Property Summary

NCBI Gene PubMed Count 42
Grant Count 7
Funding $469,738
PubMed Score 86.63
PubTator Score 57.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Gene RIF (12)

PMID Text
24848070 We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes.
24204001 Coactivator of the HNFB1 (HNF1 homeobox B)-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule
20532202 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19674121 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19491146 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16423549 Properties of dehydratase/DCoHalpha are consistent with hypothesis that activity of this isozyme could account for relatively mild symptoms reported for patients with a defect in dehydratase/DCoH
16385451 Observational study of gene-disease association. (HuGE Navigator)
15740590 Albumin colocalized together with its transcription factor PCD/DCoH/HNF-1alpha in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium.
12565907 Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target.
11668623 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVY      1 - 70
NKVHITLSTHECAGLSERDINLASFIEQVAVSMT                                         71 - 104
//

Text Mined References (44)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24848070 2014 Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24204001 2014 Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21269460 2011 Initial characterization of the human central proteome.
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