Details for: POLG
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: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.16
Marker Score: 2742 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71715 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47939 - Cell Name: germ cell (CL0000586)
Fold Change: 0.98
Marker Score: 1719 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30395 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2399 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.94
Marker Score: 1447 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.92
Marker Score: 472 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.91
Marker Score: 428 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.9
Marker Score: 2704 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.88
Marker Score: 13805 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5292 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.86
Marker Score: 4880 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.85
Marker Score: 7283.5 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.84
Marker Score: 7936 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.83
Marker Score: 300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.82
Marker Score: 50390 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.79
Marker Score: 247 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1261 - Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.77
Marker Score: 618 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.76
Marker Score: 245 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.74
Marker Score: 6916 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.73
Marker Score: 555 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.72
Marker Score: 288 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.71
Marker Score: 367 - Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 0.7
Marker Score: 1937.5 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.68
Marker Score: 2850 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.67
Marker Score: 171 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.65
Marker Score: 600.5 - Cell Name: brush cell (CL0002204)
Fold Change: 0.65
Marker Score: 593 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.64
Marker Score: 386 - Cell Name: Leydig cell (CL0000178)
Fold Change: 0.64
Marker Score: 692 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.62
Marker Score: 301 - Cell Name: ependymal cell (CL0000065)
Fold Change: 0.62
Marker Score: 216 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.59
Marker Score: 672 - Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.59
Marker Score: 2272 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.58
Marker Score: 5967.5 - Cell Name: precursor B cell (CL0000817)
Fold Change: 0.58
Marker Score: 381 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.57
Marker Score: 21151 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.57
Marker Score: 3411 - Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.57
Marker Score: 378 - Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.56
Marker Score: 230 - Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 0.55
Marker Score: 239 - Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.54
Marker Score: 20609 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.54
Marker Score: 265 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.53
Marker Score: 422 - Cell Name: cardiac mesenchymal cell (CL0000569)
Fold Change: 0.52
Marker Score: 128.5 - Cell Name: progenitor cell of endocrine pancreas (CL0002351)
Fold Change: 0.52
Marker Score: 113.5 - Cell Name: Unknown (CL0000548)
Fold Change: 0.52
Marker Score: 380 - Cell Name: mesenchymal lymphangioblast (CL0005021)
Fold Change: 0.52
Marker Score: 115.5 - Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 0.52
Marker Score: 439 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.52
Marker Score: 113 - Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 0.51
Marker Score: 1433 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.51
Marker Score: 121.5 - Cell Name: ciliated cell (CL0000064)
Fold Change: 0.51
Marker Score: 1737 - Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.5
Marker Score: 578 - Cell Name: PP cell (CL0000696)
Fold Change: 0.5
Marker Score: 113 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.5
Marker Score: 735 - Cell Name: mature B cell (CL0000785)
Fold Change: 0.5
Marker Score: 364 - Cell Name: paneth cell (CL0000510)
Fold Change: 0.5
Marker Score: 345 - Cell Name: osteoclast (CL0000092)
Fold Change: 0.49
Marker Score: 246 - Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.49
Marker Score: 130 - Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.49
Marker Score: 98.5 - Cell Name: smooth muscle cell of small intestine (CL1000275)
Fold Change: 0.49
Marker Score: 127.5 - Cell Name: proerythroblast (CL0000547)
Fold Change: 0.49
Marker Score: 330 - Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.49
Marker Score: 434 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.49
Marker Score: 203 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.48
Marker Score: 4909 - Cell Name: Schwann cell (CL0002573)
Fold Change: 0.48
Marker Score: 168 - Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.48
Marker Score: 167 - Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.48
Marker Score: 2926 - Cell Name: type I enteroendocrine cell (CL0002277)
Fold Change: 0.48
Marker Score: 119.5 - Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.48
