Homo sapiens Gene: PNPO
Summary
InnateDB Gene IDBG-56439.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPO
Gene Name pyridoxamine 5'-phosphate oxidase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000108439
Encoded Proteins
pyridoxamine 5'-phosphate oxidase
pyridoxamine 5'-phosphate oxidase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:47941506-47948288
Strand Forward strand
Band q21.32
Transcripts
ENST00000225573 ENSP00000225573
ENST00000434554 ENSP00000399960
ENST00000583245 ENSP00000463520
ENST00000583599 ENSP00000463919
ENST00000585320 ENSP00000462345
ENST00000584061 ENSP00000463972
ENST00000582171 ENSP00000463994
ENST00000584806
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Vitamins B6 activation to pyridoxal phosphate pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Vitamin B6 metabolism pathway
INOH
Vitamin B6 metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.631742
RefSeq NM_018129
HUGO
OMIM
CCDS CCDS11522
HPRD 04476
IMGT
EMBL
GenPept
RNA Seq Atlas