Homo sapiens Gene: PDXK | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 21:43719094-43762307 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q22.3 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Vitamin B6 metabolism pathway
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INOH |
Vitamin B6 metabolism pathway
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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 | ||||||||||||||||||||||