Details for: POLH

Gene ID: 5429

Symbol: POLH

Ensembl ID: ENSG00000170734

Description: DNA polymerase eta

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: choroid plexus epithelial cell (CL0000706)
    Fold Change: 2.24
    Marker Score: 2062
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169028
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.15
    Marker Score: 2013
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71779
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48004
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.96
    Marker Score: 3893
  • 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: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 442
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.93
    Marker Score: 8874
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.92
    Marker Score: 7939
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2725
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5055
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.87
    Marker Score: 1347
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.85
    Marker Score: 8797
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.85
    Marker Score: 52100
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.84
    Marker Score: 2272.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.82
    Marker Score: 7750
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.79
    Marker Score: 11853
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1239
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 580
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.75
    Marker Score: 437
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 294
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 379
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.73
    Marker Score: 2170
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.71
    Marker Score: 11178
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.71
    Marker Score: 895
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.71
    Marker Score: 415
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2980
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 627
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.68
    Marker Score: 24951
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.65
    Marker Score: 2699
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.65
    Marker Score: 559
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.64
    Marker Score: 4912
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.63
    Marker Score: 2444
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.63
    Marker Score: 12545
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.61
    Marker Score: 23194
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.58
    Marker Score: 464
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.57
    Marker Score: 547
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.57
    Marker Score: 2372
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 435
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.54
    Marker Score: 654
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.53
    Marker Score: 11271
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.51
    Marker Score: 325
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5
    Marker Score: 8925
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.5
    Marker Score: 2060
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.49
    Marker Score: 576
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.48
    Marker Score: 221
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.48
    Marker Score: 1126
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.47
    Marker Score: 214
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.47
    Marker Score: 628
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.47
    Marker Score: 562
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.46
    Marker Score: 2744
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.45
    Marker Score: 603
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.45
    Marker Score: 515
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.44
    Marker Score: 7143
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.44
    Marker Score: 479
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.44
    Marker Score: 154
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.44
    Marker Score: 265
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.43
    Marker Score: 138
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.43
    Marker Score: 473
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.43
    Marker Score: 369
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.42
    Marker Score: 860
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.42
    Marker Score: 927.5
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.42
    Marker Score: 545
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.42
    Marker Score: 278
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.41
    Marker Score: 289
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.41
    Marker Score: 275
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4
    Marker Score: 2584
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.4
    Marker Score: 169
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.4
    Marker Score: 224
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.39
    Marker Score: 555
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.39
    Marker Score: 200
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.39
    Marker Score: 138
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.38
    Marker Score: 387
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.38
    Marker Score: 381
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.38
    Marker Score: 12891
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.38
    Marker Score: 453
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.38
    Marker Score: 655
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.37
    Marker Score: 271
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.37
    Marker Score: 393
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.37
    Marker Score: 519
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.37
    Marker Score: 708
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.37
    Marker Score: 116
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.36
    Marker Score: 114
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.36
    Marker Score: 522
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.36
    Marker Score: 147
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.36
    Marker Score: 344
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.36
    Marker Score: 133
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.36
    Marker Score: 196
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.35
    Marker Score: 272
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.35
    Marker Score: 140
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.35
    Marker Score: 4019
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.34
    Marker Score: 675
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.34
    Marker Score: 99
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.34
    Marker Score: 822

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Other Information

**Key Characteristics:** POLH is a member of the Y-family of DNA polymerases, which are known for their ability to bypass DNA lesions and synthesize DNA on damaged templates. Unlike other DNA polymerases, POLH is characterized by its high processivity, allowing it to synthesize long stretches of DNA without dissociating from the template. This property enables POLH to efficiently repair DNA damage, particularly in the presence of UV light-induced lesions. Additionally, POLH has a high error rate, which can lead to mutations and genetic instability if not properly regulated. **Pathways and Functions:** POLH is involved in various DNA repair pathways, including: 1. **Error-free translesion synthesis:** POLH synthesizes DNA on undamaged templates, bypassing lesions and maintaining genome stability. 2. **Error-prone translesion synthesis:** POLH synthesizes DNA on damaged templates, leading to mutations and genetic instability. 3. **Homology-directed repair (HDR):** POLH can participate in HDR, a process that relies on the presence of a DNA template to repair DNA damage. 4. **Non-homology-directed repair (NHDR):** POLH can also participate in NHDR, a process that relies on the cell's own DNA repair machinery to repair DNA damage. POLH plays a crucial role in maintaining genome stability by: 1. **Repairing UV-induced lesions:** POLH synthesizes DNA on undamaged templates, bypassing UV-induced lesions and maintaining genome stability. 2. **Repairing ionizing radiation-induced lesions:** POLH synthesizes DNA on undamaged templates, bypassing ionizing radiation-induced lesions and maintaining genome stability. 3. **Repairing chemical mutagen-induced lesions:** POLH synthesizes DNA on undamaged templates, bypassing chemical mutagen-induced lesions and maintaining genome stability. **Clinical Significance:** Dysregulation of POLH has been implicated in various human diseases, including: 1. **Cancer:** Mutations in POLH have been associated with an increased risk of cancer, particularly in cells with high replication rates, such as germ cells and intestinal epithelial cells. 2. **Neurodegenerative diseases:** Dysregulation of POLH has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Genetic instability:** Mutations in POLH can lead to genetic instability, increasing the risk of mutations and genetic disorders. In conclusion, POLH is a critical enzyme involved in DNA repair and replication, playing a crucial role in maintaining genome stability. Dysregulation of POLH has been implicated in various human diseases, highlighting the importance of this enzyme in human health. Further research is needed to fully understand the mechanisms by which POLH regulates DNA repair and replication, and to explore potential therapeutic strategies for targeting POLH in the treatment of human diseases.

Genular Protein ID: 2068866310

Symbol: POLH_HUMAN

Name: DNA polymerase eta

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10385124

Title: The XPV (Xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.

PubMed ID: 10385124

DOI: 10.1038/21447

PubMed ID: 10398605

Title: hRAD30 mutations in the variant form of xeroderma pigmentosum.

PubMed ID: 10398605

DOI: 10.1126/science.285.5425.263

PubMed ID: 11032022

Title: Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.

PubMed ID: 11032022

DOI: 10.1038/sj.onc.1203842

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11743006

Title: Mutations in human DNA polymerase eta motif II alter bypass of DNA lesions.

PubMed ID: 11743006

DOI: 10.1093/emboj/20.24.7303

PubMed ID: 11376341

Title: DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes.

PubMed ID: 11376341

DOI: 10.1038/88740

PubMed ID: 12606586

Title: Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells.

PubMed ID: 12606586

DOI: 10.1093/emboj/cdf618

PubMed ID: 14630940

Title: A mechanism for the exclusion of low-fidelity human Y-family DNA polymerases from base excision repair.

PubMed ID: 14630940

DOI: 10.1101/gad.1146103

PubMed ID: 12644469

Title: Amino acid substitutions at conserved tyrosine 52 alter fidelity and bypass efficiency of human DNA polymerase eta.

PubMed ID: 12644469

DOI: 10.1074/jbc.m300686200

PubMed ID: 14734526

Title: DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination.

PubMed ID: 14734526

DOI: 10.1084/jem.20031831

PubMed ID: 15149598

Title: Interaction of human DNA polymerase eta with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage.

PubMed ID: 15149598

DOI: 10.1016/s1097-2765(04)00259-x

PubMed ID: 16357261

Title: Ubiquitin-binding domains in Y-family polymerases regulate translesion synthesis.

PubMed ID: 16357261

DOI: 10.1126/science.1120615

PubMed ID: 20554254

Title: Crosstalk between replicative and translesional DNA polymerases: PDIP38 interacts directly with Poleta.

PubMed ID: 20554254

DOI: 10.1016/j.dnarep.2010.04.010

PubMed ID: 20159558

Title: Regulation of translesion synthesis DNA polymerase eta by monoubiquitination.

PubMed ID: 20159558

DOI: 10.1016/j.molcel.2009.12.039

PubMed ID: 21791603

Title: Pirh2 E3 ubiquitin ligase monoubiquitinates DNA polymerase eta to suppress translesion DNA synthesis.

PubMed ID: 21791603

DOI: 10.1128/mcb.05808-11

PubMed ID: 22801543

Title: Spatiotemporal recruitment of human DNA polymerase delta to sites of UV damage.

PubMed ID: 22801543

DOI: 10.4161/cc.21280

PubMed ID: 24553286

Title: TRIP/NOPO E3 ubiquitin ligase promotes ubiquitylation of DNA polymerase eta.

PubMed ID: 24553286

DOI: 10.1242/dev.101196

PubMed ID: 24485656

Title: Breast cancer proteins PALB2 and BRCA2 stimulate polymerase eta in recombination-associated DNA synthesis at blocked replication forks.

PubMed ID: 24485656

DOI: 10.1016/j.celrep.2014.01.009

PubMed ID: 24449906

Title: Human Pol zeta purified with accessory subunits is active in translesion DNA synthesis and complements Pol eta in cisplatin bypass.

PubMed ID: 24449906

DOI: 10.1073/pnas.1324001111

PubMed ID: 27062441

Title: A novel mode of ubiquitin recognition by the ubiquitin-binding zinc finger domain of WRNIP1.

PubMed ID: 27062441

DOI: 10.1111/febs.13734

PubMed ID: 27284197

Title: Capture of a third Mg is essential for catalyzing DNA synthesis.

PubMed ID: 27284197

DOI: 10.1126/science.aad9633

PubMed ID: 11121129

Title: Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

PubMed ID: 11121129

DOI: 10.1046/j.1523-1747.2000.00154.x

PubMed ID: 11773631

Title: Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum variant patients.

PubMed ID: 11773631

DOI: 10.1073/pnas.022473899

PubMed ID: 24130121

Title: Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

PubMed ID: 24130121

DOI: 10.1002/humu.22462

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 713
  • Mass: 78413
  • Checksum: 6D1D35A0F56ECE89
  • Sequence:
  • MATGQDRVVA LVDMDCFFVQ VEQRQNPHLR NKPCAVVQYK SWKGGGIIAV SYEARAFGVT 
    RSMWADDAKK LCPDLLLAQV RESRGKANLT KYREASVEVM EIMSRFAVIE RASIDEAYVD 
    LTSAVQERLQ KLQGQPISAD LLPSTYIEGL PQGPTTAEET VQKEGMRKQG LFQWLDSLQI 
    DNLTSPDLQL TVGAVIVEEM RAAIERETGF QCSAGISHNK VLAKLACGLN KPNRQTLVSH 
    GSVPQLFSQM PIRKIRSLGG KLGASVIEIL GIEYMGELTQ FTESQLQSHF GEKNGSWLYA 
    MCRGIEHDPV KPRQLPKTIG CSKNFPGKTA LATREQVQWW LLQLAQELEE RLTKDRNDND 
    RVATQLVVSI RVQGDKRLSS LRRCCALTRY DAHKMSHDAF TVIKNCNTSG IQTEWSPPLT 
    MLFLCATKFS ASAPSSSTDI TSFLSSDPSS LPKVPVTSSE AKTQGSGPAV TATKKATTSL 
    ESFFQKAAER QKVKEASLSS LTAPTQAPMS NSPSKPSLPF QTSQSTGTEP FFKQKSLLLK 
    QKQLNNSSVS SPQQNPWSNC KALPNSLPTE YPGCVPVCEG VSKLEESSKA TPAEMDLAHN 
    SQSMHASSAS KSVLEVTQKA TPNPSLLAAE DQVPCEKCGS LVPVWDMPEH MDYHFALELQ 
    KSFLQPHSSN PQVVSAVSHQ GKRNPKSPLA CTNKRPRPEG MQTLESFFKP LTH

Genular Protein ID: 1402278466

Symbol: B3KN75_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 701
  • Mass: 76984
  • Checksum: 21AFFACEFC8EB764
  • Sequence:
  • MATGQDRVVA LVDMDCFFVQ VEQRQNPHLR NKPCAVVQYK SWKGGGIIAV SYEARAFGVT 
    RSMWADDAKK LCPDLLLAQV RESRGKANLT KYREASVEVM EIMSRFAVIE RASIDEAYVD 
    LTSAVQERLQ KLQGQPISAD LLPSTYIEGL PQGPTTAEET VQKEGMRKQG LFQWLDSLQI 
    DNLTSPDLQL TVGAVIVEEM RAAIERETGF QCSAGISHNK VLAKLACGLN KPNRQTLVSH 
    GSVPQLFSQM PIRKIRSLGG KLGASVIEIL GIEYMGELTQ FTESQLQSHF GEKNGSWLYA 
    MCRGIEHDPV KPRQLPKTIG CSKNFPGKTA LATREQVQWW LLQLAQELEE RLTKDRNDND 
    RVATQLVVSI RVQGDKRLSS LRRCCALTRY DAHKMSHDAF TVIKNCNTSG IQTEWSPPLT 
    MLFLCATKFS ASAPSSSTDI TSFLSSDPSS LPKVPVTSSE AKTQGSGPAV TATKKATTSL 
    ESFFQKAAER QKVKEASLSS LTAPTQAPMS NSPSKPSLPF QTSQSTGTEP FFKQKSLLLK 
    QKQLNNSSVS SPQQNPWSNC KALPNSLPTE YPGCVPVCEG VSKLEESSKA TPAEMDLAHN 
    SQSMHASSAS KSVLEVTQKA TPNPSLLAAE DQVPCEKCGS LVPVWDMPEH MDYHFALELQ 
    KSFLQPHSSN PQVVSAVSHQ GKRNPKSPLA CTNKRPRPEG M

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.