Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55163
Gene name Gene Name - the full gene name approved by the HGNC.
Pyridoxamine 5'-phosphate oxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNPO
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-302, PDXPO
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 neuro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894629 C>T Pathogenic Missense variant, coding sequence variant
rs104894631 T>C Pathogenic Stop lost, terminator codon variant
rs138727329 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs144362146 C>G Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant
rs146027425 C>G,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028520 hsa-miR-30a-5p Proteomics 18668040
MIRT050711 hsa-miR-18a-5p CLASH 23622248
MIRT720170 hsa-miR-4770 HITS-CLIP 19536157
MIRT720169 hsa-miR-143-3p HITS-CLIP 19536157
MIRT720168 hsa-miR-6088 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004733 Function Pyridoxamine-phosphate oxidase activity IBA 21873635
GO:0004733 Function Pyridoxamine-phosphate oxidase activity IDA 12824491
GO:0005515 Function Protein binding IPI 25910212, 32296183
GO:0005829 Component Cytosol TAS
GO:0008615 Process Pyridoxine biosynthetic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603287 30260 ENSG00000108439
Protein
UniProt ID Q9NVS9
Protein name Pyridoxine-5'-phosphate oxidase (EC 1.4.3.5) (Pyridoxamine-phosphate oxidase)
Protein function Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).
PDB 1NRG , 3HY8 , 6H00 , 8QYT , 8QYW , 8ROS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01243 Putative_PNPOx 59 153 Domain
PF10590 PNP_phzG_C 206 261 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in liver, brain, lung, prostate and stomach (at protein level). {ECO:0000269|PubMed:15182361}.
Sequence
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVK
QFAAWFEEAVQCPDIGEANAMCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKE
LDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEE
AECYFHSRPKSSQIGAVVSHQSSVIPD
REYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGD
SPLGPMTHRGEEDWLYERLAP
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vitamin B6 metabolism
Metabolic pathways
Biosynthesis of cofactors
  Vitamins B6 activation to pyridoxal phosphate
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
15772097
Epileptic encephalopathy Encephalopathies, Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Pyridoxal Phosphate-Responsive Seizures pyridoxal phosphate-responsive seizures GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 24645144
Anemia Associate 28985901
Brain Diseases Associate 28133863, 28985901, 32788630
Epilepsy Associate 24645144, 34769443
Epilepsy Benign Neonatal Associate 38284493
Epilepsy Generalized Associate 24645144
Epstein Barr Virus Infections Stimulate 23534755
Hypothyroidism Associate 39185088
Infant Newborn Diseases Associate 19759001, 34769443
Infertility Associate 24645144