• Gene id: 8566

Gene Summary

• Gene Symbol: PDXK   Gene   UCSC   Ensembl
• Aliases: C21orf124, C21orf97, HEL-S-1a, PKH, PNK, PRED79
• Gene name: pyridoxal kinase
• Alternate names: pyridoxal kinase, epididymis secretory sperm binding protein Li 1a, pyridoxal (pyridoxine, vitamin B6) kinase, pyridoxamine kinase, pyridoxine kinase, vitamin B6 kinase,
• Gene location: 21q22.3 (43719096: 43762306)     Exons: 19     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 179020

Protein Summary

• Protein general information: O00764  
  • Name: Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)
  • Length: 312  
  • Mass: 35,102
• Sequence:

  MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMN
  KYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPN
  QFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRK
  VDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDI
  EDPEIVVQATVL

• Structural information:
  • Interpro: IPR013749  IPR004625  IPR029056  
  • CDD: cd01173
  • PDB: 2AJP 2F7K 2YXT 2YXU 3FHX 3FHY 3KEU 4EN4 4EOH
  • PDBsum: 2AJP 2F7K 2YXT 2YXU 3FHX 3FHY 3KEU 4EN4 4EOH
  • STRING: ENSP00000291565
• Other Databases: GeneCards:  PDXK  Malacards:  PDXK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008283	cell proliferation	IDA	biological process
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0009443	pyridoxal 5'-phosphate salvage	IBA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031403	lithium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042816	vitamin B6 metabolic process	IBA	biological process
GO:0042816	vitamin B6 metabolic process	IC	biological process
GO:0042816	vitamin B6 metabolic process	TAS	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008283	cell proliferation	IDA	biological process
GO:0008478	pyridoxal kinase activity	IEA	molecular function
GO:0008478	pyridoxal kinase activity	IEA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0009443	pyridoxal 5'-phosphate salvage	IEA	biological process
GO:0009443	pyridoxal 5'-phosphate salvage	IBA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031403	lithium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042816	vitamin B6 metabolic process	IBA	biological process
GO:0042816	vitamin B6 metabolic process	IC	biological process
GO:0042816	vitamin B6 metabolic process	TAS	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008283	cell proliferation	IDA	biological process
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	IDA	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0008478	pyridoxal kinase activity	TAS	molecular function
GO:0009443	pyridoxal 5'-phosphate salvage	IBA	biological process
GO:0030170	pyridoxal phosphate binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031402	sodium ion binding	IDA	molecular function
GO:0031403	lithium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042816	vitamin B6 metabolic process	IBA	biological process
GO:0042816	vitamin B6 metabolic process	IC	biological process
GO:0042816	vitamin B6 metabolic process	TAS	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0042823	pyridoxal phosphate biosynthetic process	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Parkinson disease	GAD: 20373357
Psychological disorders	GAD: 19086053
Male factor infertility	MIK: 15154080
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 15154080
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15154080	Male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R