Gene
spra
- ID
- ZDB-GENE-050522-412
- Name
- sepiapterin reductase a
- Symbol
- spra Nomenclature History
- Previous Names
-
- spr
- fj86h06
- wu:fj86h06
- zgc:112298
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable sepiapterin reductase (NADP+) activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm. Is expressed in diencephalon; melanocyte; midbrain hindbrain boundary; and presumptive neural retina. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Orthologous to human SPR (sepiapterin reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112298 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| sepiapterin reductase deficiency | Alliance | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | 612716 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Biopterin synthesis and organic compound reduction | NAD(P)-binding domain superfamily | Sepiapterin reductase | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|---|---|
| UniProtKB:F1QWX4 | InterPro | 261 |
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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 | CH73-64K8 | ZFIN Curated Data | |
| Encodes | EST | fj86h06 | ||
| Encodes | cDNA | MGC:112298 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001024430 (1) | 2624 nt | ||
| Genomic | GenBank:CU929062 (2) | 111698 nt | ||
| Polypeptide | UniProtKB:F1QWX4 (1) | 261 aa |
- 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
- Hurem, S., Martín, L.M., Lindeman, L., Brede, D.A., Salbu, B., Lyche, J.L., Aleström, P., Kamstra, J.H. (2017) Parental exposure to gamma radiation causes progressively altered transcriptomes linked to adverse effects in zebrafish offspring. Environmental pollution (Barking, Essex : 1987). 234:855-863
- Seberg, H.E., Van Otterloo, E., Loftus, S.K., Liu, H., Bonde, G., Sompallae, R., Gildea, D.E., Santana, J.F., Manak, J.R., Pavan, W.J., Williams, T., Cornell, R.A. (2017) TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genetics. 13:e1006636
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Braasch, I., Brunet, F., Volff, J.N., and Schartl, M. (2009) Pigmentation pathway evolution after whole-genome duplication in fish. Genome biology and evolution. 1:479-493
- Braasch, I., Schartl, M., and Volff, J.N. (2007) Evolution of pigment synthesis pathways by gene and genome duplication in fish. BMC Evolutionary Biology. 7(1):74
- Ettl, A.K., Holzschuh, J., and Driever, W. (2006) The zebrafish mutation m865 affects formation of dopaminergic neurons and neuronal survival, and maps to a genetic interval containing the sepiapterin reductase locus. Anatomy and embryology. 211(7):73-86
- 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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