PDXK

Protein-coding gene in the species Homo sapiens

PDXK
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2AJP, 2F7K, 2YXT, 2YXU, 3FHX, 3FHY, 3KEU, 4EN4, 4EOH

Identifiers
AliasesPDXK, C21orf124, C21orf97, HEL-S-1a, PKH, PNK, PRED79, pyridoxal (pyridoxine, vitamin B6) kinase, pyridoxal kinase, HMSN6C
External IDsOMIM: 179020; MGI: 1351869; HomoloGene: 2731; GeneCards: PDXK; OMA:PDXK - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for PDXK
Genomic location for PDXK
Band21q22.3Start43,719,094 bp[1]
End43,762,307 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for PDXK
Genomic location for PDXK
Band10 C1|10 39.72 cMStart78,272,578 bp[2]
End78,300,809 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 10: 78.27 – 78.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000160209 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.
  • v
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  • 2ajp: Crystal structure of a human pyridoxal kinase
    2ajp: Crystal structure of a human pyridoxal kinase
  • 2f7k: Crystal Structure of Human Pyridoxal Kinase
    2f7k: Crystal Structure of Human Pyridoxal Kinase
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