Property Summary

NCBI Gene PubMed Count 19
Grant Count 10
R01 Count 10
Funding $1,763,750.33
PubMed Score 22.15
PubTator Score 29.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
primitive neuroectodermal tumor 1.100 0.001
juvenile dermatomyositis 1.081 0.000
acute quadriplegic myopathy 1.039 0.000
lung cancer 1.200 0.035
group 3 medulloblastoma 1.500 0.000
nasopharyngeal carcinoma 1.300 0.001
ovarian cancer -1.400 0.000

Gene RIF (8)

PMID Text
26058784 hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation
25528443 miR-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression
24387993 Mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were reported to be responsible for Dowling-Degos disease.
23692084 overexpression of hCLP46 inhibited proliferation of 293TRexs and was correlated with increases in cyclin dependent kinase inhibitors p21 and p27, whereas reduced hCLP46 expression moderately increased cell proliferation.
21458412 lack of hCLP46 results in impaired ligand induced Notch activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI-RB signaling pathway, which may be important for the pathogenesis of leukemia.
20143914 CLP46 was overexpressed in AML, T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch pathway, our finding adds weight to the possible importance of Notch signaling in the pathogenesis of AML and T-ALL.
19822096 Altered C3ORF9 expression in myelodysplastic syndrome was possibly due to different gene regulation in these patients and/or to the increased CD34+ cells.
19822096 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGVIEEDLTPFRG      1 - 70
GISRKMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIGRLPDMEMVINVRDYPQVPKW     71 - 140
MEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTGLGRWDLFREDLVRSAAQWPWKKKNSTAYFR    141 - 210
GSRTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRF    211 - 280
KHLFLCGSLVFHVGDEWLEFFYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHL    281 - 350
QMDDITCYWENLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL                                351 - 392
//

Text Mined References (23)

PMID Year Title
26058784 2015 hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation.
25528443 2015 MicroRNA-134 suppresses endometrial cancer stem cells by targeting POGLUT1 and Notch pathway proteins.
24387993 2014 Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
23692084 2013 Overexpression of hCLP46 enhances Notch activation and regulates cell proliferation in a cell type-dependent manner.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21949356 2011 Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.
21490058 2011 Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi.
21458412 2011 hCLP46 regulates U937 cell proliferation via Notch signaling pathway.
21081508 2011 Universal phosphatase-coupled glycosyltransferase assay.
20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
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