Homo sapiens Gene: PDXK
Summary
InnateDB Gene IDBG-4833.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDXK
Gene Name pyridoxal (pyridoxine, vitamin B6) kinase
Synonyms C21orf124; C21orf97; HEL-S-1a; PKH; PNK
Species Homo sapiens
Ensembl Gene ENSG00000160209
Encoded Proteins
pyridoxal (pyridoxine, vitamin B6) kinase
pyridoxal (pyridoxine, vitamin B6) kinase
pyridoxal (pyridoxine, vitamin B6) kinase
pyridoxal (pyridoxine, vitamin B6) kinase
pyridoxal (pyridoxine, vitamin B6) kinase
pyridoxal (pyridoxine, vitamin B6) kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:43719094-43762307
Strand Forward strand
Band q22.3
Transcripts
ENST00000291565 ENSP00000291565
ENST00000343528
ENST00000327574 ENSP00000333624
ENST00000398085
ENST00000398081 ENSP00000381155
ENST00000398078
ENST00000468090 ENSP00000418359
ENST00000476084
ENST00000470029
ENST00000498040
ENST00000472777
ENST00000476313
ENST00000481512
ENST00000490666
ENST00000467908 ENSP00000420708
ENST00000468392
ENST00000461123
ENST00000621478 ENSP00000479315
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0008478 pyridoxal kinase activity
GO:0030170 pyridoxal phosphate binding
GO:0030955 potassium ion binding
GO:0031402 sodium ion binding
GO:0031403 lithium ion binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0008283 cell proliferation
GO:0009443 pyridoxal 5'-phosphate salvage
GO:0016310 phosphorylation
GO:0042816 vitamin B6 metabolic process
GO:0042823 pyridoxal phosphate biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Vitamins B6 activation to pyridoxal phosphate pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Vitamin B6 metabolism pathway
INOH
Vitamin B6 metabolism pathway
PID NCI
Cross-References
SwissProt O00764
TrEMBL
UniProt Splice Variant
Entrez Gene 8566
UniGene Hs.284491 Hs.595126 Hs.735882
RefSeq NM_003681 XM_005261195 XM_005261196 XM_005261198 XM_005261199
HUGO HGNC:8819
OMIM 179020
CCDS CCDS13699
HPRD 01526
IMGT
EMBL AP001752 AY303972 BC000123 BC005825 U89606
GenPept AAC51233 AAH00123 AAH05825 AAP73047 BAA95540
RNA Seq Atlas 8566