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Aliases for POLD1 Gene

Aliases for POLD1 Gene

  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit 2 3
  • DNA Polymerase Subunit Delta P125 3 4
  • EC 2.7.7.7 4 64
  • CRCS10 3 6
  • POLD 3 4
  • MDPL 3 6
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD) 2
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit 125kDa 3
  • DNA Polymerase Delta Catalytic Subunit 3
  • CDC2 Homolog (S. Cerevisiae) 2
  • CDC2 Homolog 3
  • CDC2 3

External Ids for POLD1 Gene

Previous Symbols for POLD1 Gene

  • POLD

Summaries for POLD1 Gene

Entrez Gene Summary for POLD1 Gene

  • This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

GeneCards Summary for POLD1 Gene

POLD1 (Polymerase (DNA Directed), Delta 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLD1 include mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and colorectal cancer 10. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include chromatin binding and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for POLD1 Gene

  • Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3- to 5-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex

Tocris Summary for POLD1 Gene

  • Cdks (cyclin-dependent kinases) are heteromeric serine/threonine kinases that control progression through the cell cycle in concert with their regulatory subunits, the cyclins. Although there are 12 different cdk genes, only 5 have been shown to directly drive the cell cycle (Cdk1, -2, -3, -4, and -6). Following extracellular mitogenic stimuli, cyclin D gene expression is upregulated. Cdk4 forms a complex with cyclin D and phosphorylates Rb protein, leading to liberation of the transcription factor E2F. E2F induces transcription of genes including cyclins A and E, DNA polymerase and thymidine kinase. Cdk4-cyclin E complexes form and initiate G1/S transition. Subsequently, Cdk1-cyclin B complexes form and induce G2/M phase transition. Cdk1-cyclin B activation induces the breakdown of the nuclear envelope and the initiation of mitosis. Cdks are constitutively expressed and are regulated by several kinases and phosphastases, including Wee1, CDK-activating kinase and Cdc25 phosphatase. In addition, cyclin expression is induced by molecular signals at specific points of the cell cycle, leading to activation of Cdks. Tight control of Cdks is essential as misregulation can induce unscheduled proliferation, and genomic and chromosomal instability. Cdk4 has been shown to be mutated in some types of cancer, whilst a chromosomal rearrangement can lead to Cdk6 overexpression in lymphoma, leukemia and melanoma. Cdks are currently under investigation as potential targets for antineoplastic therapy, but as Cdks are essential for driving each cell cycle phase, therapeutic strategies that block Cdk activity are unlikely to selectively target tumor cells.

Gene Wiki entry for POLD1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLD1 Gene

Genomics for POLD1 Gene

Genomic Location for POLD1 Gene

Start:
50,384,204 bp from pter
End:
50,418,018 bp from pter
Size:
33,815 bases
Orientation:
Plus strand

Genomic View for POLD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLD1 Gene

Regulatory Elements for POLD1 Gene

Proteins for POLD1 Gene

  • Protein details for POLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28340-DPOD1_HUMAN
    Recommended name:
    DNA polymerase delta catalytic subunit
    Protein Accession:
    P28340
    Secondary Accessions:
    • Q8NER3
    • Q96H98

    Protein attributes for POLD1 Gene

    Size:
    1107 amino acids
    Molecular mass:
    123631 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • Interacts with PCNA (PubMed:16510448, PubMed:24939902). Heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa. The 125 kDa subunit contains the polymerase active site and most likely the active site for the 3-5 exonuclease activity. Interacts with WRNIP1 (PubMed:15670210). Interacts with POLD4 (PubMed:16510448).
    Miscellaneous:
    • In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis

neXtProt entry for POLD1 Gene

Proteomics data for POLD1 Gene at MOPED

Post-translational modifications for POLD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys272, Lys323, Lys373, Lys414, Lys439, Lys514, Lys554, Lys648, Lys653, Lys710, Lys738, Lys750, Lys796, Lys885, Lys897, Lys931, Lys964, Lys998, Lys1007, Lys1039, and Lys1087

