Homo sapiens Protein: PNPO
Summary
InnateDB Protein IDBP-56441.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPO
Protein Name pyridoxamine 5'-phosphate oxidase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000225573
InnateDB Gene IDBG-56439 (PNPO)
Protein Structure
UniProt Annotation
Function Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). {ECO:0000269PubMed:12824491}.
Subcellular Localization
Disease Associations Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]: The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,. {ECO:0000269PubMed:15772097}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004733 pyridoxamine-phosphate oxidase activity
GO:0010181 FMN binding
GO:0016491 oxidoreductase activity
GO:0016638 oxidoreductase activity, acting on the CH-NH2 group of donors
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0008615 pyridoxine biosynthetic process
GO:0042816 vitamin B6 metabolic process
GO:0042823 pyridoxal phosphate biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000659 Pyridoxamine 5\'-phosphate oxidase
IPR011576 Pyridoxamine 5\'-phosphate oxidase-like, FMN-binding domain
IPR012349 FMN-binding split barrel
IPR019576 Pyridoxine 5\'-phosphate oxidase, dimerisation, C-terminal
PFAM PF01243
PF10590
PRINTS
PIRSF PIRSF000190
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NVS9
PhosphoSite PhosphoSite-Q9NVS9
TrEMBL V9HW45
UniProt Splice Variant
Entrez Gene 55163
UniGene Hs.631742
RefSeq NP_060599
HUGO HGNC:30260
OMIM 603287
CCDS CCDS11522
HPRD 04476
IMGT
EMBL AC018521 AF468030 AK001397 AK303536 AK303792 BC006525 CH471109 FJ224333
GenPept AAH06525 AAM76918 ACI46025 BAA91668 BAG64562 BAG64749 EAW94770 EAW94771