    • INTERACTION
    DNA DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCSPC , HLD11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS