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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
Corresponding disease
MDPL mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Location 19q13.33      Physical location : 50.887.592 - 50.921.270
Synonym symbol(s) POLD, CDC2, CRCS10, MDPL
EC.number 2.7.7.7
DNA
TYPE functioning gene
STRUCTURE 33.74 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site
text structure
  • Y-box sequence 5' - CTGATTGG - 3' in its cis-regulatory elements
  • a GC-rich promoter region
  • multiple transcription start sites
  • two 11 bp direct repeat
  • Sp1 binding sites
  • a novel element in the POLD1 promoter known as a CDE(cell cycle-dependent element)/CHR(cell cycle gene homology region) element, an active functional element in the POLD1 promoter, which is important for the cell cycle regulation of the POLD1 gene
  • MAPPING cloned Y linked   status confirmed
    Physical map
    AP2A1 19q13.3 adaptor-related protein complex 2, alpha 1 subunit FLJ22688 19q13.33 hypothetical protein FLJ22688 TCBAP0758 19q13.3 hypothetical protein TCBAP0758 PTOV1 19q13.33 prostate tumor over expressed gene 1 PNKP 19q13.3-q13.4 polynucleotide kinase 3'-phosphatase MGC2865 19q13.33 hypothetical protein MGC2865 FLJ12168 IL4I1 19q13.3-q13.4 interleukin 4 induced 1 NUP62 19q13.33 nucleoporin 62kDa ATF5 19q13.3 activating transcription factor 5 SIGLEC11 19q13.33 sialic acid binding Ig-like lectin 11 VRK3 19q13 vaccinia related kinase 3 ZNF473 19q13.33 zinc finger protein 473 LOC342917 19q13.33 similar to kruppel-related zinc finger protein MGC33947 19q13.33 hypothetical protein MGC33947 MYH14 19q13.33 myosin, heavy polypeptide 14 KCNC3 19q13.3 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1L 19q13.33 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1 19q13.33 pronapsin A NR1H2 19q13.3 nuclear receptor subfamily 1, group H, member 2 POLD1 19q13.3 polymerase (DNA directed), delta 1, catalytic subunit 125kDa SPIB 19q13.3 Spi-B transcription factor (Spi-1/PU.1 related) MYBPC2 19q13.3 myosin binding protein C, fast type LOC284361 19q13.33-q13.41 hypothetical protein LOC284361 SBBI54 19q13.41 hypothetical transmembrane protein SBBI54 LOC284363 19q13.41 similar to RIKEN cDNA 0610012D14 DKFZp761A179 SYT3 19q13.4 synaptotagmin III LOC342918 19q13.41 hypothetical LOC342918 SHANK1 19q13.3 SH3 and multiple ankyrin repeat domains 1 SCGF 19q13.3 stem cell growth factor; lymphocyte secreted C-type lectin GPR32P 19q13.3 G protein-coupled receptor 32, pseudogene GPR32 19q13.3 G protein-coupled receptor 32 ACPT 19q13.4 acid phosphatase, testicular MGC13170 19q13.41 multidrug resistance-related protein MGC45922 19q13.41 hypothetical gene MGC45922 KLK1 19q13.4 kallikrein 1, renal/pancreas/salivary KLK15 19q13.4 kallikrein 1, renal/pancreas/salivary KLK3 19q13.3 kallikrein 3, (prostate specific antigen)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3467 - 1107 - 2001 11375983
    27 - 3464 - 1107 - 2001 11375983
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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