InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POLD1

Summary

InnateDB Protein

IDBP-383794.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POLD1

Protein Name

polymerase (DNA directed), delta 1, catalytic subunit 125kDa

Synonyms

CDC2; CRCS10; MDPL; POLD;

Species

Homo sapiens

Ensembl Protein

ENSP00000406046

InnateDB Gene

IDBG-64392 (POLD1)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus.

Disease Associations

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:0000269PubMed:23263490}. 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:0000269PubMed:23770608}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed across a panel of tissues, with high levels of expression in heart and lung. {ECO:0000269PubMed:23770608}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	59 [view]
Protein-Protein	57 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003887	DNA-directed DNA polymerase activity
GO:0005515	protein binding
GO:0008408	3'-5' exonuclease activity
GO:0046872	metal ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0000278	mitotic cell cycle
GO:0000722	telomere maintenance via recombination
GO:0000723	telomere maintenance
GO:0000731	DNA synthesis involved in DNA repair
GO:0006139	nucleobase-containing compound metabolic process
GO:0006260	DNA replication
GO:0006271	DNA strand elongation involved in DNA replication
GO:0006281	DNA repair
GO:0006283	transcription-coupled nucleotide-excision repair
GO:0006284	base-excision repair
GO:0006287	base-excision repair, gap-filling
GO:0006289	nucleotide-excision repair
GO:0006297	nucleotide-excision repair, DNA gap filling
GO:0007346	regulation of mitotic cell cycle
GO:0009411	response to UV
GO:0032201	telomere maintenance via semi-conservative replication
GO:0043137	DNA replication, removal of RNA primer
GO:0044281	small molecule metabolic process
GO:0045004	DNA replication proofreading
GO:0055089	fatty acid homeostasis
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0000109	nucleotide-excision repair complex
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0016235	aggresome
GO:0043625	delta DNA polymerase complex

Protein Structure and Domains

PDB ID

InterPro

IPR006133 DNA-directed DNA polymerase, family B, exonuclease domain
IPR006134 DNA-directed DNA polymerase, family B, multifunctional domain
IPR006172 DNA-directed DNA polymerase, family B
IPR012337 Ribonuclease H-like domain

PFAM

PF03104
PF00136

PRINTS

PR00106

PIRSF

SMART

SM00486

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt