Gene
rbck1
- ID
- ZDB-GENE-040704-3
- Name
- RanBP-type and C3HC4-type zinc finger containing 1
- Symbol
- rbck1 Nomenclature History
- Previous Names
-
- zgc:91964
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis. Is expressed in pharyngeal arch. Human ortholog(s) of this gene implicated in glycogen storage disease. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Landgraf et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Landgraf et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la014129Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la022114Tg | Transgenic insertion | Unknown | Unknown | DNA |
1 - 2 of 2
Show
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-rbck1 | N/A | Landgraf et al., 2010 |
MO2-rbck1 | N/A | Landgraf et al., 2010 |
1 - 2 of 2
Show
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Heme-oxidized IRP2 ubiquitin ligase 1, BRcat domain | Heme-oxidized IRP2 ubiquitin ligase 1, modified RING finger, HC subclass | Heme-oxidized IRP2 ubiquitin ligase 1, Rcat domain | Linear Ubiquitination-Associated E3 Ligases | TRIAD supradomain | Ubiquitin-like domain | Ubiquitin-like domain superfamily | Zinc finger, RanBP2-type | Zinc finger, RanBP2-type superfamily | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type | Zinc finger, RING-type, conserved site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q6GMF9 | InterPro | 515 |
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 | DKEY-102C8 | ZFIN Curated Data | |
Encodes | cDNA | MGC:91964 | ZFIN Curated Data | |
Encodes | cDNA | MGC:192378 | ZFIN Curated Data |
1 - 3 of 3
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002168 (1) | 2640 nt | ||
Genomic | GenBank:BX649457 (1) | 159207 nt | ||
Polypeptide | UniProtKB:Q6GMF9 (1) | 515 aa |
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- 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
- Landgraf, K., Bollig, F., Trowe, M.O., Besenbeck, B., Ebert, C., Kruspe, D., Kispert, A., Hänel, F., and Englert, C. (2010) Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Molecular and cellular biology. 30(24):5764-5775
- 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
1 - 6 of 6
Show