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FLASH GENE
Symbol POLD1 contributors: mct - updated : 23-11-2013
HGNC name polymerase (DNA directed), delta 1, catalytic subunit 125kDa
HGNC id 9175
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a nuclear localization signal (NLS) in the N terminus
  • two zinc fingers in the C terminus
    • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Pold1
    homolog to C.elegans F10C2.4
    Homologene
    FAMILY DNA polymerase type B family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • also possessing an intrinsic proofreading function that reduces the levels of errors during replication
  • plays a central role in chromosomal DNA replication, repair, and recombination
  • WRN and POLD1, are involved in maintaining cellular genomic stability
  • plays an essential role in genome stability by virtue of its crucial DNA replication and repair capacity
  • important role for POLD1 function in adipose tissue homeostasis
    • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text nuclear genome
    PATHWAY
    metabolism
    signaling
    a component
  • catalytic subunit of DNA polymerase delta 1
  • heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa
    • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • WRN and POLD1 co-operate to maintain the fidelity of DNA transactions and, thus, genomic stability
    • cell & other
    REGULATION
    repressed by TP53
    ASSOCIATED DISORDERS
    corresponding disease(s) MDPL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in sporadic colorectal cancer
    constitutional     --low  
    mRNA expression of DNA POLD1 decreased substantially with age
    Susceptibility to colorectal adenomas and carcinomas
    Variant & Polymorphism other
  • POLD1 p.Ser478Asn, have high penetrance, and is associated with colorectal adenomas and carcinomas and endometrial cancer predisposition
    • Candidate gene
    Marker
  • DNA POLD1 has great potential for a new biomarker of aging
    • Therapy target
    ANIMAL & CELL MODELS