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
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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]