Domains for POLD1 Gene

Gene Families for POLD1 Gene

HGNC:
  • POL :DNA polymerases

UniProtKB/Swiss-Prot:

DPOD1_HUMAN
Domain:
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.:
    • P28340
Family:
  • Belongs to the DNA polymerase type-B family.:
    • P28340
Similarity:
  • Contains 1 CysA-type zinc finger.:
    • P28340
genes like me logo Genes that share domains with POLD1: view

Function for POLD1 Gene

Molecular function for POLD1 Gene

GENATLAS Biochemistry: polymerase (DNA directed),delta 1,catalytic subunit 125kDa,involved in DNA replication of nuclear genome,also possessing an intrinsic proofreading function that reduces the levels of errors during replication,deleted in sporadic colorectal cancers
UniProtKB/Swiss-Prot CatalyticActivity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot Function: Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3- to 5-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex

Enzyme Numbers (IUBMB) for POLD1 Gene

Gene Ontology (GO) - Molecular Function for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IDA 16762037
GO:0003682 chromatin binding IDA 16762037
GO:0003684 damaged DNA binding IDA 24939902
genes like me logo Genes that share ontologies with POLD1: view
genes like me logo Genes that share phenotypes with POLD1: view

Animal Models for POLD1 Gene

MGI Knock Outs for POLD1:

No data available for Transcription Factor Targeting and HOMER Transcription for POLD1 Gene

Localization for POLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLD1 Gene COMPARTMENTS Subcellular localization image for POLD1 gene
Compartment Confidence
nucleus 5
chloroplast 2
cytosol 2
mitochondrion 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 20713449
GO:0005634 nucleus IDA 16762037
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with POLD1: view

Pathways for POLD1 Gene

SuperPathways for POLD1 Gene

genes like me logo Genes that share pathways with POLD1: view

Gene Ontology (GO) - Biological Process for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
GO:0000731 DNA synthesis involved in DNA repair IMP 1730053
GO:0006260 DNA replication IMP 16762037
genes like me logo Genes that share ontologies with POLD1: view

Compounds for POLD1 Gene

(5) Tocris Compounds for POLD1 Gene

Compound Action Cas Number
Kenpaullone Potent cyclin-dependent kinase inhibitor. Also inhibits GSK-3 [142273-20-9]
Purvalanol A Cyclin-dependent kinase inhibitor [212844-53-6]
Purvalanol B Cyclin-dependent kinase inhibitor [212844-54-7]
Ro 3306 Cyclin-dependent kinase (cdk) 1 inhibitor [872573-93-8]
SU 9516 Potent cdk2 inhibitor [377090-84-1]

(6) HMDB Compounds for POLD1 Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with POLD1: view

Transcripts for POLD1 Gene

Unigene Clusters for POLD1 Gene

Polymerase (DNA directed), delta 1, catalytic subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for POLD1 Gene

GeneLoc Exon Structure for
POLD1
ECgene alternative splicing isoforms for
POLD1

Expression for POLD1 Gene

mRNA expression in normal human tissues for POLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLD1 Gene

SOURCE GeneReport for Unigene cluster for POLD1 Gene Hs.279413

mRNA Expression by UniProt/SwissProt for POLD1 Gene

P28340-DPOD1_HUMAN
Tissue specificity: Expressed across a panel of tissues, with high levels of expression in heart and lung.
genes like me logo Genes that share expressions with POLD1: view

