Gene
pnpo
- ID
- ZDB-GENE-060602-2
- Name
- pyridoxamine 5'-phosphate oxidase
- Symbol
- pnpo Nomenclature History
- Previous Names
-
- im:7138360 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Enables pyridoxamine phosphate oxidase activity. Involved in carboxylic acid metabolic process; pyridoxal biosynthetic process; and swimming behavior. Is expressed in several structures, including digestive system; female organism; male organism; nervous system; and spleen. Used to study epilepsy and pyridoxamine 5'-phosphate oxidase deficiency. Human ortholog(s) of this gene implicated in pyridoxamine 5'-phosphate oxidase deficiency. Orthologous to human PNPO (pyridoxamine 5'-phosphate oxidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7138360 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pnpo | (2) | |
| CRISPR2-pnpo | (2) | |
| CRISPR3-pnpo | Griffin et al., 2021 | |
| MO1-pnpo | N/A | Chen et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pyridoxamine 5'-phosphate oxidase deficiency | Alliance | Pyridoxamine 5'-phosphate oxidase deficiency | 610090 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019740 | Pyridoxamine 5'-phosphate oxidase, conserved site |
| Domain | IPR011576 | Pyridoxamine 5'-phosphate oxidase, N-terminal |
| Domain | IPR019576 | Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal |
| Family | IPR000659 | Pyridoxamine 5'-phosphate oxidase |
| Homologous_superfamily | IPR012349 | FMN-binding split barrel |
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Domain Details Per Protein
| Protein | Additional Resources | Length | FMN-binding split barrel | Pyridoxamine 5'-phosphate oxidase | Pyridoxamine 5'-phosphate oxidase, conserved site | Pyridoxamine 5'-phosphate oxidase, N-terminal | Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1P3D4 | InterPro | 277 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-194K22 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7138360 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001256178 (1) | 2154 nt | ||
| Genomic | GenBank:BX248092 (1) | 217001 nt | ||
| Polypeptide | UniProtKB:A0A8M1P3D4 (1) | 277 aa |
- Delgadillo-Silva, L.F., Tasöz, E., Singh, S.P., Chawla, P., Georgiadou, E., Gompf, A., Rutter, G.A., Ninov, N. (2024) Optogenetic β cell interrogation in vivo reveals a functional hierarchy directing the Ca2+ response to glucose supported by vitamin B6. Science advances. 10:eado4513
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Zhang, Q., He, X., Yao, S., Lin, T., Zhang, L., Chen, D., Chen, C., Yang, Q., Li, F., Zhu, Y.M., Guan, M.X. (2021) Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency. Nucleic acids research. 49(8):4689-4704
- Chen, P.Y., Tu, H.C., Schirch, V., Safo, M.K., Fu, T.F. (2019) Pyridoxamine Supplementation Effectively Reverses the Abnormal Phenotypes of Zebrafish Larvae With PNPO Deficiency. Frontiers in pharmacology. 10:1086
- Ciapaite, J., Albersen, M., Savelberg, S.M.C., Bosma, M., Tessadori, F., Gerrits, J., Lansu, N., Zwakenberg, S., Bakkers, J.P.W., Zwartkruis, F.J.T., van Haaften, G., Jans, J.J., Verhoeven-Duif, N.M. (2019) Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations. Biochimica et biophysica acta. Molecular basis of disease. 1866(3):165607
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
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