PDXK (pyridoxal kinase)

2016-10-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
C21orf124,C21orf97,HEL-S-1a,HMSN6C,PKH,PNK,PRED79
FUSION GENES

Other Information

Locus ID:

NCBI: 8566
MIM: 179020
HGNC: 8819
Ensembl: ENSG00000160209

Variants:

dbSNP: 8566
ClinVar: 8566
TCGA: ENSG00000160209
COSMIC: PDXK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160209ENST00000291565O00764
ENSG00000160209ENST00000291565V9HWC3
ENSG00000160209ENST00000327574A8MT14
ENSG00000160209ENST00000398081A8MV33
ENSG00000160209ENST00000467908F2Z2Y4
ENSG00000160209ENST00000468090O00764
ENSG00000160209ENST00000621478A0A0B4J2C9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vitamin B6 metabolismKEGGko00750
Vitamin B6 metabolismKEGGhsa00750
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamins B6 activation to pyridoxal phosphateREACTOMER-HSA-964975
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190860532009Identification 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.34
206391222010Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism.23
200355032009Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.14
200355032009Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.14
150822242004Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.10
177663692007Crystal Structure of human pyridoxal kinase: structural basis of M(+) and M(2+) activation.10
193515862009Kinetic and structural studies of the role of the active site residue Asp235 of human pyridoxal kinase.6
203733572010The PDXK rs2010795 variant is not associated with Parkinson disease in Italy.4
167049632006The genetic basis of human erythrocyte pyridoxal kinase activity variation.2
226476182012Epilepsy as a pyridoxine-dependent condition: quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment.1

Citation

Dessen P

PDXK (pyridoxal kinase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56353/pdxk