Gene
nus1
- ID
- ZDB-GENE-040718-48
- Name
- NUS1 dehydrodolichyl diphosphate synthase subunit
- Symbol
- nus1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 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 intracellular cholesterol transport; sprouting angiogenesis; and swimming behavior. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of dehydrodolichyl diphosphate synthase complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in blastomere; brain; notochord; and trunk. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 55 and congenital disorder of glycosylation Iaa. Orthologous to human NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Zhao et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa9491 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 1 of 1
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-nus1 | N/A | (2) |
| MO2-nus1 | N/A | Zhao et al., 2010 |
| MO3-nus1 | N/A | Zhao et al., 2010 |
1 - 3 of 3
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 55 | Alliance | Intellectual developmental disorder, autosomal dominant 55, with seizures | 617831 |
| congenital disorder of glycosylation Iaa | Alliance | ?Congenital disorder of glycosylation, type 1aa | 617082 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Decaprenyl diphosphate synthase-like | Decaprenyl diphosphate synthase-like superfamily | Dehydrodolichyl diphosphate synthase complex subunit Nus1 |
|---|---|---|---|---|---|
| UniProtKB:Q6DHR8 | InterPro | 274 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-102B16 | ZFIN Curated Data | |
| Contained in | BAC | CH211-197O9 | ZFIN Curated Data | |
| Encodes | EST | fc21g03 | ||
| Encodes | cDNA | MGC:92136 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002356 (1) | 1289 nt | ||
| Genomic | GenBank:CU138502 (2) | 158947 nt | ||
| Polypeptide | UniProtKB:Q6DHR8 (1) | 274 aa |
- Yu, S.H., Wang, T., Wiggins, K., Louie, R.J., Merino, E.F., Skinner, C., Cassera, M.B., Meagher, K., Goldberg, P., Rismanchi, N., Chen, D., Lyons, M.J., Flanagan-Steet, H., Steet, R. (2021) Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):1305-1314
- 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
- Park, E. J., Grabińska, K. A., Guan, Z., Stránecký, V., Hartmannová, H., Hodaňová, K., Barešová, V., Sovová, J., Jozsef, L., Ondrušková, N., Hansíková, H., Honzík, T., Zeman, J., Hůlková, H., Wen, R., Kmoch, S., Sessa, W. C. (2014) Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.. Cell Metabolism. 20(3):448-457
- Zhao, B., Chun, C., Liu, Z., Horswill, M.A., Pramanik, K., Wilkinson, G.A., Ramchandran, R., and Miao, R.Q. (2010) Nogo-B receptor is essential for angiogenesis in zebrafish via Akt pathway. Blood. 116(24):5423-5433
- 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
1 - 5 of 5
Show