Gene
dhdds
- ID
- ZDB-GENE-040426-2236
- Name
- dehydrodolichyl diphosphate synthase
- Symbol
- dhdds Nomenclature History
- Previous Names
-
- wu:fd56c06
- zgc:77088 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable transferase activity, transferring alkyl or aryl (other than methyl) groups. Predicted to contribute to ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity. Acts upstream of or within detection of light stimulus involved in visual perception and eye photoreceptor cell development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of dehydrodolichyl diphosphate synthase complex. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in developmental delay and seizures with or without movement abnormalities and retinitis pigmentosa 59. Orthologous to human DHDDS (dehydrodolichyl diphosphate synthase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908888 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zuchner et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental delay and seizures with or without movement abnormalities | Alliance | Developmental delay and seizures with or without movement abnormalities | 617836 |
| retinitis pigmentosa 59 | Alliance | Retinitis pigmentosa 59 | 613861 |
| retinitis pigmentosa 59 | Alliance | ?Congenital disorder of glycosylation, type 1bb | 613861 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Decaprenyl diphosphate synthase-like | Decaprenyl diphosphate synthase-like superfamily | Di-trans-poly-cis-decaprenylcistransferase-like, conserved site |
|---|---|---|---|---|---|
| UniProtKB:Q6NXA2 | InterPro | 335 |
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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 | CH73-52F24 | ZFIN Curated Data | |
| Contained in | BAC | CH211-119N15 | ZFIN Curated Data | |
| Encodes | EST | fd56c06 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6908888 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:77088 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213187 (1) | 1239 nt | ||
| Genomic | GenBank:CR762469 | 147698 nt | ||
| Polypeptide | UniProtKB:Q6NXA2 (1) | 335 aa |
- DeRossi, C., Vacaru, A., Rafiq, R., Cinaroglu, A., Imrie, D., Nayar, S., Baryshnikova, A., Milev, M.P., Stanga, D., Kadakia, D., Gao, N., Chu, J., Freeze, H.H., Lehrman, M.A., Sacher, M., Sadler, K.C. (2016) trappc11 is required for protein glycosylation in zebrafish and humans. Molecular biology of the cell. 27(8):1220-34
- 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
- Zuchner, S., Dallman, J., Wen, R., Beecham, G., Naj, A., Farooq, A., Kohli, M.A., Whitehead, P.L., Hulme, W., Konidari, I., Edwards, Y.J., Cai, G., Peter, I., Seo, D., Buxbaum, J.D., Haines, J.L., Blanton, S., Young, J., Alfonso, E., Vance, J.M., Lam, B.L., and Periak-Vance, M.A. (2011) Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa. American journal of human genetics. 88(2):201-206
- Hu, M.C., Gong, H.Y., Lin, G.H., Hu, S.Y., Chen, M.H., Huang, S.J., Liao, C.F., and Wu, J.L. (2007) XBP-1, a key regulator of unfolded protein response, activates transcription of IGF1 and Akt phosphorylation in zebrafish embryonic cell line. Biochemical and Biophysical Research Communications. 359(3):778-783
- 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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