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Pold1 Gene Detail
Summary
  • Symbol
    Pold1
  • Name
    polymerase (DNA directed), delta 1, catalytic subunit
  • Synonyms
    125kDa
  • Feature Type
    protein coding gene
  • IDs
    MGI:97741
    NCBI Gene: 18971
  • Gene Overview
    MyGene.info: POLD1
Location & Maps
more
  • Sequence Map
    Chr7:44532746-44548849 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16104 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 28.83 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    POLD1, DNA polymerase delta 1, catalytic subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    POLD1, DNA polymerase delta 1, catalytic subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDC2, CRCS10, MDPL, POLD
  • Links
    NCBI Gene ID: 5424
    neXtProt AC: NX_P28340

  • Chr Location
    19q13.33; chr19:50384290-50418018 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human POLD1 associations

Human Disease Mouse Models
       Colorectal Cancer, Susceptibility to, 10; CRCS10   OMIM: 612591
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome; MDPL   OMIM: 615381
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 6 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    4 images
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene have an elevated mutation rate as well as an increased incidence of tumors. Median age for these mice is around 10 months.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028995 VEGA Gene Model | MGI Sequence Detail 16104 C57BL/6J ±  kb
transcript OTTMUST00000071903 VEGA | MGI Sequence Detail 3454 Not Applicable  
polypeptide OTTMUSP00000036922 VEGA | MGI Sequence Detail 1105 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    174 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012963 DNA polymerase delta catalytic subunit
  • EC
  • InterPro Domains
    IPR025687 C4-type zinc-finger of DNA polymerase delta
    IPR006172 DNA-directed DNA polymerase, family B
    IPR017964 DNA-directed DNA polymerase, family B, conserved site
    IPR006133 DNA-directed DNA polymerase, family B, exonuclease domain
    IPR006134 DNA-directed DNA polymerase, family B, multifunctional domain
    IPR023211 DNA polymerase, palm domain
    IPR012337 Ribonuclease H-like domain
Molecular
Reagents
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  • All nucleic 120
    Genomic 1
    cDNA 117
    Primer pair 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-13579
References
more
  • Summaries
    All 42
    Developmental Gene Expression 4
    Gene Ontology 8
    Phenotypes 15
  • Earliest
    J:16041 Cullmann G, et al., Cloning of a mouse cDNA encoding DNA polymerase delta: refinement of the homology boxes. Gene. 1993 Dec 8;134(2):191-200
  • Latest
    J:224514 Uchimura A, et al., Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice. Genome Res. 2015 Aug;25(8):1125-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory