Property Summary

NCBI Gene PubMed Count 31
PubMed Score 36.87
PubTator Score 18.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
lung cancer 1.700 6.7e-05
colon cancer 1.200 8.3e-03
group 3 medulloblastoma 1.200 5.3e-04
ovarian cancer 2.300 1.7e-05
dermatomyositis 1.600 2.2e-04

Gene RIF (5)

PMID Text
26151409 This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions.
25790162 We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
24690222 Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
21131976 mutations in both alleles of POLR1C in three individuals with Treacher Collins syndrome.
12446911 analyzed the kinetics of assembly and elongation of the RNA polymerase I complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy

AA Sequence

MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDA      1 - 70
AIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQF     71 - 140
RLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDL    141 - 210
LMHCVKGIGKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRL    211 - 280
DTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD        281 - 346
//

Text Mined References (35)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26151409 2015 Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
25416956 2014 A proteome-scale map of the human interactome network.
24690222 2014 Treacher Collins Syndrome: the genetics of a craniofacial disease.
24107381 2014 Gene duplication and neofunctionalization: POLR3G and POLR3GL.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21269460 2011 Initial characterization of the human central proteome.
21131976 2011 Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15635413 2005 Nucleolar proteome dynamics.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14743216 2004 A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12646563 2003 Rrn3 becomes inactivated in the process of ribosomal DNA transcription.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446911 2002 A kinetic framework for a mammalian RNA polymerase in vivo.
12393749 2002 Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter.
12391170 2002 Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
11971179 2002 WRN helicase accelerates the transcription of ribosomal RNA as a component of an RNA polymerase I-associated complex.
11790298 2002 Directed proteomic analysis of the human nucleolus.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
9653160 1998 Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.
9582279 1998 Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes.
9540830 1998 Cloning and characterization of the human RNA polymerase I subunit hRPA40.
9254723 1997 Constitutive and strong association of PAF53 with RNA polymerase I.
8955128 1996 Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.