Gene
pnp5b
- ID
- ZDB-GENE-040912-54
- Name
- purine nucleoside phosphorylase 5b
- Symbol
- pnp5b Nomenclature History
- Previous Names
-
- zgc:101740 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable purine-nucleoside phosphorylase activity. Predicted to act upstream of or within purine ribonucleoside salvage. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder. Orthologous to human PNP (purine nucleoside phosphorylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101740 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa19914 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018099 | Purine phosphorylase, family 2, conserved site |
| Domain | IPR000845 | Nucleoside phosphorylase domain |
| Family | IPR011268 | Purine nucleoside phosphorylase |
| Family | IPR011270 | Purine nucleoside phosphorylase I, inosine/guanosine-specific |
| Homologous_superfamily | IPR035994 | Nucleoside phosphorylase superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Nucleoside phosphorylase domain | Nucleoside phosphorylase superfamily | Purine nucleoside phosphorylase | Purine nucleoside phosphorylase I, inosine/guanosine-specific | Purine phosphorylase, family 2, conserved site |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z934 | InterPro | 193 | |||||
| UniProtKB:Q66ID4 | InterPro | 294 | |||||
| UniProtKB:A0A8M9PW07 | InterPro | 210 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-185P12 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101740 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192410 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004628 (1) | 1154 nt | ||
| Genomic | GenBank:CU856374 (2) | 37225 nt | ||
| Polypeptide | UniProtKB:Q66ID4 (1) | 294 aa |
No data available
- Myllymäki, H., Astorga Johansson, J., Grados Porro, E., Elliot, A., Moses, T., Feng, Y. (2021) Metabolic Alterations in Preneoplastic Development Revealed by Untargeted Metabolomic Analysis. Frontiers in cell and developmental biology. 9:684036
- Kimura, T., Takehana, Y., Naruse, K. (2017) pnp4a Is the Causal Gene of the Medaka Iridophore Mutant guanineless.. G3 (Bethesda). 7(4):1357-1363
- Curran, K., Lister, J.A., Kunkel, G.R., Prendergast, A., Parichy, D.M., and Raible, D.W. (2010) Interplay between Foxd3 and Mitf regulates cell fate plasticity in the zebrafish neural crest. Developmental Biology. 344(1):107-118
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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