Property Summary

NCBI Gene PubMed Count 33
Grant Count 39
R01 Count 25
Funding $9,188,149.65
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 0.009
astrocytic glioma -1.200 0.035
cutaneous lupus erythematosus 1.400 0.003
psoriasis 2.100 0.000
osteosarcoma -1.419 0.000
sonic hedgehog group medulloblastoma -2.300 0.000
glioblastoma -1.400 0.049
atypical teratoid / rhabdoid tumor -1.500 0.000
medulloblastoma, large-cell -2.500 0.000
primitive neuroectodermal tumor -1.400 0.000
non-small cell lung cancer -1.234 0.000
intraductal papillary-mucinous adenoma (... 1.100 0.003
colon cancer 1.500 0.001
lung cancer -1.600 0.001
breast carcinoma -1.100 0.001
Breast cancer 2.200 0.050
pediatric high grade glioma -1.300 0.000
lung adenocarcinoma -1.200 0.000
invasive ductal carcinoma -2.300 0.002
ovarian cancer 2.400 0.000

 MGI Term (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.
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