POLD1 - DNA polymerase delta 1, catalytic subunit Gene

Homo sapiens

Also known as CDC2; MDPL; POLD; CRCS10

Gene ID: 5424 | Gene type: protein coding

About POLD1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,384,323-50,418,018 (from NCBI)

This gene has 16 transcripts (splice variants), 179 orthologues, 3 paralogues and is associated with 92 phenotypes. Broad expression in bone marrow (RPKM 7.5), testis (RPKM 4.7) and 24 other tissues.

Summary

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]

POLD1 Products(3)

mRNA	Protein	Name
NM_001256849.1	NP_001243778.1	DNA polymerase delta catalytic subunit isoform 1
NM_001308632.1	NP_001295561.1	DNA polymerase delta catalytic subunit isoform 2
NM_002691.4	NP_002682.2	DNA polymerase delta catalytic subunit isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables DNA-directed DNA polymerase activity	IMP IMP: Inferred from mutant phenotype	16762037	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables damaged DNA binding	IDA IDA: Inferred from direct assay	24939902	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12403614	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA biosynthetic process	IDA IDA: Inferred from direct assay	11595739	GOA
involved in DNA replication	IMP IMP: Inferred from mutant phenotype	16762037	GOA
involved in DNA synthesis involved in DNA repair	IDA IDA: Inferred from direct assay	3335506	GOA
involved in DNA synthesis involved in DNA repair	IMP IMP: Inferred from mutant phenotype	1730053	GOA
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	20334433	GOA
involved in base-excision repair, gap-filling	IDA IDA: Inferred from direct assay	10559260	GOA
involved in cellular response to UV	IDA IDA: Inferred from direct assay	24939902	GOA
involved in error-free translesion synthesis	IDA IDA: Inferred from direct assay	24191025	GOA
involved in fatty acid homeostasis	IMP IMP: Inferred from mutant phenotype	23770608	GOA
involved in nucleotide-excision repair, DNA gap filling	IMP IMP: Inferred from mutant phenotype	20227374	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	24270157	GOA
part of delta DNA polymerase complex	IDA IDA: Inferred from direct assay	11595739	GOA
part of delta DNA polymerase complex	IPI IPI: Inferred from physical interaction	12403614	GOA
part of nucleotide-excision repair complex	IDA IDA: Inferred from direct assay	20713449	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16762037	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLD1 Protein Structure

DNA_pol_B_exo1

DNA_pol_B

zf-C4pol

0
200
400
600
800
1000
1107 a.a.

Protein Preferred Names

Protein Names

DNA polymerase delta catalytic subunit

3'-5' exodeoxyribonuclease

Related Diseases

Diseases

Alias

Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome

Mdp Syndrome	Mandibular Hypoplasia-Deafness-Progeroid Syndrome
MDPL	Mdpl Syndrome
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome	Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome
Lipodystrophy	Mandibular Hypoplasia, Deafness, Progeroid Features
Hypoplasia, Mandibular, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome

Colorectal Cancer 10

Colorectal Cancer, Susceptibility To, 10	CRCS10
Colorectal Cancer On Chromosome 19q	Colorectal Cancer, Susceptibility To, On Chromosome 19q
Susceptibility To Colorectal Cancer On Chromosome 19q	Cancer, Colorectal, Susceptibility To, Type 10

Polymerase Proofreading-Related Adenomatous Polyposis

Ppap

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome	Common Syndrome
Bap1 Cancer Syndrome	Bap1-Tpds
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms	Tumor Predisposition Syndrome
Tumor Susceptibility Linked To Germline Bap1 Mutations	Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Tumor Predisposition

Rectosigmoid Cancer

Rectosigmoid Junction Cancer	Malignant Neoplasm Of Rectosigmoid Junction
Malignant Neoplasm Of Rectosigmoid	Malignant Rectosigmoid Tumor
Malignant Tumor Of Rectosigmoid Junction

Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis	FAP2
Colorectal Adenomatous Polyposis, Autosomal Recessive	Adenomas, Multiple Colorectal
Mutyh-Associated Polyposis	Mutyh-Related Attenuated Familial Polyposis Coli
Mutyh-Related Attenuated Fap	Adenomas, Multiple Colorectal, Autosomal Recessive
Mutyh-Related Afap	Adenomas Multiple Colorectal Autosomal Recessive
Colorectal Adenomatous Polyposis Autosomal Recessive	Adenomatous Polyposis, Familial, Type 2

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Mismatch Repair Cancer Syndrome

Turcot Syndrome	Brain Tumor-Polyposis Syndrome 1
Btp1 Syndrome	Btps1
Childhood Cancer Syndrome	Cmmr-D Syndrome
Cmmrds	Constitutional Mismatch Repair Deficiency Syndrome
Mmr Deficiency	Cancer Syndrome, Mismatch Repair
Malignant Childhood Neoplasm

Hereditary Mixed Polyposis Syndrome

Hmps

Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids	Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
Alsp	Gpsc
Subcortical Gliosis Of Neumann	Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids	Hdls
HDLS1	Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia
Gliosis, Familial Progressive Subcortical	Leukoencephalopathy, Diffuse Hereditary, With Spheroids
Pold	Pigmentary Orthochromatic Leukodystrophy
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia	Familial Progressive Subcortical Gliosis
Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant	Dementia, Familial, Neumann Type
Adult-Onset Leukodystrophy With Neuroaxonal Spheroids	Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
Neuroaxonal Leukodystrophy	Fpsg
Familial Dementia, Neumann Type	Familial Dementia Neumann Type
Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Colitis

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Juvenile Polyposis Syndrome

JPS	Juvenile Intestinal Polyposis
Jip	Pji
Juvenile Gastrointestinal Polyposis	Juvenile Polyposis
Polyposis, Juvenile Intestinal	Polyposis, Familial, Of Entire Gastrointestinal Tract
Polyposis Familial Of Entire Gastrointestinal Tract	Polyposis Juvenile Intestinal
Polyposis Syndrome, Juvenile

Ruijs-Aalfs Syndrome

Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome

RJALS

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

Intestinal Benign Neoplasm

Intestinal Neoplasms	Intestinal Tumors
Intestine Growth	Neoplasm Of Intestinal Tract

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10819	POLD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	POLD1	VGNC	VGNC:68936
Canis familiaris	POLD1	VGNC	VGNC:44774
Bos taurus	POLD1	VGNC	VGNC:33113
Rattus norvegicus	POLD1	RGD	RGD:621839
Mus musculus	POLD1	MGD	MGI:97741

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