Marker Score: 127 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.48
Marker Score: 285 - Cell Name: erythroblast (CL0000765)
Fold Change: 0.48
Marker Score: 298 - Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 0.48
Marker Score: 518 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.48
Marker Score: 10163 - Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.47
Marker Score: 177 - Cell Name: basal cell (CL0000646)
Fold Change: 0.47
Marker Score: 613 - Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.47
Marker Score: 272 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.47
Marker Score: 7042 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.47
Marker Score: 520 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.47
Marker Score: 1950 - Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.47
Marker Score: 122 - Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 0.47
Marker Score: 100 - Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.47
Marker Score: 92 - Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.47
Marker Score: 352 - Cell Name: pro-B cell (CL0000826)
Fold Change: 0.47
Marker Score: 452 - Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.47
Marker Score: 297 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.47
Marker Score: 9296 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.46
Marker Score: 489 - Cell Name: tendon cell (CL0000388)
Fold Change: 0.46
Marker Score: 113.5 - Cell Name: intestine goblet cell (CL0019031)
Fold Change: 0.46
Marker Score: 442 - Cell Name: glomerular endothelial cell (CL0002188)
Fold Change: 0.46
Marker Score: 117 - Cell Name: astrocyte (CL0000127)
Fold Change: 0.46
Marker Score: 399 - Cell Name: plasmacytoid dendritic cell, human (CL0001058)
Fold Change: 0.46
Marker Score: 121 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.46
Marker Score: 3521.5 - Cell Name: muscle precursor cell (CL0000680)
Fold Change: 0.46
Marker Score: 119 - Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 0.46
Marker Score: 461 - Cell Name: vasa recta descending limb cell (CL1001285)
Fold Change: 0.46
Marker Score: 126
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Other Information
Genular Protein ID: 2206512358
Symbol: DPOG1_HUMAN
Name: DNA polymerase subunit gamma-1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8884268
Title: Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.
PubMed ID: 8884268
PubMed ID: 9034326
Title: Mitochondrial DNA polymerases from yeast to man: a new family of polymerases.
PubMed ID: 9034326
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: 18063578
Title: The layered structure of human mitochondrial DNA nucleoids.
PubMed ID: 18063578
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 26942291
Title: PRICKLE2 mutations might not be involved in epilepsy.
PubMed ID: 26942291
PubMed ID: 29290964
Title: Tetratricopeptide repeat domain 3 overexpression tends to form aggregates and inhibit ubiquitination and degradation of DNA polymerase gamma.
PubMed ID: 29290964
PubMed ID: 33855352
Title: Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
PubMed ID: 33855352
PubMed ID: 11431686
Title: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
PubMed ID: 11431686
DOI: 10.1038/90034
PubMed ID: 12210792
Title: Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
PubMed ID: 12210792
DOI: 10.1002/ana.10278
PubMed ID: 11897778
Title: Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
PubMed ID: 11897778
PubMed ID: 12975295
Title: Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
PubMed ID: 12975295
PubMed ID: 12825077
Title: Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
PubMed ID: 12825077
PubMed ID: 12872260
Title: Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
PubMed ID: 12872260
DOI: 10.1002/humu.10246
PubMed ID: 14635118
Title: POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
PubMed ID: 14635118
DOI: 10.1002/humu.9203
PubMed ID: 12707443
Title: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
PubMed ID: 12707443
PubMed ID: 14694057
Title: Patient homozygous for a recessive POLG mutation presents with features of MERRF.
PubMed ID: 14694057
PubMed ID: 12565911
Title: Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
PubMed ID: 12565911
PubMed ID: 15122711
Title: POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
PubMed ID: 15122711
DOI: 10.1002/ana.20079
PubMed ID: 15349879
Title: Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
PubMed ID: 15349879
DOI: 10.1002/ana.20219
PubMed ID: 15534189
Title: A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism.
PubMed ID: 15534189
PubMed ID: 15351195
Title: Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
PubMed ID: 15351195
PubMed ID: 14745080
Title: POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
PubMed ID: 14745080
DOI: 10.1212/wnl.62.2.316
PubMed ID: 15477547
Title: POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
PubMed ID: 15477547
PubMed ID: 16080118
Title: Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
PubMed ID: 16080118
DOI: 10.1086/444548
PubMed ID: 15929042
PubMed ID: 15689359
Title: Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
PubMed ID: 15689359
DOI: 10.1093/brain/awh410
PubMed ID: 15917273
Title: Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
PubMed ID: 15917273
DOI: 10.1093/hmg/ddi196
PubMed ID: 15824347
Title: Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
PubMed ID: 15824347
PubMed ID: 16634032
Title: Early-onset familial parkinsonism due to POLG mutations.
PubMed ID: 16634032
DOI: 10.1002/ana.20831
PubMed ID: 16401742
Title: Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
PubMed ID: 16401742
PubMed ID: 16621917
Title: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
PubMed ID: 16621917
DOI: 10.1093/brain/awl088
PubMed ID: 16639411
Title: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
PubMed ID: 16639411
PubMed ID: 16919951
PubMed ID: 17420318
Title: Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
PubMed ID: 17420318
PubMed ID: 17846414
Title: Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
PubMed ID: 17846414
PubMed ID: 18575922
Title: Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia.
PubMed ID: 18575922
PubMed ID: 18828154
Title: Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
PubMed ID: 18828154
DOI: 10.1002/humu.20852
PubMed ID: 19307547
Title: Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
PubMed ID: 19307547
PubMed ID: 25129007
Title: Mitochondrial DNA depletion syndrome causing liver failure.
PubMed ID: 25129007
Sequence Information:
- Length: 1239
- Mass: 139562
- Checksum: 2D9ECCD75AD6E01E
- Sequence:
MSRLLWRKVA GATVGPGPVP APGRWVSSSV PASDPSDGQR RRQQQQQQQQ QQQQQPQQPQ VLSSEGGQLR HNPLDIQMLS RGLHEQIFGQ GGEMPGEAAV RRSVEHLQKH GLWGQPAVPL PDVELRLPPL YGDNLDQHFR LLAQKQSLPY LEAANLLLQA QLPPKPPAWA WAEGWTRYGP EGEAVPVAIP EERALVFDVE VCLAEGTCPT LAVAISPSAW YSWCSQRLVE ERYSWTSQLS PADLIPLEVP TGASSPTQRD WQEQLVVGHN VSFDRAHIRE QYLIQGSRMR FLDTMSMHMA ISGLSSFQRS LWIAAKQGKH KVQPPTKQGQ KSQRKARRGP AISSWDWLDI SSVNSLAEVH RLYVGGPPLE KEPRELFVKG TMKDIRENFQ DLMQYCAQDV WATHEVFQQQ LPLFLERCPH PVTLAGMLEM GVSYLPVNQN WERYLAEAQG TYEELQREMK KSLMDLANDA CQLLSGERYK EDPWLWDLEW DLQEFKQKKA KKVKKEPATA SKLPIEGAGA PGDPMDQEDL GPCSEEEEFQ QDVMARACLQ KLKGTTELLP KRPQHLPGHP GWYRKLCPRL DDPAWTPGPS LLSLQMRVTP KLMALTWDGF PLHYSERHGW GYLVPGRRDN LAKLPTGTTL ESAGVVCPYR AIESLYRKHC LEQGKQQLMP QEAGLAEEFL LTDNSAIWQT VEELDYLEVE AEAKMENLRA AVPGQPLALT ARGGPKDTQP SYHHGNGPYN DVDIPGCWFF KLPHKDGNSC NVGSPFAKDF LPKMEDGTLQ AGPGGASGPR ALEINKMISF WRNAHKRISS QMVVWLPRSA LPRAVIRHPD YDEEGLYGAI LPQVVTAGTI TRRAVEPTWL TASNARPDRV GSELKAMVQA PPGYTLVGAD VDSQELWIAA VLGDAHFAGM HGCTAFGWMT LQGRKSRGTD LHSKTATTVG ISREHAKIFN YGRIYGAGQP FAERLLMQFN HRLTQQEAAE KAQQMYAATK GLRWYRLSDE GEWLVRELNL PVDRTEGGWI SLQDLRKVQR ETARKSQWKK WEVVAERAWK GGTESEMFNK LESIATSDIP RTPVLGCCIS RALEPSAVQE EFMTSRVNWV VQSSAVDYLH LMLVAMKWLF EEFAIDGRFC ISIHDEVRYL VREEDRYRAA LALQITNLLT RCMFAYKLGL NDLPQSVAFF SAVDIDRCLR KEVTMDCKTP SNPTGMERRY GIPQGEALDI YQIIELTKGS LEKRSQPGP
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.