Property Summary

NCBI Gene PubMed Count 33
PubMed Score 274.42
PubTator Score 41.00

Knowledge Summary

Patent (18,793)

Expression

  Differential Expression (20)

Disease log2 FC p
Multiple myeloma 1.361 8.6e-03
astrocytic glioma -1.200 3.5e-02
cutaneous lupus erythematosus 1.400 2.7e-03
psoriasis 2.100 6.7e-05
osteosarcoma -1.419 4.0e-04
sonic hedgehog group medulloblastoma -2.300 1.0e-06
glioblastoma -1.400 4.9e-02
atypical teratoid / rhabdoid tumor -1.500 6.9e-06
medulloblastoma, large-cell -2.500 4.1e-06
primitive neuroectodermal tumor -1.400 5.4e-05
non-small cell lung cancer -1.234 4.2e-13
intraductal papillary-mucinous adenoma (... 1.100 3.4e-03
colon cancer 1.500 7.6e-04
lung cancer -1.600 8.6e-04
breast carcinoma -1.100 5.4e-04
Breast cancer 2.200 5.0e-02
pediatric high grade glioma -1.300 2.1e-05
lung adenocarcinoma -1.200 3.3e-08
invasive ductal carcinoma -2.300 1.9e-03
ovarian cancer 2.400 5.6e-06

 MGI Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (10)

PMID Text
22647618 The affected pyridoxine metabolism is discussed as an inborn genetic trait in epilepsy in general, rather than a specific sign of pyridoxine-dependent epilepsy solely.
20639122 The pyridoxal kinase showed decreased levels and was highly carbonylated in the gene-on mice
20373357 Observational study of gene-disease association. (HuGE Navigator)
20035503 This study identified a DNA variant (rs2010795) in PDXK associated with an increased risk of PD in the German cohort This association was confirmed in the British and Italian cohorts individually and reached a combined value.
20035503 Observational study of gene-disease association. (HuGE Navigator)
19351586 These results document the role of Asp235 in PL kinase activity.
19086053 Observational study of gene-disease association. (HuGE Navigator)
17766369 The crystal structure of the MgATP complex also reveals Mg(2+) and Na(+) acting in tandem to anchor the ATP at the active site of pyridoxal kinase.
16704963 A promoter mutation with potential erythroid-specific properties that could be the basis of a novel mechanism of controlling cell-specific decreased activity of an essential enzyme in erythrocytes.
15082224 Pyridoxal kinase expression was compared in fetal Down syndrome (DS) brain and controls; PDXK levels were found to be similar.

AA Sequence

MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLR      1 - 70
LNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKV     71 - 140
VPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNP    141 - 210
AGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGE    211 - 280
GVRPSPMQLELRMVQSKRDIEDPEIVVQATVL                                          281 - 312
//

Text Mined References (38)

PMID Year Title
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.
22647618 2012 Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21269460 2011 Initial characterization of the human central proteome.
20639122 2010 Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism.
20373357 2010 The PDXK rs2010795 variant is not associated with Parkinson disease in Italy.
20035503 2009 Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19351586 2009 Kinetic and structural studies of the role of the active site residue Asp235 of human pyridoxal kinase.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17766369 2007 Crystal Structure of human pyridoxal kinase: structural basis of M(+) and M(2+) activation.
16780588 2006 Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins.
16704963 2006 The genetic basis of human erythrocyte pyridoxal kinase activity variation.
16600635 2006 Crystal structure of human pyridoxal kinase.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16021519 2005 A two-dimensional electrophoresis reference map of human ovary.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15154080 2004 Expression of a novel pyridoxal kinase mRNA splice variant, PKH-T, in human testis.
15082224 2004 Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10987144 2000 Human pyridoxal kinase: overexpression and properties of the recombinant enzyme.
10930737 2000 Pyridoxal kinase knockout of Dictyostelium complemented by the human homologue.
10830953 2000 The DNA sequence of human chromosome 21.
10024608 1999 Update on interconversions of vitamin B-6 with its coenzyme.
9354586 1997 Mechanisms of the inhibition of human erythrocyte pyridoxal kinase by drugs.
9252787 1996 Kinetic studies of the effects of K+, Na+ and Li+ on the catalytic activity of human erythrocyte pyridoxal kinase.
9099727 1997 Human pyridoxal kinase. cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptor.
8510562 Synthesis of N-(4'-pyridoxyl)sphingosine and its uptake and metabolism by isolated cells.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
6088736 1984 Metabolism of vitamin B-6 by human liver.
2009 1976 Biochemical and electrophoretic studies of erythrocyte pyridoxine kinase in white and black Americans.