• Gene id: 11212

Gene Summary

• Gene Symbol: PLPBP   Gene   UCSC   Ensembl
• Aliases: EPVB6D, PROSC
• Gene name: pyridoxal phosphate binding protein
• Alternate names: pyridoxal phosphate homeostasis protein, PLP homeostasis protein, proline synthase co-transcribed bacterial homolog protein, proline synthetase co-transcribed bacterial homolog protein,
• Gene location: 8p11.23 (37762545: 37779767)     Exons: 9     NC_000008.11
• Gene summary(Entrez): This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Na
• OMIM: 604436

Protein Summary

• Protein general information: O94903  
  • Name: Pyridoxal phosphate homeostasis protein (PLP homeostasis protein) (Proline synthase co transcribed bacterial homolog protein) (Pyridoxal phosphate binding protein)
  • Length: 275  
  • Mass: 30344
  • Tissue specificity: Ubiquitous.
• Sequence:

  MWRAGSMSAELGVGCALRAVNERVQQAVARRPRDLPAIQPRLVAVSKTKPADMVIEAYGHGQRTFGENYVQELLE
  KASNPKILSLCPEIKWHFIGHLQKQNVNKLMAVPNLFMLETVDSVKLADKVNSSWQRKGSPERLKVMVQINTSGE
  ESKHGLPPSETIAIVEHINAKCPNLEFVGLMTIGSFGHDLSQGPNPDFQLLLSLREELCKKLNIPADQVELSMGM
  SADFQHAVEVGSTNVRIGSTIFGERDYSKKPTPDKCAADVKAPLEVAQEH

• Structural information:
  • Interpro: IPR001608  IPR029066  IPR011078  
  • Prosite: PS01211
  • STRING: ENSP00000333551
• Other Databases: GeneCards:  PLPBP  Malacards:  PLPBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030170	pyridoxal phosphate binding	IBA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0005622	intracellular	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005737	cytoplasm	NAS	cellular component

Diseases

Associated diseases	References
Early-onset vitamin B6-dependent epilepsy	KEGG:H02250
Early-onset vitamin B6-dependent epilepsy	KEGG:H02250
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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