Property Summary

NCBI Gene PubMed Count 31
Grant Count 8
Funding $1,687,138.01
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 0.000
colon cancer 1.200 0.008
group 3 medulloblastoma 1.200 0.001
ovarian cancer 2.300 0.000
dermatomyositis 1.600 0.000

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.
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