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Aliases for PNPO Gene

Aliases for PNPO Gene

  • Pyridoxamine 5'-Phosphate Oxidase 2
  • Pyridoxamine 5-Phosphate Oxidase 2 3 5
  • Pyridoxine 5-Phosphate Oxidase 2 3
  • Pyridoxamine-Phosphate Oxidase 3 4
  • EC 1.4.3.5 4 58
  • Epididymis Secretory Protein Li 302 3
  • Pyridoxal 5-Phosphate Synthase 3
  • Pyridoxine-5-Phosphate Oxidase 3
  • HEL-S-302 3
  • PDXPO 3

External Ids for PNPO Gene

Previous GeneCards Identifiers for PNPO Gene

  • GC17U990158
  • GC17P046361
  • GC17P046493
  • GC17P043373
  • GC17P046018
  • GC17P041387

Summaries for PNPO Gene

Entrez Gene Summary for PNPO 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 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]

GeneCards Summary for PNPO Gene

PNPO (Pyridoxamine 5'-Phosphate Oxidase) is a Protein Coding gene. Diseases associated with PNPO include Pyridoxamine 5'-Phosphate Oxidase Deficiency and Pyridoxal 5'-Phosphate-Dependent Epilepsy. Among its related pathways are Metabolism and Selenium Micronutrient Network. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-NH2 group of donors.

UniProtKB/Swiss-Prot for PNPO Gene

  • Catalyzes the oxidation of either pyridoxine 5-phosphate (PNP) or pyridoxamine 5-phosphate (PMP) into pyridoxal 5-phosphate (PLP).

Gene Wiki entry for PNPO Gene

Additional gene information for PNPO Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPO Gene

Genomics for PNPO Gene

Regulatory Elements for PNPO Gene

Enhancers for PNPO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H047964 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +25.5 25524 4.6 ELF3 MLX ARID4B RAD21 YY1 ZNF121 FOS THAP11 SP5 REST SCRN2 CDK5RAP3 PNPO PRR15L SKAP1 SP2-AS1 SP2 MIR152 COPZ2 SNX11
GH17H047970 1.4 ENCODE dbSUPER 20.4 +29.8 29817 2.1 HDGF FOXA2 PKNOX1 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 ENSG00000266601 SP2 CDK5RAP3 SCRN2 KPNB1 MRPL45P2 EFCAB13 PNPO PRR15L SP2-AS1
GH17H048001 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 +61.9 61895 4.4 HDGF ARNT ZNF133 YBX1 ZBTB7B YY1 ZNF121 ZNF766 FOS ATF7 PRR15L CALCOCO2 PNPO SP2-AS1 HOXB4 ENSG00000266601 NFE2L1 SNX11 CBX1 HOXB6
GH17H047944 1.6 Ensembl ENCODE dbSUPER 11.8 +11.5 11525 17 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SP2 SCRN2 MRPL45P2 CDK5RAP3 PRR15L COPZ2 PNPO EFCAB13 ENSG00000264701 UBE2Z
GH17H047904 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -35.6 -35618 3.2 NFIB HCFC1 HLF SIN3A RAD21 FOXA1 GATA3 POLR2A PRDM1 PRDM4 SCRN2 PNPO PRR15L OSBPL7 CDK5RAP3 LOC102724532 PIR62772 SP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PNPO on UCSC Golden Path with GeneCards custom track

Promoters for PNPO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095243 294 1201 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF416 SP3 NFYC SSRP1 ZNF610

Genomic Locations for PNPO Gene

Genomic Locations for PNPO Gene
chr17:47,941,506-47,949,308
(GRCh38/hg38)
Size:
7,803 bases
Orientation:
Plus strand
chr17:46,018,872-46,026,674
(GRCh37/hg19)

