Property Summary

NCBI Gene PubMed Count 13
PubMed Score 47.02
PubTator Score 11.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
Breast cancer 2.400 0.030
ovarian cancer 1.800 0.001

Synonym

Accession Q8TAP9
Symbols ABHS
TTD4
ORF20
C7orf11

Gene

Gene RIF (6)

PMID Text
26880286 This study extends the allelic and phenotypic spectra of MPLKIP-related trichothiodystrophy, to include a splice variant that causes cardiomyopathy as part of the trichothiodystrophy phenotype.
26518168 A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
25290684 There is a distinct phenotype relationship in trichothiodystrophy caused by TTDN1 mutations.
17310276 TTDN1 is phosphorylated in mitosis, and this is required for its interaction with polo-like kinase 1.
16977596 Reported mutations in Trichothiodystrophy do not affect TTDN1 response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD.
15645389 Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair.

AA Sequence

MQRQNFRPPTPPYPGPGGGGWGSGSSFRGTPGGGGPRPPSPRDGYGSPHHTPPYGPRSRPYGSSHSPRHG      1 - 70
GSFPGGRFGSPSPGGYPGSYSRSPAGSQQQFGYSPGQQQTHPQGSPRTSTPFGSGRVREKRMSNELENYF     71 - 140
KPSMLEDPWAGLEPVSVVDISQQYSNTQTFTGKKGRYFC                                   141 - 179
//

Text Mined References (19)

PMID Year Title
26880286 2016 Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
26518168 2015 A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
25290684 2015 Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17310276 2007 TTDN1 is a Plk1-interacting protein involved in maintenance of cell cycle integrity.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
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