MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.7.7.7	Transferases; Transferring phosphorus-containing groups; Nucleotidyltransferases; DNA-directed DNA polymerase
3.1.11.-	Hydrolases; Acting on ester bonds; Exodeoxyribonucleases producing 5'-phosphomonoesters;

Structure

PDB	Resolution (Å)	PDB name
5VBN	2.35	Crystal Structure of human DNA polymerase epsilon B-subunit in complex with C-terminal domain of catalytic subunit
7PFO	3.2	Core human replisome
7PLO	2.8	H. sapiens replisome-CUL2/LRR1 complex

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006260	DNA replication
Biological Process	GO:0045004	DNA replication proofreading
Biological Process	GO:0000731	DNA synthesis involved in DNA repair
Biological Process	GO:0006261	DNA-templated DNA replication
Biological Process	GO:0000082	G1/S transition of mitotic cell cycle
Biological Process	GO:0006287	base-excision repair, gap-filling
Biological Process	GO:0048568	embryonic organ development
Biological Process	GO:0006272	leading strand elongation
Biological Process	GO:0000278	mitotic cell cycle
Biological Process	GO:0006297	nucleotide-excision repair, DNA gap filling
Molecular Function	GO:0051539	4 iron, 4 sulfur cluster binding
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0003887	DNA-directed DNA polymerase activity
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0000166	nucleotide binding
Molecular Function	GO:0008310	single-stranded DNA 3'-5' DNA exonuclease activity
Molecular Function	GO:0008270	zinc ion binding
Cellular Component	GO:0008622	epsilon DNA polymerase complex
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005886	plasma membrane

InterPro / Pfam

InterPro	InterPro name
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 superfamily
IPR013697	DNA polymerase epsilon, catalytic subunit A, C-terminal
IPR023211	DNA polymerase, palm domain superfamily
IPR029703	DNA polymerase epsilon catalytic subunit
IPR036397	Ribonuclease H superfamily
IPR042087	DNA polymerase family B, thumb domain
IPR043502	DNA/RNA polymerase superfamily

Pfam	Pfam name
PF00136	DNA polymerase family B
PF03104	DNA polymerase family B, exonuclease domain
PF08490	Domain of unknown function (DUF1744)

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-110314	Recognition of DNA damage by PCNA-containing replication complex	Leaf	R-HSA-73894	DNA Repair
R-HSA-5651801	PCNA-Dependent Long Patch Base Excision Repair	Leaf	R-HSA-73894	DNA Repair
R-HSA-5656169	Termination of translesion DNA synthesis	Leaf	R-HSA-73894	DNA Repair
R-HSA-5685942	HDR through Homologous Recombination (HRR)	Internal node	R-HSA-73894	DNA Repair
R-HSA-5696397	Gap-filling DNA repair synthesis and ligation in GG-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-5696400	Dual Incision in GG-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-6782135	Dual incision in TC-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER	Leaf	R-HSA-73894	DNA Repair
R-HSA-68952	DNA replication initiation	Leaf	R-HSA-69306	DNA Replication
R-HSA-68962	Activation of the pre-replicative complex	Leaf	R-HSA-69306	DNA Replication

Subcellular location

Location	ECO term	Pubmed
Nucleus

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000078	Abnormality of the genital system
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000252	Microcephaly
HP:0000272	Malar flattening
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000460	Narrow nose
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000835	Adrenal hypoplasia
HP:0000938	Osteopenia
HP:0000957	Cafe-au-lait spot
HP:0000964	Eczema
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001511	Intrauterine growth retardation
HP:0002007	Frontal bossing
HP:0002110	Bronchiectasis
HP:0002650	Scoliosis
HP:0002653	Bone pain
HP:0002719	Recurrent infections
HP:0002721	Immunodeficiency
HP:0002783	Recurrent lower respiratory tract infections
HP:0002788	Recurrent upper respiratory tract infections
HP:0002850	Decreased circulating total IgM
HP:0002983	Micromelia
HP:0003002	Breast carcinoma
HP:0003189	Long nose
HP:0003510	Severe short stature
HP:0003577	Congenital onset
HP:0003581	Adult onset
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003623	Neonatal onset
HP:0004322	Short stature
HP:0004325	Decreased body weight
HP:0004482	Relative macrocephaly
HP:0005227	Adenomatous colonic polyposis
HP:0005280	Depressed nasal bridge
HP:0007421	Telangiectases of the cheeks
HP:0008244	Congenital adrenal hypoplasia
HP:0008551	Microtia
HP:0008689	Bilateral cryptorchidism
HP:0011463	Childhood onset
HP:0011968	Feeding difficulties
HP:0012114	Endometrial carcinoma
HP:0012189	Hodgkin lymphoma
HP:0012190	T-cell lymphoma
HP:0030084	Clinodactyly
HP:0030692	Brain neoplasm
HP:0030731	Carcinoma
HP:0031367	Metaphyseal striations
HP:0033832	Livedo
HP:0040276	Adenocarcinoma of the colon
HP:0100255	Metaphyseal dysplasia
HP:0100743	Neoplasm of the rectum
HP:0200063	Colorectal polyposis

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
image syndrome	MONDO:0013873	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:614732	Orphanet:85173
colorectal cancer- susceptibility to- 12	MONDO:0014038	C19	chapter2, Neoplasms	OMIM:615083
facial dysmorphism-immunodeficiency-livedo-short stature syndrome	MONDO:0014058	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:615139	Orphanet:352712
polymerase proofreading-related adenomatous polyposis	MONDO:0018653	D12	chapter2, Neoplasms		Orphanet:447877
intrauterine growth retardation- metaphyseal dysplasia- adrenal hypoplasia congenita- genital anomalies- and immunodeficiency	MONDO:0032684	-	-	OMIM:618336

Summary of Q07864

Gene: POLE, POLE1
Protein: DNA polymerase epsilon catalytic subunit A

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q07864

Gene: POLE, POLE1 Protein: DNA polymerase epsilon catalytic subunit A

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: POLE, POLE1
Protein: DNA polymerase epsilon catalytic subunit A