POLD1 (DNA polymerase delta 1, catalytic subunit)

2003-02-01 Affiliation

Identity

HGNC

POLD1

LOCATION

19q13.33

LOCUSID

5424

ALIAS

CDC2,CRCS10,MDPL,POLD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Bibliography

Pubmed ID	Last Year	Title	Authors
26133394	2016	POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.	Bellido F et al
29056344	2017	Comprehensive Analysis of Hypermutation in Human Cancer.	Campbell BB et al
23528559	2013	DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.	Church DN et al
24583393	2014	Replicative DNA polymerase mutations in cancer.	Heitzer E et al
27320729	2016	POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.	Nicolas E et al
23263490	2013	Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.	Palles C et al
26822575	2016	A panoply of errors: polymerase proofreading domain mutations in cancer.	Rayner E et al
27974823	2016	Roles of human POLD1 and POLD3 in genome stability.	Tumini E et al
24501277	2014	New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.	Valle L et al
9030545	1997	The human POLD1 gene. Identification of an upstream activator sequence, activation by Sp1 and Sp3, and cell cycle regulation.	Zhao L et al

Other Information

Locus ID:

NCBI: 5424
MIM: 174761
HGNC: 9175
Ensembl: ENSG00000062822

Variants:

dbSNP: 5424
ClinVar: 5424
TCGA: ENSG00000062822
COSMIC: POLD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000062822	ENST00000440232	P28340
ENSG00000062822	ENST00000440232	A0A024R4F4
ENSG00000062822	ENST00000593407	M0QXE6
ENSG00000062822	ENST00000593887	M0R2J2
ENSG00000062822	ENST00000593981	M0QXQ2
ENSG00000062822	ENST00000595904	M0R2B7
ENSG00000062822	ENST00000599857	P28340
ENSG00000062822	ENST00000599857	A0A024R4F4
ENSG00000062822	ENST00000600859	M0QZR8
ENSG00000062822	ENST00000601098	P28340
ENSG00000062822	ENST00000601098	A0A024R4F4
ENSG00000062822	ENST00000601098	M0R2I8
ENSG00000062822	ENST00000613923	A0A087WYJ2
ENSG00000062822	ENST00000643407	A0A2R8Y7K6
ENSG00000062822	ENST00000644560	A0A2R8Y705

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Pyrimidine metabolism	KEGG	ko00240
DNA replication	KEGG	ko03030
Base excision repair	KEGG	ko03410
Nucleotide excision repair	KEGG	ko03420
Mismatch repair	KEGG	ko03430
Homologous recombination	KEGG	ko03440
Purine metabolism	KEGG	hsa00230
Pyrimidine metabolism	KEGG	hsa00240
DNA replication	KEGG	hsa03030
Base excision repair	KEGG	hsa03410
Nucleotide excision repair	KEGG	hsa03420
Mismatch repair	KEGG	hsa03430
Homologous recombination	KEGG	hsa03440
Metabolic pathways	KEGG	hsa01100
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
DNA polymerase delta complex	KEGG	hsa_M00262
DNA polymerase delta complex	KEGG	M00262
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
S Phase	REACTOME	R-HSA-69242
Synthesis of DNA	REACTOME	R-HSA-69239
DNA strand elongation	REACTOME	R-HSA-69190
Leading Strand Synthesis	REACTOME	R-HSA-69109
Polymerase switching	REACTOME	R-HSA-69091
Lagging Strand Synthesis	REACTOME	R-HSA-69186
Processive synthesis on the lagging strand	REACTOME	R-HSA-69183
Removal of the Flap Intermediate	REACTOME	R-HSA-69166
Chromosome Maintenance	REACTOME	R-HSA-73886
Telomere Maintenance	REACTOME	R-HSA-157579
Extension of Telomeres	REACTOME	R-HSA-180786
Telomere C-strand (Lagging Strand) Synthesis	REACTOME	R-HSA-174417
Polymerase switching on the C-strand of the telomere	REACTOME	R-HSA-174411
Processive synthesis on the C-strand of the telomere	REACTOME	R-HSA-174414
Removal of the Flap Intermediate from the C-strand	REACTOME	R-HSA-174437
DNA Replication	REACTOME	R-HSA-69306
Metabolism	REACTOME	R-HSA-1430728
Cytosolic iron-sulfur cluster assembly	REACTOME	R-HSA-2564830
DNA Repair	REACTOME	R-HSA-73894
Base Excision Repair	REACTOME	R-HSA-73884
Resolution of Abasic Sites (AP sites)	REACTOME	R-HSA-73933
Resolution of AP sites via the multiple-nucleotide patch replacement pathway	REACTOME	R-HSA-110373
PCNA-Dependent Long Patch Base Excision Repair	REACTOME	R-HSA-5651801
DNA Damage Bypass	REACTOME	R-HSA-73893
Recognition of DNA damage by PCNA-containing replication complex	REACTOME	R-HSA-110314
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template	REACTOME	R-HSA-110313
Termination of translesion DNA synthesis	REACTOME	R-HSA-5656169
Mismatch Repair	REACTOME	R-HSA-5358508
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	REACTOME	R-HSA-5358565
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	REACTOME	R-HSA-5358606
DNA Double-Strand Break Repair	REACTOME	R-HSA-5693532
Homology Directed Repair	REACTOME	R-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)	REACTOME	R-HSA-5693567
HDR through Homologous Recombination (HRR)	REACTOME	R-HSA-5685942
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)	REACTOME	R-HSA-5696399
Dual Incision in GG-NER	REACTOME	R-HSA-5696400
Gap-filling DNA repair synthesis and ligation in GG-NER	REACTOME	R-HSA-5696397
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
Dual incision in TC-NER	REACTOME	R-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NER	REACTOME	R-HSA-6782210

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23263490	2013	Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.	319
23528559	2013	DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.	105
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
22465957	2012	DNA polymerase δ and ζ switch by sharing accessory subunits of DNA polymerase δ.	85
23447401	2013	Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.	85
18701435	2008	Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.	63
24501277	2014	New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.	53
26133394	2016	POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.	48
23770608	2013	An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.	45
17203305	2007	Genetic variation in the base excision repair pathway and bladder cancer risk.	43

Citation

Dessen P

POLD1 (DNA polymerase delta 1, catalytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41770/pold1