Protein family
Protein sequence
Protein function
Publications
Catalytic activity
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;
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 6S1M | 4.27 | Human polymerase delta holoenzyme Conformer 1 |
| 6S1N | 4.86 | Human polymerase delta holoenzyme Conformer 2 |
| 6S1O | 8.1 | Human polymerase delta holoenzyme Conformer 3 |
| 6TNY | 3.08 | Processive human polymerase delta holoenzyme |
| 6TNZ | 4.05 | Human polymerase delta-FEN1-PCNA toolbelt |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0071897 | DNA biosynthetic process |
| Biological Process | GO:0006281 | DNA repair |
| 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:0006287 | base-excision repair, gap-filling |
| Biological Process | GO:0034644 | cellular response to UV |
| Biological Process | GO:0070987 | error-free translesion synthesis |
| Biological Process | GO:0055089 | fatty acid homeostasis |
| Biological Process | GO:0006297 | nucleotide-excision repair, DNA gap filling |
| Biological Process | GO:0009411 | response to UV |
| Molecular Function | GO:0008296 | 3'-5'-DNA exonuclease activity |
| 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:0003684 | damaged DNA binding |
| Molecular Function | GO:0019899 | enzyme binding |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0000166 | nucleotide binding |
| Cellular Component | GO:0016235 | aggresome |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0043625 | delta DNA polymerase complex |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0000109 | nucleotide-excision repair complex |
| Cellular Component | GO:0005634 | nucleus |
| 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 |
| IPR017964 | DNA-directed DNA polymerase, family B, conserved site |
| IPR023211 | DNA polymerase, palm domain superfamily |
| IPR025687 | C4-type zinc-finger of DNA polymerase delta |
| 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 |
| PF14260 | C4-type zinc-finger of DNA polymerase delta |
| 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-174411 | Polymerase switching on the C-strand of the telomere | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-174414 | Processive synthesis on the C-strand of the telomere | Internal node | R-HSA-1640170 | Cell Cycle |
| R-HSA-174417 | Telomere C-strand (Lagging Strand) Synthesis | Internal node | R-HSA-1640170 | Cell Cycle |
| R-HSA-174437 | Removal of the Flap Intermediate from the C-strand | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-5358565 | Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | Leaf | R-HSA-73894 | DNA Repair |
| R-HSA-5358606 | Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | 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-69091 | Polymerase switching | Leaf | R-HSA-69306 | DNA Replication |
| R-HSA-69166 | Removal of the Flap Intermediate | Leaf | R-HSA-69306 | DNA Replication |
| R-HSA-69183 | Processive synthesis on the lagging strand | Internal node | R-HSA-69306 | DNA Replication |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000269 | PubMed:11595739 |
| Nucleus | ECO:0000269 | PubMed:20227374 |
| Nucleus | ECO:0000269 | PubMed:22801543 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000026 | Male hypogonadism |
| HP:0000028 | Cryptorchidism |
| HP:0000160 | Narrow mouth |
| HP:0000320 | Bird-like facies |
| HP:0000347 | Micrognathia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000444 | Convex nasal ridge |
| HP:0000520 | Proptosis |
| HP:0000678 | Dental crowding |
| HP:0000819 | Diabetes mellitus |
| HP:0000855 | Insulin resistance |
| HP:0000939 | Osteoporosis |
| HP:0001397 | Hepatic steatosis |
| HP:0001620 | High pitched voice |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002240 | Hepatomegaly |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003002 | Breast carcinoma |
| HP:0003581 | Adult onset |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
| HP:0004334 | Dermal atrophy |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma |
| HP:0009125 | Lipodystrophy |
| HP:0012114 | Endometrial carcinoma |
| HP:0030692 | Brain neoplasm |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0034392 | Joint contracture |
| HP:0040276 | Adenocarcinoma of the colon |
| HP:0100585 | Telangiectasia of the skin |
| HP:0100679 | Lack of skin elasticity |
| HP:0100743 | Neoplasm of the rectum |
| HP:0200063 | Colorectal polyposis |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Supported |
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | High | Supported |
| appendix | lymphoid tissue | High | Supported |
| bone marrow | hematopoietic cells | Medium | Supported |
| breast | glandular cells | Medium | Supported |
| breast | myoepithelial cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | Low | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells | High | Supported |
| cerebellum | cells in granular layer | Low | Supported |
| cerebellum | cells in molecular layer | Medium | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | Low | Supported |
| cerebral cortex | neuronal cells | Medium | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | High | Supported |
| colon | endothelial cells | Medium | Supported |
| colon | glandular cells | High | Supported |
| colon | peripheral nerve/ganglion | Medium | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | cells in endometrial stroma | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | cells in endometrial stroma | Low | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | Medium | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | Medium | Supported |
| heart muscle | cardiomyocytes | Medium | Supported |
| hippocampus | glial cells | Low | Supported |
| hippocampus | neuronal cells | Medium | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | Low | Supported |
| liver | hepatocytes | Low | Supported |
| lung | alveolar cells type I | Medium | Supported |
| lung | alveolar cells type II | Medium | Supported |
| lung | macrophages | High | Supported |
| lymph node | germinal center cells | High | Supported |
| lymph node | non-germinal center cells | High | Supported |
| nasopharynx | respiratory epithelial cells | High | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | follicle cells | High | Supported |
| ovary | ovarian stroma cells | Medium | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | High | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | High | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | Langerhans | Medium | Supported |
| skin 1 | fibroblasts | Medium | Supported |
| skin 1 | keratinocytes | Medium | Supported |
| skin 1 | melanocytes | Medium | Supported |
| skin 2 | epidermal cells | High | Supported |
| small intestine | glandular cells | High | Supported |
| smooth muscle | smooth muscle cells | Medium | Supported |
| soft tissue 1 | chondrocytes | Medium | Supported |
| soft tissue 1 | fibroblasts | Medium | Supported |
| soft tissue 1 | peripheral nerve | Medium | Supported |
| soft tissue 2 | fibroblasts | Medium | Supported |
| soft tissue 2 | peripheral nerve | Medium | Supported |
| spleen | cells in red pulp | Medium | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | Low | Supported |
| testis | pachytene spermatocytes | High | Supported |
| testis | preleptotene spermatocytes | High | Supported |
| testis | round or early spermatids | High | Supported |
| testis | spermatogonia cells | High | Supported |
| thyroid gland | glandular cells | High | Supported |
| tonsil | germinal center cells | High | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| colorectal cancer- susceptibility to- 10 | MONDO:0012953 | C19 | chapter2, Neoplasms | OMIM:612591 | |
| mandibular hypoplasia-deafness-progeroid syndrome | MONDO:0014157 | E34 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:615381 | Orphanet:363649 |
| polymerase proofreading-related adenomatous polyposis | MONDO:0018653 | D12 | chapter2, Neoplasms | Orphanet:447877 |