Property Summary

NCBI Gene PubMed Count 25
PubMed Score 172.79
PubTator Score 48.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.122 1.7e-03
ovarian cancer 1.200 1.1e-06

Gene RIF (13)

PMID Text
26011300 Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination.
25339210 Mutations in POLR3A are associated with a more severe clinical course of 4H leukodystrophy.
23643445 MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations
23355746 Investigated POLR3A and POLR3B mutations in patients with genetically unexplained hypomyelinating leukodystrophies with features of Pol III-related leukodystrophies. Recessive mutations in POLR3A or POLR3B were uncovered in all 14 patients.
22189167 Studies indicate that aatients with anti-RNAP have an increased risk of malignancy within a 5-year timeframe before or after onset of systemic sclerosis (SSc) skin changes.
22036171 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
21855841 Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18187620 HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC
18187620 Knockdown of polymerase (RNA) III (DNA directed) polypeptide A, (POLR3A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
1403646 HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC

AA Sequence

MVKEQFRETDVAKKISHICFGMKSPEEMRQQAHIQVVSKNLYSQDNQHAPLLYGVLDHRMGTSEKDRPCE      1 - 70
TCGKNLADCLGHYGYIDLELPCFHVGYFRAVIGILQMICKTCCHIMLSQEEKKQFLDYLKRPGLTYLQKR     71 - 140
GLKKKISDKCRKKNICHHCGAFNGTVKKCGLLKIIHEKYKTNKKVVDPIVSNFLQSFETAIEHNKEVEPL    141 - 210
LGRAQENLNPLVVLNLFKRIPAEDVPLLLMNPEAGKPSDLILTRLLVPPLCIRPSVVSDLKSGTNEDDLT    211 - 280
MKLTEIIFLNDVIKKHRISGAKTQMIMEDWDFLQLQCALYINSELSGIPLNMAPKKWTRGFVQRLKGKQG    281 - 350
RFRGNLSGKRVDFSGRTVISPDPNLRIDEVAVPVHVAKILTFPEKVNKANINFLRKLVQNGPEVHPGANF    351 - 420
IQQRHTQMKRFLKYGNREKMAQELKYGDIVERHLIDGDVVLFNRQPSLHKLSIMAHLARVKPHRTFRFNE    421 - 490
CVCTPYNADFDGDEMNLHLPQTEEAKAEALVLMGTKANLVTPRNGEPLIAAIQDFLTGAYLLTLKDTFFD    491 - 560
RAKACQIIASILVGKDEKIKVRLPPPTILKPVTLWTGKQIFSVILRPSDDNPVRANLRTKGKQYCGKGED    561 - 630
LCANDSYVTIQNSELMSGSMDKGTLGSGSKNNIFYILLRDWGQNEAADAMSRLARLAPVYLSNRGFSIGI    631 - 700
GDVTPGQGLLKAKYELLNAGYKKCDEYIEALNTGKLQQQPGCTAEETLEALILKELSVIRDHAGSACLRE    701 - 770
LDKSNSPLTMALCGSKGSFINISQMIACVGQQAISGSRVPDGFENRSLPHFEKHSKLPAAKGFVANSFYS    771 - 840
GLTPTEFFFHTMAGREGLVDTAVKTAETGYMQRRLVKSLEDLCSQYDLTVRSSTGDIIQFIYGGDGLDPA    841 - 910
AMEGKDEPLEFKRVLDNIKAVFPCPSEPALSKNELILTTESIMKKSEFLCCQDSFLQEIKKFIKGVSEKI    911 - 980
KKTRDKYGINDNGTTEPRVLYQLDRITPTQVEKFLETCRDKYMRAQMEPGSAVGALCAQSIGEPGTQMTL    981 - 1050
KTFHFAGVASMNITLGVPRIKEIINASKAISTPIITAQLDKDDDADYARLVKGRIEKTLLGEISEYIEEV   1051 - 1120
FLPDDCFILVKLSLERIRLLRLEVNAETVRYSICTSKLRVKPGDVAVHGEAVVCVTPRENSKSSMYYVLQ   1121 - 1190
FLKEDLPKVVVQGIPEVSRAVIHIDEQSGKEKYKLLVEGDNLRAVMATHGVKGTRTTSNNTYEVEKTLGI   1191 - 1260
EAARTTIINEIQYTMVNHGMSIDRRHVMLLSDLMTYKGEVLGITRFGLAKMKESVLMLASFEKTADHLFD   1261 - 1330
AAYFGQKDSVCGVSECIIMGIPMNIGTGLFKLLHKADRDPNPPKRPLIFDTNEFHIPLVT             1331 - 1390
//

Text Mined References (29)

PMID Year Title
26011300 2015 POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
25339210 2014 Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
24912190 2014 Genome-wide RNAi screen identifies the Parkinson disease GWAS risk locus SREBF1 as a regulator of mitophagy.
24107381 2014 Gene duplication and neofunctionalization: POLR3G and POLR3GL.
23694757 2014 Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
23643445 2014 Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
22189167 2011 Prevalence, correlates and clinical usefulness of antibodies to RNA polymerase III in systemic sclerosis: a cross-sectional analysis of data from an Australian cohort.
22036171 2011 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
21855841 2011 Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19631370 2009 RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway.
19609254 2009 RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19176527 2009 The Carboxyl-terminal Domain of RNA Polymerase II Is Not Sufficient to Enhance the Efficiency of Pre-mRNA Capping or Splicing in the Context of a Different Polymerase.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12391170 2002 Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
12384934 2002 Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay.
11416169 2001 Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2.
9331371 1997 The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III.
1403646 1992 The human immunodeficiency virus tat protein increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor TFIIIC.