Orthologs for POLD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLD1 36
  • 98.02 (n)
  • 98.44 (a)
POLD1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLD1 36
  • 89.81 (n)
  • 94.21 (a)
POLD1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLD1 36
  • 88.71 (n)
  • 94.13 (a)
POLD1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pold1 36
  • 84.65 (n)
  • 89.5 (a)
Pold1 16
Pold1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLD1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pold1 36
  • 84.38 (n)
  • 90.03 (a)
lizard
(Anolis carolinensis)
Reptilia POLD1 37
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pold1 36
  • 67.09 (n)
  • 71.6 (a)
Str.1564 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10161 36
zebrafish
(Danio rerio)
Actinopterygii iktdsubc_1d11 36
pold1 36
  • 67.31 (n)
  • 71.28 (a)
pold1 37
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta DNApol-delta 36
  • 60.81 (n)
  • 60.97 (a)
DNApol-delta 37
  • 59 (a)
OneToOne
DNApol-dgr 38
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea F10C2.4 36
  • 51.42 (n)
  • 51.81 (a)
F10C2.4 37
  • 49 (a)
OneToOne
F10C2.4 38
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL189W 36
  • 53.99 (n)
  • 52.28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL3 36
  • 50.91 (n)
  • 51.71 (a)
POL3 37
  • 47 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01607g 36
  • 51.29 (n)
  • 52.57 (a)
soybean
(Glycine max)
eudicotyledons Gma.158 36
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2780 36
  • 55.09 (n)
  • 57.47 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1187 36
rice
(Oryza sativa)
Liliopsida Os.3738 36
Os11g0186400 36
  • 54.87 (n)
  • 57.99 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01192 36
  • 58.19 (n)
  • 54.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc6 36
  • 53.58 (n)
  • 57.33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5611 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 62 (a)
OneToOne
Species with no ortholog for POLD1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLD1 Gene

ENSEMBL:
Gene Tree for POLD1 (if available)
TreeFam:
Gene Tree for POLD1 (if available)

Paralogs for POLD1 Gene

Selected SIMAP similar genes for POLD1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for POLD1 Gene

genes like me logo Genes that share paralogs with POLD1: view

No data available for Paralogs for POLD1 Gene

Variants for POLD1 Gene

Sequence variations from dbSNP and Humsavar for POLD1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs20582 -- 50,401,785(+) CCAGC(A/G/T)CAGCC synonymous-codon, reference, nc-transcript-variant
rs1052471 -- 50,406,437(+) GCTCC(C/T)ACACG missense, reference, nc-transcript-variant
rs1132244 -- 50,407,150(+) GTCAA(A/G)GTCGT synonymous-codon, reference, nc-transcript-variant
rs1143666 -- 50,402,505(+) CCAGC(C/T)GGGAA synonymous-codon, reference, nc-transcript-variant
rs1150930 -- 50,401,132(+) aaaat(A/C/T)caaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLD1 Gene

Variant ID Type Subtype PubMed ID
dgv3976n71 CNV Loss 21882294
nsv912281 CNV Loss 21882294
nsv912282 CNV Loss 21882294
esv2718732 CNV Deletion 23290073
esv2667096 CNV Deletion 23128226

Relevant External Links for POLD1 Gene

HapMap Linkage Disequilibrium report
POLD1
Human Gene Mutation Database (HGMD)
POLD1

Disorders for POLD1 Gene

(2) OMIM Diseases for POLD1 Gene (174761)

UniProtKB/Swiss-Prot

DPOD1_HUMAN
  • Colorectal cancer 10 (CRCS10) [MIM:612591]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) [MIM:615381]: An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. {ECO:0000269 PubMed:23770608}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POLD1

Genetic Association Database (GAD)
POLD1
Human Genome Epidemiology (HuGE) Navigator
POLD1
genes like me logo Genes that share disorders with POLD1: view

Publications for POLD1 Gene

  1. Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene. (PMID: 1722322) Chung D.W. … Downey K.M. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4
  2. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. (PMID: 15113441) Sigurdson A.J. … Struewing J.P. (BMC Cancer 2004) 3 49
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Human Werner helicase interacting protein 1 (WRNIP1) functions as a novel modulator for DNA polymerase delta. (PMID: 15670210) Tsurimoto T. … Enomoto T. (Genes Cells 2005) 3 4
  5. Structure of the gene for the catalytic subunit of human DNA polymerase delta (POLD1). (PMID: 7490075) Chang L.S. … Lee M.Y. (Genomics 1995) 3 23

Products for POLD1 Gene

Sources for POLD1 Gene

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