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FLASH GENE
Symbol POLA1 contributors: mct/npt - updated : 11-06-2019
HGNC name polymerase (DNA directed), alpha 1, catalytic subunit
HGNC id 9173
Corresponding disease
MRXS36 mental retardation, X-linked, syndromic 36
PDRX pigmentary disorder, reticulate, with systemic manifestations, X-linked
Location Xp22.11      Physical location : 24.712.063 - 25.015.100
Synonym name
  • polymerase (DNA directed), alpha 1
  • polymerase (DNA-directed), alpha (70kD)
  • DNA-directed DNA polymerase alpha 1
  • Synonym symbol(s) DPOA, POLA, DKFZp686K1672, p180, NSX
    EC.number 2.7.7.7
    DNA
    TYPE functioning gene
    STRUCTURE 303.11 kb     37 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map see PRPS2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 5448 166 1462 - Warren (2009)
    37 - 5487 - 1465 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminus (residues 1–337) is predicted to be poorly folded and does not participate in primer synthesis
  • a minimal MCM10 binding site to a small region within the N-terminal domain (residues 286-310)(Warren 2009)
  • a lysine-rich region that can directly interact with RNA
  • HOMOLOGY
    interspecies homolog to murine Pola1
    Homologene
    FAMILY
  • DNA polymerase type b family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • polymerase activity (DNA directed), alpha
  • is a critical regulator of the type I interferon response
  • plays an important role in genome replication
  • p180 catalytic subunit of DNA polymerase alpha-primase
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • POLA is composed of a 180-kDa catalytic subunit (p180) and a 70-kDa B subunit (p70)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between MCM10 and POLA1 (Chattopadhyay 2007)
  • interacts with the large subunit of primase
  • WDHD1 interacts with MCM10, which associates with MCM2-7, and with the p180 subunit of POLA
  • cell & other
    REGULATION
    Other phosphorylatedby CDK2/Cyclin A (may result in a conformational change in POLA2 facilitating its interaction with and activation by hyperphosphorylated retinoblastoma protein (ppRb)) (Takemura 2006)
    ASSOCIATED DISORDERS
    corresponding disease(s) PDRX , MRXS36
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    can enhance the association of generic mRNAs with the ER
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS