Details for: POLE

Gene ID: 5426

Symbol: POLE

Ensembl ID: ENSG00000177084

Description: DNA polymerase epsilon, catalytic subunit

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.35
    Marker Score: 2355.5
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.14
    Marker Score: 637
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.02
    Marker Score: 2399
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71784
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48009
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.96
    Marker Score: 8271
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.94
    Marker Score: 8920
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.89
    Marker Score: 13947
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5081
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 313
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.84
    Marker Score: 1304
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.82
    Marker Score: 6248
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.81
    Marker Score: 49864
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8
    Marker Score: 903
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.73
    Marker Score: 1493
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 549
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 285
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.71
    Marker Score: 6659
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.71
    Marker Score: 468
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.7
    Marker Score: 10398
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.69
    Marker Score: 468
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 625
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.68
    Marker Score: 397
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.68
    Marker Score: 214
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2805
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.66
    Marker Score: 796
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.63
    Marker Score: 903
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.62
    Marker Score: 837
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.61
    Marker Score: 196
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6
    Marker Score: 232
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3605
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.6
    Marker Score: 22698
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.57
    Marker Score: 336
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.57
    Marker Score: 1548
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.54
    Marker Score: 600
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.54
    Marker Score: 142
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.53
    Marker Score: 530
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.52
    Marker Score: 238
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.51
    Marker Score: 349
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.5
    Marker Score: 294
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.5
    Marker Score: 302
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.49
    Marker Score: 1911
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.47
    Marker Score: 232
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.47
    Marker Score: 433
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.47
    Marker Score: 257
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.45
    Marker Score: 393
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.45
    Marker Score: 1956
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.45
    Marker Score: 601
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.44
    Marker Score: 212
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.44
    Marker Score: 535
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.44
    Marker Score: 1314
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.44
    Marker Score: 321
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.44
    Marker Score: 551
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.43
    Marker Score: 214
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.43
    Marker Score: 175
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.43
    Marker Score: 184
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.43
    Marker Score: 490
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.42
    Marker Score: 410
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.42
    Marker Score: 2730
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.42
    Marker Score: 315
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.41
    Marker Score: 388
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.4
    Marker Score: 321
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.4
    Marker Score: 272
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.39
    Marker Score: 269
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.39
    Marker Score: 413
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.38
    Marker Score: 2061
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.38
    Marker Score: 133
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.38
    Marker Score: 120
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.38
    Marker Score: 251
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.37
    Marker Score: 306
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.37
    Marker Score: 12490
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.37
    Marker Score: 153
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.37
    Marker Score: 220
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.36
    Marker Score: 560
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.36
    Marker Score: 94
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.36
    Marker Score: 151
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.36
    Marker Score: 383
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.36
    Marker Score: 1495
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.35
    Marker Score: 148
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.35
    Marker Score: 773
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.35
    Marker Score: 1424
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.35
    Marker Score: 6885
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.33
    Marker Score: 642
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.33
    Marker Score: 105
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.33
    Marker Score: 158
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.33
    Marker Score: 308
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.33
    Marker Score: 340
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.33
    Marker Score: 158
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.32
    Marker Score: 3350

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key Characteristics:** 1. **DNA Polymerase Epsilon**: POLE is a catalytic subunit of DNA polymerase epsilon, a Y-family DNA polymerase responsible for leading strand synthesis and proofreading during DNA replication. 2. **Highly Expressed in Nervous System Cells**: POLE is significantly expressed in cells of the nervous system, including cerebellar granule cell precursors, GABAergic interneurons, and corticothalamic-projecting glutamatergic cortical neurons. 3. **Involvement in DNA Repair**: POLE is involved in various DNA repair pathways, including base excision repair, nucleotide excision repair, and homologous recombination. 4. **Cell Cycle Regulation**: POLE plays a role in regulating the cell cycle, particularly in the G1/S transition and the mitotic cell cycle. **Pathways and Functions:** 1. **DNA Replication**: POLE is involved in leading strand synthesis and proofreading during DNA replication. 2. **Base Excision Repair**: POLE participates in base excision repair by filling gaps in DNA and repairing damage caused by oxidative stress. 3. **Homologous Recombination**: POLE is involved in homologous recombination, a process that repairs DNA double-strand breaks. 4. **Cell Cycle Regulation**: POLE regulates the G1/S transition and the mitotic cell cycle by controlling DNA replication and repair. 5. **Translesion Synthesis**: POLE participates in translesion synthesis, a process that bypasses lesions on the DNA template during DNA replication. **Clinical Significance:** 1. **Cancer**: Mutations in the POLE gene have been associated with cancer, including breast cancer and leukemia. 2. **Neurological Disorders**: Variants in the POLE gene have been linked to neurological disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Genetic Instability**: POLE mutations can lead to genetic instability, which can result in increased cancer risk and other diseases. 4. **Anticancer Therapies**: POLE inhibitors have been explored as potential anticancer therapies, as they can block DNA replication and repair, leading to cancer cell death. In conclusion, the POLE gene plays a crucial role in maintaining genome stability and regulating cellular processes, including DNA replication and repair. Its involvement in various cellular pathways and its association with cancer and neurological disorders highlight its importance in human health and disease.

Genular Protein ID: 1146027239

Symbol: DPOE1_HUMAN

Name: DNA polymerase epsilon catalytic subunit A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8486689

Title: Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon.

PubMed ID: 8486689

DOI: 10.1016/s0021-9258(18)82195-0

PubMed ID: 10801849

Title: Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon.

PubMed ID: 10801849

DOI: 10.1074/jbc.m002548200

PubMed ID: 11395493

Title: BRCT domain-containing protein TopBP1 functions in DNA replication and damage response.

PubMed ID: 11395493

DOI: 10.1074/jbc.m102245200

PubMed ID: 14500819

Title: The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon.

PubMed ID: 14500819

DOI: 10.1093/nar/gkg765

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 20227374

Title: Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.

PubMed ID: 20227374

DOI: 10.1016/j.molcel.2010.02.009

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23230001

Title: Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome).

PubMed ID: 23230001

DOI: 10.1084/jem.20121303

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 34694004

Title: Structure of a human replisome shows the organisation and interactions of a DNA replication machine.

PubMed ID: 34694004

DOI: 10.15252/embj.2021108819

PubMed ID: 34700328

Title: A conserved mechanism for regulating replisome disassembly in eukaryotes.

PubMed ID: 34700328

DOI: 10.1038/s41586-021-04145-3

PubMed ID: 23263490

Title: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PubMed ID: 23263490

DOI: 10.1038/ng.2503

PubMed ID: 24501277

Title: New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PubMed ID: 24501277

DOI: 10.1093/hmg/ddu058

PubMed ID: 25860647

Title: A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

PubMed ID: 25860647

DOI: 10.1007/s10689-015-9803-2

PubMed ID: 27573199

Title: A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

PubMed ID: 27573199

DOI: 10.1007/s10689-016-9925-1

PubMed ID: 27612425

Title: The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

PubMed ID: 27612425

DOI: 10.18632/oncotarget.11862

PubMed ID: 30503519

Title: DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency.

PubMed ID: 30503519

DOI: 10.1016/j.ajhg.2018.10.024

Sequence Information:

