Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8566
Gene name Gene Name - the full gene name approved by the HGNC.
Pyridoxal kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDXK
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMSN6C
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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. A
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs757480516 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs759333796 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs1601814238 T>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016586 hsa-miR-193b-3p Proteomics 21512034
MIRT030630 hsa-miR-24-3p Sequencing 20371350
MIRT030630 hsa-miR-24-3p Microarray 19748357
MIRT051266 hsa-miR-16-5p CLASH 23622248
MIRT049519 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 17766369
GO:0005524 Function ATP binding IDA 16600635, 17766369
GO:0005576 Component Extracellular region TAS
GO:0005634 Component Nucleus HDA 21630459
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
179020 8819 ENSG00000160209
Protein
UniProt ID O00764
Protein name Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)
Protein function Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probabl
PDB 2AJP , 2F7K , 2YXT , 2YXU , 3FHX , 3FHY , 3KEU , 4EN4 , 4EOH , 8WR2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08543 Phos_pyr_kin 70 284 Phosphomethylpyrimidine kinase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:31187503, PubMed:9099727). Highly expressed in testis (PubMed:9099727). {ECO:0000269|PubMed:31187503, ECO:0000269|PubMed:9099727}.; TISSUE SPECIFICITY: [Isoform 3]: In adult testis and spermatozoa. {ECO:0000269|PubMe
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vitamin B6 metabolism
Metabolic pathways
Biosynthesis of cofactors
  Neutrophil degranulation
Vitamins B6 activation to pyridoxal phosphate
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hereditary Motor And Sensory Neuropathy neuropathy, hereditary motor and sensory, type VIc, with optic atrophy GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Coronary artery disease Coronary artery disease GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Blindness Associate 31187503
Carcinoma Hepatocellular Associate 36750831
Carcinoma Non Small Cell Lung Associate 23343765, 26387143
Glomerulonephritis IGA Associate 35769467
Glucocorticoid Receptor Deficiency Inhibit 17696614
Inflammatory Bowel Diseases Associate 35769467
Optic Atrophy Associate 31187503
Ovarian Neoplasms Associate 31973910
Parkinson Disease Associate 20035503
Peripheral Nervous System Diseases Associate 31187503