Homo sapiens Gene: PNPO | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 17:47941506-47948288 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q21.32 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Vitamins B6 activation to pyridoxal phosphate pathway
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
Disease pathway
Metabolism of vitamins and cofactors pathway
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KEGG |
Vitamin B6 metabolism pathway
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INOH |
Vitamin B6 metabolism pathway
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PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | J3KS77 J3QQZ9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 55163 | ||||||||||||||||||
UniGene | Hs.631742 | ||||||||||||||||||
RefSeq | NM_018129 | ||||||||||||||||||
HUGO | HGNC:30260 | ||||||||||||||||||
OMIM | 603287 | ||||||||||||||||||
CCDS | CCDS11522 | ||||||||||||||||||
HPRD | 04476 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC018521 | ||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | 55163 | ||||||||||||||||||