  • Length: 2286
  • Mass: 261518
  • Checksum: A213AE1EA8437DEC
  • Sequence:
  • MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT 
    GWLINMHPTE ILDEDKRLGS AVDYYFIQDD GSRFKVALPY KPYFYIATRK GCEREVSSFL 
    SKKFQGKIAK VETVPKEDLD LPNHLVGLKR NYIRLSFHTV EDLVKVRKEI SPAVKKNREQ 
    DHASDAYTAL LSSVLQRGGV ITDEEETSKK IADQLDNIVD MREYDVPYHI RLSIDLKIHV 
    AHWYNVRYRG NAFPVEITRR DDLVERPDPV VLAFDIETTK LPLKFPDAET DQIMMISYMI 
    DGQGYLITNR EIVSEDIEDF EFTPKPEYEG PFCVFNEPDE AHLIQRWFEH VQETKPTIMV 
    TYNGDFFDWP FVEARAAVHG LSMQQEIGFQ KDSQGEYKAP QCIHMDCLRW VKRDSYLPVG 
    SHNLKAAAKA KLGYDPVELD PEDMCRMATE QPQTLATYSV SDAVATYYLY MKYVHPFIFA 
    LCTIIPMEPD EVLRKGSGTL CEALLMVQAF HANIIFPNKQ EQEFNKLTDD GHVLDSETYV 
    GGHVEALESG VFRSDIPCRF RMNPAAFDFL LQRVEKTLRH ALEEEEKVPV EQVTNFEEVC 
    DEIKSKLASL KDVPSRIECP LIYHLDVGAM YPNIILTNRL QPSAMVDEAT CAACDFNKPG 
    ANCQRKMAWQ WRGEFMPASR SEYHRIQHQL ESEKFPPLFP EGPARAFHEL SREEQAKYEK 
    RRLADYCRKA YKKIHITKVE ERLTTICQRE NSFYVDTVRA FRDRRYEFKG LHKVWKKKLS 
    AAVEVGDAAE VKRCKNMEVL YDSLQLAHKC ILNSFYGYVM RKGARWYSME MAGIVCFTGA 
    NIITQARELI EQIGRPLELD TDGIWCVLPN SFPENFVFKT TNVKKPKVTI SYPGAMLNIM 
    VKEGFTNDQY QELAEPSSLT YVTRSENSIF FEVDGPYLAM ILPASKEEGK KLKKRYAVFN 
    EDGSLAELKG FEVKRRGELQ LIKIFQSSVF EAFLKGSTLE EVYGSVAKVA DYWLDVLYSK 
    AANMPDSELF ELISENRSMS RKLEDYGEQK STSISTAKRL AEFLGDQMVK DAGLSCRYII 
    SRKPEGSPVT ERAIPLAIFQ AEPTVRKHFL RKWLKSSSLQ DFDIRAILDW DYYIERLGSA 
    IQKIITIPAA LQQVKNPVPR VKHPDWLHKK LLEKNDVYKQ KKISELFTLE GRRQVTMAEA 
    SEDSPRPSAP DMEDFGLVKL PHPAAPVTVK RKRVLWESQE ESQDLTPTVP WQEILGQPPA 
    LGTSQEEWLV WLRFHKKKWQ LQARQRLARR KRQRLESAEG VLRPGAIRDG PATGLGSFLR 
    RTARSILDLP WQIVQISETS QAGLFRLWAL VGSDLHCIRL SIPRVFYVNQ RVAKAEEGAS 
    YRKVNRVLPR SNMVYNLYEY SVPEDMYQEH INEINAELSA PDIEGVYETQ VPLLFRALVH 
    LGCVCVVNKQ LVRHLSGWEA ETFALEHLEM RSLAQFSYLE PGSIRHIYLY HHAQAHKALF 
    GIFIPSQRRA SVFVLDTVRS NQMPSLGALY SAEHGLLLEK VGPELLPPPK HTFEVRAETD 
    LKTICRAIQR FLLAYKEERR GPTLIAVQSS WELKRLASEI PVLEEFPLVP ICVADKINYG 
    VLDWQRHGAR RMIRHYLNLD TCLSQAFEMS RYFHIPIGNL PEDISTFGSD LFFARHLQRH 
    NHLLWLSPTA RPDLGGKEAD DNCLVMEFDD QATVEINSSG CYSTVCVELD LQNLAVNTIL 
    QSHHVNDMEG ADSMGISFDV IQQASLEDMI TGGQAASAPA SYDETALCSN TFRILKSMVV 
    GWVKEITQYH NIYADNQVMH FYRWLRSPSS LLHDPALHRT LHNMMKKLFL QLIAEFKRLG 
    SSVIYANFNR IILCTKKRRV EDAIAYVEYI TSSIHSKETF HSLTISFSRC WEFLLWMDPS 
    NYGGIKGKVS SRIHCGLQDS QKAGGAEDEQ ENEDDEEERD GEEEEEAEES NVEDLLENNW 
    NILQFLPQAA SCQNYFLMIV SAYIVAVYHC MKDGLRRSAP GSTPVRRRGA SQLSQEAEGA 
    VGALPGMITF SQDYVANELT QSFFTITQKI QKKVTGSRNS TELSEMFPVL PGSHLLLNNP 
    ALEFIKYVCK VLSLDTNITN QVNKLNRDLL RLVDVGEFSE EAQFRDPCRS YVLPEVICRS 
    CNFCRDLDLC KDSSFSEDGA VLPQWLCSNC QAPYDSSAIE MTLVEVLQKK LMAFTLQDLV 
    CLKCRGVKET SMPVYCSCAG DFALTIHTQV FMEQIGIFRN IAQHYGMSYL LETLEWLLQK 
    NPQLGH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.