Gene
dph5
- ID
- ZDB-GENE-041114-85
- Name
- diphthamide biosynthesis 5
- Symbol
- dph5 Nomenclature History
- Previous Names
-
- zgc:101823
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable diphthine methyl ester synthase activity. Predicted to be involved in protein histidyl modification to diphthamide. Predicted to act upstream of or within methylation. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties. Orthologous to human DPH5 (diphthamide biosynthesis 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101823 (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 |
|---|---|---|---|---|---|
| la028405Tg | Transgenic insertion | Unknown | Unknown | DNA |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | Alliance | Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 620070 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000878 | Tetrapyrrole methylase |
| Family | IPR004551 | Diphthine synthase |
| Homologous_superfamily | IPR014776 | Tetrapyrrole methylase, subdomain 2 |
| Homologous_superfamily | IPR014777 | Tetrapyrrole methylase, subdomain 1 |
| Homologous_superfamily | IPR035996 | Tetrapyrrole methylase superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Diphthine synthase | Tetrapyrrole methylase | Tetrapyrrole methylase, subdomain 1 | Tetrapyrrole methylase, subdomain 2 | Tetrapyrrole methylase superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0R4IU56 | InterPro | 288 |
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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 | CH211-190N7 | ZFIN Curated Data | |
| Contained in | BAC | CH211-270E10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:101823 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007386 (1) | 1488 nt | ||
| Genomic | GenBank:BX908733 (2) | 134155 nt | ||
| Polypeptide | UniProtKB:A0A0R4IU56 (1) | 288 aa |
- Li, X., Yang, S., Zhang, X., Zhang, Y., Zhang, Y., Li, H. (2024) Bioinformatic Analysis of Roquin Family Reveals Their Potential Role in Immune System. International Journal of Molecular Sciences. 25(11):
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- 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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