PNPO
entrez
55163
canonical
uniprot
Q9NVS9
canonical
ensembl
ENSG00000108439
resolver
ensp
ENSP00000225573
resolver
ensp
ENSP00000493302
resolver
genesymbol
HEL-S-302
resolver
genesymbol
PNPO
resolver
hgnc
HGNC:30260
resolver
uniprot
B4E0V0
resolver
uniprot
B4E152
resolver
uniprot
B4E1D7
resolver
uniprot
D3DTT9
resolver
uniprot
V9HW45
resolver
uniprot_entry
PNPO_HUMAN
resolver
uniprot_entry
V9HW45_HUMAN
resolver
uniprot_sec
B4E0V0
resolver
uniprot_sec
B4E152
resolver
uniprot_sec
B4E1D7
resolver
uniprot_sec
D3DTT9
resolver
amino_acid_sequence
MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAVQCPDIGEANAMCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQVRVEGPVKKLPEEEAECYFHSRPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYVLYPQVMEFWQGQTNRLHDRIVFRRGLPTGDSPLGPMTHRGEEDWLYERLAP
uniprot
proteins
disease_involvement
DISEASE: Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [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:0000269|PubMed:15772097, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.4.3.5
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). {ECO:0000269|PubMed:12824491, ECO:0000269|PubMed:15182361, ECO:0000269|PubMed:15772097}.
uniprot
proteins
mass_dalton
29988
uniprot
proteins
mutagenesis
MUTAGEN 1..72; /note="Missing: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:15182361"; MUTAGEN 1..56; /note="Missing: Has no effect on the catalytic activity."; /evidence="ECO:0000269|PubMed:15182361"; MUTAGEN 238..261; /note="Missing: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:15182361
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1. {ECO:0000305|PubMed:12824491, ECO:0000305|PubMed:15772097}.; PATHWAY: Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1. {ECO:0000305|PubMed:12824491}.
uniprot
proteins
protein_family
Pyridoxamine 5'-phosphate oxidase family
uniprot
proteins
pubmed
12824491
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15182361
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772097
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27864847
uniprot
proteins
sequence_length
261
uniprot
proteins