Genomic View for PNPO Gene

Genes around PNPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPO Gene

Proteins for PNPO Gene

  • Protein details for PNPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVS9-PNPO_HUMAN
    Recommended name:
    Pyridoxine-5-phosphate oxidase
    Protein Accession:
    Q9NVS9
    Secondary Accessions:
    • B4E0V0
    • B4E152
    • B4E1D7
    • D3DTT9

    Protein attributes for PNPO Gene

    Size:
    261 amino acids
    Molecular mass:
    29988 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAG64562.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PNPO Gene

    Alternative splice isoforms for PNPO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPO Gene

Selected DME Specific Peptides for PNPO Gene

Q9NVS9:
  • LYPQVMEFWQGQTNRLHDRIVFRRGL
  • RQVRVEG

Post-translational modifications for PNPO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PNPO Gene

Gene Families for PNPO Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NVS9

UniProtKB/Swiss-Prot:

PNPO_HUMAN :
  • Belongs to the pyridoxamine 5-phosphate oxidase family.
Family:
  • Belongs to the pyridoxamine 5-phosphate oxidase family.
genes like me logo Genes that share domains with PNPO: view

Function for PNPO Gene

Molecular function for PNPO Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Pyridoxamine 5-phosphate + H(2)O + O(2) = pyridoxal 5-phosphate + NH(3) + H(2)O(2).
UniProtKB/Swiss-Prot CatalyticActivity:
Pyridoxine 5-phosphate + O(2) = pyridoxal 5-phosphate + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of either pyridoxine 5-phosphate (PNP) or pyridoxamine 5-phosphate (PMP) into pyridoxal 5-phosphate (PLP).

Enzyme Numbers (IUBMB) for PNPO Gene

Phenotypes From GWAS Catalog for PNPO Gene

Gene Ontology (GO) - Molecular Function for PNPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004733 pyridoxamine-phosphate oxidase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0010181 FMN binding IDA 12824491
GO:0016491 oxidoreductase activity IEA --
GO:0016638 oxidoreductase activity, acting on the CH-NH2 group of donors IEA --
genes like me logo Genes that share ontologies with PNPO: view
genes like me logo Genes that share phenotypes with PNPO: view

Human Phenotype Ontology for PNPO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PNPO Gene

Localization for PNPO Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPO gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PNPO: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PNPO Gene

Pathways & Interactions for PNPO Gene

genes like me logo Genes that share pathways with PNPO: view

UniProtKB/Swiss-Prot Q9NVS9-PNPO_HUMAN

  • Pathway: Cofactor metabolism; pyridoxal 5-phosphate salvage; pyridoxal 5-phosphate from pyridoxamine 5-phosphate: step 1/1.
  • Pathway: Cofactor metabolism; pyridoxal 5-phosphate salvage; pyridoxal 5-phosphate from pyridoxine 5-phosphate: step 1/1.

Gene Ontology (GO) - Biological Process for PNPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008615 pyridoxine biosynthetic process IEA --
GO:0042816 vitamin B6 metabolic process TAS --
GO:0042823 pyridoxal phosphate biosynthetic process IDA 12824491
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PNPO: view

No data available for SIGNOR curated interactions for PNPO Gene

Drugs & Compounds for PNPO Gene

(12) Drugs for PNPO Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Approved Nutra 192
Pyridoxine Approved, Vet_approved Nutra 193,193
Ammonia Approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 68
Oxygen Approved, Vet_approved Pharma 0

(4) Additional Compounds for PNPO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PNPO: view

Transcripts for PNPO Gene

Unigene Clusters for PNPO Gene

Pyridoxamine 5-phosphate oxidase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPO Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: - - -
SP6: - - - - - - - -
SP7:
SP8: - - -

Relevant External Links for PNPO Gene

GeneLoc Exon Structure for
PNPO
ECgene alternative splicing isoforms for
PNPO

Expression for PNPO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNPO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNPO Gene

This gene is overexpressed in Liver (x5.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PNPO Gene



Protein tissue co-expression partners for PNPO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PNPO Gene:

PNPO

SOURCE GeneReport for Unigene cluster for PNPO Gene:

