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Aliases for POLD1 Gene

Aliases for POLD1 Gene

  • Polymerase (DNA) Delta 1, Catalytic Subunit 2 3
  • DNA Polymerase Subunit Delta P125 3 4
  • EC 2.7.7.7 4 63
  • POLD 3 4
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit (125kD) 2
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit 125kDa 3
  • Polymerase (DNA Directed), Delta 1, Catalytic Subunit 5
  • CDC2 Homolog (S. Cerevisiae) 2
  • CDC2 Homolog 3
  • CRCS10 3
  • CDC2 3
  • MDPL 3

External Ids for POLD1 Gene

Previous HGNC Symbols for POLD1 Gene

  • POLD

Previous GeneCards Identifiers for POLD1 Gene

  • GC19P051516
  • GC19P051248
  • GC19P055563
  • GC19P055580
  • GC19P055581
  • GC19P055582
  • GC19P050889
  • GC19P047225

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) 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 Metabolism and Cell Cycle, Mitotic. GO annotations related to this gene include nucleic acid binding and chromatin 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.

Gene Wiki entry for POLD1 Gene

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

Genomics for POLD1 Gene

Regulatory Elements for POLD1 Gene

Promoters for POLD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POLD1 Gene

Chromosome:
19
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

Genes around POLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

  • Ubiquitination at Lys 272, Lys 323, Lys 373, Lys 414, Lys 439, Lys 514, Lys 554, Lys 648, Lys 653, Lys 710, Lys 738, Lys 750, Lys 796, Lys 885, Lys 897, Lys 931, Lys 964, Lys 998, Lys 1007, Lys 1039, and Lys 1087
  • Modification sites at PhosphoSitePlus

Domains & Families for POLD1 Gene

Gene Families for POLD1 Gene

Suggested Antigen Peptide Sequences for POLD1 Gene

Graphical View of Domain Structure for InterPro Entry

P28340

UniProtKB/Swiss-Prot:

DPOD1_HUMAN :
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
  • Belongs to the DNA polymerase type-B family.
  • Contains 1 CysA-type zinc finger.
Domain:
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
Similarity:
  • Contains 1 CysA-type zinc finger.
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:0003682 chromatin binding IDA 16762037
GO:0005515 protein binding IPI 12403614
GO:0008408 3-5 exonuclease activity IEA --
genes like me logo Genes that share ontologies with POLD1: view
genes like me logo Genes that share phenotypes with POLD1: view

Human Phenotype Ontology for POLD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POLD1 Gene

MGI Knock Outs for POLD1:

Animal Model Products

No data available for Transcription Factor Targets 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
cytosol 3

Gene Ontology (GO) - Cellular Components for POLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with POLD1: view

Pathways & Interactions for POLD1 Gene

SuperPathways for POLD1 Gene

Superpath Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 Mismatch repair
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
5 DNA Double-Strand Break Repair
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:0006260 DNA replication IEA,IMP 16762037
GO:0006271 DNA strand elongation involved in DNA replication TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with POLD1: view

No data available for SIGNOR curated interactions for POLD1 Gene

Drugs & Compounds for POLD1 Gene

(4) Drugs for POLD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0
Diphosphate Experimental Pharma 0

(2) Additional Compounds for POLD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
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

Protein differential expression in normal tissues from HIPED for POLD1 Gene

This gene is overexpressed in Fetal gut (9.7), Lymph node (9.1), Peripheral blood mononuclear cells (7.6), Stomach (6.5), and Frontal cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POLD1: view

Protein tissue co-expression partners for POLD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POLD1 Gene

Orthologs for POLD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLD1 35
  • 89.81 (n)
  • 94.21 (a)
POLD1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLD1 35
  • 88.71 (n)
  • 94.13 (a)
POLD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pold1 35
  • 84.65 (n)
  • 89.5 (a)
Pold1 16
Pold1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLD1 35
  • 98.02 (n)
  • 98.44 (a)
POLD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pold1 35
  • 84.38 (n)
  • 90.03 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia POLD1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLD1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pold1 35
  • 67.09 (n)
  • 71.6 (a)
Str.1564 35
zebrafish
(Danio rerio)
Actinopterygii iktdsubc_1d11 35
pold1 35
  • 67.31 (n)
  • 71.28 (a)
pold1 36
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10161 35
fruit fly
(Drosophila melanogaster)
Insecta DNApol-dgr 37
  • 58 (a)
DNApol-delta 35
  • 60.81 (n)
  • 60.97 (a)
DNApol-delta 36
  • 59 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F10C2.4 37
  • 49 (a)
F10C2.4 35
  • 51.42 (n)
  • 51.81 (a)
F10C2.4 36
  • 49 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL189W 35
  • 53.99 (n)
  • 52.28 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01607g 35
  • 51.29 (n)
  • 52.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL3 35
  • 50.91 (n)
  • 51.71 (a)
POL3 36
  • 47 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2780 35
  • 55.09 (n)
  • 57.47 (a)
soybean
(Glycine max)
eudicotyledons Gma.158 35
barley
(Hordeum vulgare)
Liliopsida Hv.1187 35
rice
(Oryza sativa)
Liliopsida Os.3738 35
Os11g0186400 35
  • 54.87 (n)
  • 57.99 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5611 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01192 35
  • 58.19 (n)
  • 54.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc6 35
  • 53.58 (n)
  • 57.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs3218772 - 50,398,939(+) CACCT(C/T)GGCCA nc-transcript-variant, reference, missense
rs3218773 - 50,398,907(+) GGCCC(A/G)TGGGG nc-transcript-variant, reference, missense
rs1726801 - 50,401,817(+) ATCCC(A/G)CGGCT nc-transcript-variant, reference, missense
rs1726803 - 50,402,053(+) CATCA(A/G)CCGGG nc-transcript-variant, reference, missense
rs3218750 - 50,402,065(+) CAGTC(A/G)CGGGG nc-transcript-variant, reference, missense

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

Variation tolerance for POLD1 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.78; 66.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLD1 Gene

Disorders for POLD1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for POLD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLD1
genes like me logo Genes that share disorders with POLD1: view

No data available for Genatlas for POLD1 Gene

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 67
  2. 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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for POLD1 Gene

Sources for POLD1 Gene

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