Property Summary

NCBI Gene PubMed Count 21
PubMed Score 83.60
PubTator Score 50.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -1.800 2.6e-04
osteosarcoma -1.855 1.4e-07
primitive neuroectodermal tumor -1.100 3.7e-03
pancreatic ductal adenocarcinoma liver m... -2.125 1.0e-03
atypical teratoid/rhabdoid tumor -1.100 5.7e-04
lung carcinoma 1.200 5.0e-24
ovarian cancer 1.200 1.4e-03

Gene RIF (11)

PMID Text
26535729 Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c.546+1G>A (IVS5+1 G>A) and c.620delG (p.G207VfsX215)] in the PNPO gene.
24658933 Challenge to the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures.
24645144 One sequence variant, R116Q, a single nucleotide polymorphism that has been reported in the general population, was found to have an effect on PNPO activity.
22949513 Generalized epilepsies implicates susceptibility genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32.
21283685 provide evidence that a single arginine residue of the C terminus of pyridoxal 5'-phosphate synthase is responsible for coordinating co-operativity in this elaborate protein machinery
19759001 PNP oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme.
18485777 Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure.
17851041 Observational study of gene-disease association. (HuGE Navigator)
17851041 We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects.
15772097 several mutations appear to cause epilepsy
15182361 Results describe a combined computer and biochemical approach to characterize human pyridoxine 5'-phosphate oxidase (PNPO).

AA Sequence

MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAV      1 - 70
QCPDIGEANAMCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQV     71 - 140
RVEGPVKKLPEEEAECYFHSRPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYV    141 - 210
LYPQVMEFWQGQTNRLHDRIVFRRGLPTGDSPLGPMTHRGEEDWLYERLAP                       211 - 261
//

Text Mined References (25)

PMID Year Title
26535729 2015 Pyridoxal 5?-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
24658933 2014 Pyridoxine responsiveness in novel mutations of the PNPO gene.
24645144 2014 Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21283685 2011 It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.
21269460 2011 Initial characterization of the human central proteome.
19759001 2009 Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.
18485777 2008 PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
17851041 2007 Association between PNPO and schizophrenia in the Japanese population.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772097 2005 Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15182361 2004 Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12824491 2003 Structure and properties of recombinant human pyridoxine 5'-phosphate oxidase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10024608 1999 Update on interconversions of vitamin B-6 with its coenzyme.
9601034 1998 Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.