Hs.631742

Evidence on tissue expression from TISSUES for PNPO Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Thyroid gland(4.2)
  • Kidney(2.4)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPO Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • ear
  • head
  • meninges
  • neck
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • adrenal gland
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PNPO: view

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PNPO Gene

Orthologs for PNPO Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNPO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPO 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia PNPO 33 34
  • 90.42 (n)
cow
(Bos Taurus)
Mammalia PNPO 33 34
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Pnpo 33 16 34
  • 89.02 (n)
rat
(Rattus norvegicus)
Mammalia Pnpo 33
  • 88.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PNPO 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPO 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPO 33 34
  • 74.79 (n)
lizard
(Anolis carolinensis)
Reptilia PNPO 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpo 33
  • 67.11 (n)
Str.20417 33
zebrafish
(Danio rerio)
Actinopterygii pnpo 33 34
  • 64.65 (n)
Dr.14932 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002227 33
  • 54.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31472 33 34
  • 51.72 (n)
CG31473 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F57B9.1 33 34
  • 52.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR186W 33
  • 50.79 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07062g 33
  • 47.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDX3 33 34 36
  • 46.89 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08269 33
  • 50.81 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1093.02 33
  • 47.78 (n)
Species where no ortholog for PNPO was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNPO Gene

ENSEMBL:
Gene Tree for PNPO (if available)
TreeFam:
Gene Tree for PNPO (if available)

Paralogs for PNPO Gene

No data available for Paralogs for PNPO Gene

Variants for PNPO Gene

Sequence variations from dbSNP and Humsavar for PNPO Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894629 Pathogenic, Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] 47,946,681(+) ATGAC(C/T)GGATA reference, missense
rs550423482 Pathogenic, Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] 47,946,670(+) CAACC(A/G/T)CCTGC reference, missense
rs773450573 Pathogenic, Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] 47,946,682(+) TGACC(A/G)GATAG reference, missense
rs104894631 Pathogenic 47,946,780(+) CACCT(C/T)AACTC reference, stop-lost
rs148597698 Pathogenic 47,945,914(+) TGCTA(A/C)TTCCA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for PNPO Gene

Variant ID Type Subtype PubMed ID
nsv518892 CNV loss 19592680
nsv2072 CNV deletion 18451855
esv1000014 CNV deletion 20482838

Variation tolerance for PNPO Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNPO Gene

Human Gene Mutation Database (HGMD)
PNPO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPO Gene

Disorders for PNPO Gene

MalaCards: The human disease database

(9) MalaCards diseases for PNPO Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyridoxamine 5'-phosphate oxidase deficiency
  • pnpo deficiency
pyridoxal 5'-phosphate-dependent epilepsy
  • pnpo deficiency
seizure disorder
  • seizure disorders
visual epilepsy
  • epilepsy, visual
encephalopathy
  • brain diseases
- elite association - COSMIC cancer census association via MalaCards
Search PNPO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PNPO_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for PNPO

Genetic Association Database (GAD)
PNPO
Human Genome Epidemiology (HuGE) Navigator
PNPO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPO
genes like me logo Genes that share disorders with PNPO: view

No data available for Genatlas for PNPO Gene

Publications for PNPO Gene

  1. Association between PNPO and schizophrenia in the Japanese population. (PMID: 17851041) Song H … Ohmori T (Schizophrenia research 2007) 3 22 45 60
  2. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. (PMID: 15772097) Mills PB … Clayton PT (Human molecular genetics 2005) 3 4 22 60
  3. Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase. (PMID: 15182361) Kang JH … Kwon OS (European journal of biochemistry 2004) 2 3 22 60
  4. Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA. (PMID: 9601034) Ngo EO … Nutter LM (Biochemistry 1998) 2 3 22 60
  5. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. (PMID: 18485777) Khayat M … Falik-Zaccai TC (Molecular genetics and metabolism 2008) 3 22 60

Products for PNPO Gene

Sources for PNPO Gene

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