POLD1 - DNA polymerase delta 1, catalytic subunit Gene

Also Known as CDC2; MDPL; POLD; CRCS10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5424

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	Referencias	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	Referencias	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	Referencias	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

POLD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	POLD1	P28340	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	32296183
Intra	POLD1	P28340	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	32296183
Intra	POLD1	P28340	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32296183
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Anti Tag CoIP	26496610
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Chromatography	16510448
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Density Sedimentation	12403614
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Anti Tag CoIP	31449058
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Pull Down	16510448
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	Ion Exchange Chrom	12403614
Intra	POLD1	P28340	POLD2	Homo sapiens	P49005	GMS	12403614
Intra	POLD1	P28340	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	POLD1	P28340	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	POLD1	P28340	KLHL12	Homo sapiens	Q53G59	Y2H Prey Pooling	32296183
Intra	POLD1	P28340	KLHL12	Homo sapiens	Q53G59	Validated Y2H	32296183
Intra	POLD1	P28340	KLHL12	Homo sapiens	Q53G59	Y2H Array	32296183
Intra	POLD1	P28340	TERF2IP	Homo sapiens	Q9NYB0	Pull Down	21044950
Intra	POLD1	P28340	TERF2IP	Homo sapiens	Q9NYB0	BiFC	21044950
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Ion Exchange Chrom	12403614
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Chromatography	16510448
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Pull Down	16510448
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	GMS	12403614
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Density Sedimentation	12403614
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Anti Tag CoIP	33961781
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Anti Tag CoIP	26496610
Intra	POLD1	P28340	POLD4	Homo sapiens	Q9HCU8	Anti Bait CoIP	12403614
Intra	POLD1	P28340	LASP1	Homo sapiens	Q14847-2	Validated Y2H	32296183
Intra	POLD1	P28340	LASP1	Homo sapiens	Q14847-2	Y2H Array	32296183
Intra	POLD1	P28340	LASP1	Homo sapiens	Q14847-2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

POLD1 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P81973	POLD1 Antibody (YA1718)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P81973A	POLD1 Antibody (YA1718)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS10819	POLD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18833	Pold1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25325	Pold1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	POLD1	NCBI