Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol POLR1D contributors: npt/mct - updated : 05-07-2017
HGNC name polymerase (RNA) 1 polypeptide D, 16kDa
HGNC id 20422
Corresponding disease
TCSPD Treacher Collins syndrome, POLR1D related
Location 13q12.2      Physical location : 28.196.002 - 28.241.547
Synonym name
  • RNA polymerases I and III subunit AC2
  • DNA-directed RNA polymerase I subunit D
    • Synonym symbol(s) RPAC2, RPA16, RPO1-3, RPA9, MGC9850, FLJ20616, POLR1C, RPO1-3, RPA19
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 45.55 kb     3 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
    2 - 725 - 133 - Hu (2002)
    3 - 1977 - 122 - Hu (2002)
    EXPRESSION
    Type ubiquitous
    constitutive of
       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 yeasrAC40
    Homologene
    FAMILY
  • archaeal rpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • biosynthesis ot rRNA
  • may play a role for the kidney aging (Wheeler 2009)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
  • component of the multisubunit complex of eukaryotic nuclear RNA polymerase producing ribosomal RNA
  • binding to ribosomal genes in association with the C subunit
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein interacting with MAF1 (MAF1 is a major regulator of pol III and POLR1D transcription in human cells) (Reina 2006)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCSPD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS