Details for: POLH

Gene ID: 5429

Symbol: POLH

Ensembl ID: ENSG00000170734

Description: DNA polymerase eta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 88.6559
    Cell Significance Index: -13.7900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.5648
    Cell Significance Index: -13.8400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.6548
    Cell Significance Index: -12.8600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.4382
    Cell Significance Index: -12.8300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.5738
    Cell Significance Index: -14.2700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.3829
    Cell Significance Index: -14.4200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6391
    Cell Significance Index: -14.3600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.1938
    Cell Significance Index: -6.9900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9689
    Cell Significance Index: 13.2200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7304
    Cell Significance Index: 19.5700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6855
    Cell Significance Index: 136.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6666
    Cell Significance Index: 19.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6411
    Cell Significance Index: 13.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5832
    Cell Significance Index: 26.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5306
    Cell Significance Index: 106.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4952
    Cell Significance Index: 58.4000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4785
    Cell Significance Index: 47.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3843
    Cell Significance Index: 265.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3151
    Cell Significance Index: 36.7300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3055
    Cell Significance Index: 18.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2979
    Cell Significance Index: 32.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2911
    Cell Significance Index: 262.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2842
    Cell Significance Index: 46.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2795
    Cell Significance Index: 100.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2496
    Cell Significance Index: 47.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2315
    Cell Significance Index: 12.9900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2252
    Cell Significance Index: 4.9300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2092
    Cell Significance Index: 16.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1850
    Cell Significance Index: 5.1700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1836
    Cell Significance Index: 9.5400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1560
    Cell Significance Index: 3.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1531
    Cell Significance Index: 6.7700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1502
    Cell Significance Index: 9.2300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1294
    Cell Significance Index: 4.9000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1217
    Cell Significance Index: 21.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1148
    Cell Significance Index: 2.8700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1137
    Cell Significance Index: 2.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1099
    Cell Significance Index: 3.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1097
    Cell Significance Index: 13.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0967
    Cell Significance Index: 6.6900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0908
    Cell Significance Index: 5.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0843
    Cell Significance Index: 5.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0822
    Cell Significance Index: 1.7500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0699
    Cell Significance Index: 1.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0664
    Cell Significance Index: 36.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0596
    Cell Significance Index: 1.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0399
    Cell Significance Index: 75.1000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0374
    Cell Significance Index: 16.5400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0301
    Cell Significance Index: 46.3700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0248
    Cell Significance Index: 33.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0242
    Cell Significance Index: 3.3300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0239
    Cell Significance Index: 0.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0225
    Cell Significance Index: 41.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0170
    Cell Significance Index: 1.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0129
    Cell Significance Index: 8.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0012
    Cell Significance Index: 0.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0021
    Cell Significance Index: -0.3000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0107
    Cell Significance Index: -7.8600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0160
    Cell Significance Index: -12.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0165
    Cell Significance Index: -12.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0197
    Cell Significance Index: -0.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0231
    Cell Significance Index: -13.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0245
    Cell Significance Index: -4.1800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0252
    Cell Significance Index: -15.7300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0292
    Cell Significance Index: -0.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0327
    Cell Significance Index: -4.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0417
    Cell Significance Index: -12.0000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0484
    Cell Significance Index: -3.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0605
    Cell Significance Index: -1.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0643
    Cell Significance Index: -6.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0707
    Cell Significance Index: -8.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0729
    Cell Significance Index: -15.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0779
    Cell Significance Index: -10.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0840
    Cell Significance Index: -2.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1069
    Cell Significance Index: -5.0300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1082
    Cell Significance Index: -1.6300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1084
    Cell Significance Index: -1.2900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1111
    Cell Significance Index: -8.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1200
    Cell Significance Index: -12.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1254
    Cell Significance Index: -6.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1388
    Cell Significance Index: -8.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1672
    Cell Significance Index: -8.7800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1678
    Cell Significance Index: -2.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1692
    Cell Significance Index: -13.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1964
    Cell Significance Index: -6.2900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2035
    Cell Significance Index: -6.4800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2141
    Cell Significance Index: -7.0100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2166
    Cell Significance Index: -3.1100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2179
    Cell Significance Index: -5.9300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2200
    Cell Significance Index: -4.6700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2264
    Cell Significance Index: -6.4600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2328
    Cell Significance Index: -5.0300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2438
    Cell Significance Index: -3.6000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2458
    Cell Significance Index: -4.8600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2649
    Cell Significance Index: -9.2800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2750
    Cell Significance Index: -5.5200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2927
    Cell Significance Index: -7.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3082
    Cell Significance Index: -10.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3115
    Cell Significance Index: -7.7700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3134
    Cell Significance Index: -6.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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:

Q9Y253 Q7L8E3 Q96BC4 Q9BX13

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 Rhea 3 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

PubMed ID: 38212351

Title: Homozygous substitution of threonine 191 by proline in polymerase eta causes Xeroderma pigmentosum variant.

PubMed ID: 38212351

DOI: 10.1038/s41598-023-51120-1

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:

B3KN75

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 4 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PROSITE 4 PeptideAtlas 1 Pfam 4 RefSeq 1 SAM 1 SUPFAM 2

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.