PDXK

Pyridoxal kinase is an enzyme that in humans is encoded by the PDXK gene.^[5][6]

PDXK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AJP, 2F7K, 2YXT, 2YXU, 3FHX, 3FHY, 3KEU, 4EN4, 4EOH
Identifiers
Aliases	PDXK, C21orf124, C21orf97, HEL-S-1a, PKH, PNK, PRED79, pyridoxal (pyridoxine, vitamin B6) kinase, pyridoxal kinase, HMSN6C
External IDs	OMIM: 179020; MGI: 1351869; HomoloGene: 2731; GeneCards: PDXK; OMA:PDXK - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 43,719,094 bp[1] End 43,762,307 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 39.72 cM Start 78,272,578 bp[2] End 78,300,809 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm renal medulla dorsal motor nucleus of vagus nerve anterior pituitary Brodmann area 23 right frontal lobe Brodmann area 46 nucleus accumbens Top expressed in central gray substance of midbrain vestibular membrane of cochlear duct entorhinal cortex perirhinal cortex nucleus accumbens motor neuron nucleus of stria terminalis superior colliculus morula morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding protein homodimerization activity pyridoxal kinase activity zinc ion binding potassium ion binding sodium ion binding metal ion binding kinase activity lithium ion binding pyridoxal phosphate binding ATP binding magnesium ion binding Cellular component cytosol extracellular exosome nucleus extracellular region cytoplasm secretory granule lumen specific granule lumen nucleoplasm Biological process pyridoxal phosphate biosynthetic process phosphorylation pyridoxal 5'-phosphate salvage cell population proliferation neutrophil degranulation vitamin B6 metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8566 216134 Ensembl ENSG00000160209 ENSMUSG00000032788 UniProt O00764 Q8K183 RefSeq (mRNA) NM_003681 NM_021941 NM_001331030 NM_172134 RefSeq (protein) NP_001317959 NP_003672 NP_742146 Location (UCSC) Chr 21: 43.72 – 43.76 Mb Chr 10: 78.27 – 78.3 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000160209 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032788 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hanna MC, Turner AJ, Kirkness EF (May 1997). "Human pyridoxal kinase. cDNA cloning, expression, and modulation by ligands of the benzodiazepine receptor". J Biol Chem. 272 (16): 10756–60. doi:10.1074/jbc.272.16.10756. PMID 9099727.
6. "Entrez Gene: PDXK pyridoxal (pyridoxine, vitamin B₆) kinase".

Further reading

• Chern CJ, Beutler E (1976). "Biochemical and electrophoretic studies of erythrocyte pyridoxine kinase in white and black Americans". Am. J. Hum. Genet. 28 (1): 9–17. PMC 1684914. PMID 2009.
• Merrill AH, Henderson JM, Wang E, et al. (1984). "Metabolism of vitamin B-6 by human liver". J. Nutr. 114 (9): 1664–74. doi:10.1093/jn/114.9.1664. PMID 6088736.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Zhang Z, Smith E, Surowiec SM, et al. (1993). "Synthesis of N-(4'-pyridoxyl)sphingosine and its uptake and metabolism by isolated cells". Membrane Biochemistry. 10 (1): 53–9. doi:10.3109/09687689309150252. PMID 8510562.
• Lainé-Cessac P, Cailleux A, Allain P (1997). "Mechanisms of the inhibition of human erythrocyte pyridoxal kinase by drugs". Biochem. Pharmacol. 54 (8): 863–70. doi:10.1016/S0006-2952(97)00252-9. PMID 9354586.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
• Lee HS, Moon BJ, Choi SY, et al. (2001). "Human pyridoxal kinase: overexpression and properties of the recombinant enzyme". Mol. Cells. 10 (4): 452–9. doi:10.1016/S1016-8478(23)17501-7. PMID 10987144.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Shin JH, Weitzdoerfer R, Fountoulakis M, et al. (2004). "Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain". Neurochem. Int. 45 (1): 73–9. doi:10.1016/j.neuint.2003.12.004. PMID 15082224. S2CID 20620865.
• Fang X, Zhou ZM, Lu L, et al. (2004). "Expression of a novel pyridoxal kinase mRNA splice variant, PKH-T, in human testis". Asian J. Androl. 6 (2): 83–91. PMID 15154080.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wang L, Zhu YF, Guo XJ, et al. (2006). "A two-dimensional electrophoresis reference map of human ovary". J. Mol. Med. 83 (10): 812–21. doi:10.1007/s00109-005-0676-y. PMID 16021519. S2CID 6644433.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Flanagan JM, Beutler E (2006). "The genetic basis of human erythrocyte pyridoxal kinase activity variation". Haematologica. 91 (6): 801–4. PMID 16704963.
• Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
• Musayev FN, di Salvo ML, Ko TP, et al. (2007). "Crystal Structure of human pyridoxal kinase: Structural basis of M+ and M2+ activation". Protein Sci. 16 (10): 2184–94. doi:10.1110/ps.073022107. PMC 2204131. PMID 17766369.