InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POLE

Summary

InnateDB Protein

IDBP-65712.6

Last Modified

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

Gene Symbol

POLE

Protein Name

polymerase (DNA directed), epsilon

Synonyms

CRCS12; FILS; POLE1;

Species

Homo sapiens

Ensembl Protein

ENSP00000322570

InnateDB Gene

IDBG-65706 (POLE)

Protein Structure

UniProt Annotation

Function

Participates in DNA repair and in chromosomal DNA replication.

Subcellular Localization

Nucleus.

Disease Associations

Colorectal cancer 12 (CRCS12) [MIM:615083]: 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. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. {ECO:0000269PubMed:23263490}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. {ECO:0000269PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [view]
Protein-DNA	0
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:0008270	zinc ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0000082	G1/S transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0000722	telomere maintenance via recombination
GO:0000723	telomere maintenance
GO:0000731	DNA synthesis involved in DNA repair
GO:0001701	in utero embryonic development
GO:0006139	nucleobase-containing compound metabolic process
GO:0006260	DNA replication
GO:0006261	DNA-dependent DNA replication
GO:0006270	DNA replication initiation
GO:0006281	DNA repair
GO:0006283	transcription-coupled nucleotide-excision repair
GO:0006287	base-excision repair, gap-filling
GO:0006289	nucleotide-excision repair
GO:0006297	nucleotide-excision repair, DNA gap filling
GO:0032201	telomere maintenance via semi-conservative replication
GO:0071897	DNA biosynthetic process

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0008622	epsilon 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
IPR013697 DNA polymerase epsilon, catalytic subunit A, C-terminal
IPR019288 Predicted 3\'-5\' exonuclease, PolB-like

PFAM

PF03104
PF00136
PF08490
PF10108

PRINTS

PR00106

PIRSF

SMART

SM00486

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt