Property Summary

NCBI Gene PubMed Count 8
PubMed Score 5.70
PubTator Score 1.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
ependymoma -1.100 0.017
osteosarcoma -1.552 0.000
non primary Sjogren syndrome sicca 1.100 0.014
ovarian cancer 1.200 0.000

Synonym

Accession O15541 B2RBR7
Symbols TTD5
Cwc24
RNF113
ZNF183

Gene

Gene RIF (1)

PMID Text
25612912 A mutation that resulted in significant reduction of RNF113A protein was implicated in a non-photosensitive form of trichothiodystrophy. Lymphoblastoid cell lines from patients with the mutation in RNF113A had normal DNA damage responses on exposure to mitomycin C, diepoxybutane (DEB), bromodeoxyuridine (BrdU) and irradiation with ultraviolet light.

AA Sequence

MAEQLSPGKAVDQVCTFLFKKPGRKGAAGRRKRPACDPEPGESGSSSDEGCTVVRPEKKRVTHNPMIQKT      1 - 70
RDSGKQKAAYGDLSSEEEEENEPESLGVVYKSTRSAKPVGPEDMGATAVYELDTEKERDAQAIFERSQKI     71 - 140
QEELRGKEDDKIYRGINNYQKYMKPKDTSMGNASSGMVRKGPIRAPEHLRATVRWDYQPDICKDYKETGF    141 - 210
CGFGDSCKFLHDRSDYKHGWQIERELDEGRYGVYEDENYEVGSDDEEIPFKCFICRQSFQNPVVTKCRHY    211 - 280
FCESCALQHFRTTPRCYVCDQQTNGVFNPAKELIAKLEKHRATGEGGASDLPEDPDEDAIPIT           281 - 343
//

Text Mined References (18)

PMID Year Title
25612912 2015 A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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