Gene
cbl
- ID
- ZDB-GENE-041114-207
- Name
- Cbl proto-oncogene, E3 ubiquitin protein ligase
- Symbol
- cbl Nomenclature History
- Previous Names
-
- wu:fd16a12
- zgc:92560 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have SH3 domain binding activity; receptor tyrosine kinase binding activity; and ubiquitin protein ligase activity. Involved in definitive hemopoiesis. Predicted to localize to membrane raft and plasma membrane. Used to study myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in acute myeloid leukemia; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene).
- 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:92560 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
idv2 | Allele with one MNV | Exon 11 | Unknown | CRISPR | |
la012697Tg | Transgenic insertion | Unknown | Unknown | DNA | |
rj32 | Allele with one point mutation | Exon 8 | Missense | ENU | |
sa15300 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa35879 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42540 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
juvenile myelomonocytic leukemia | Alliance | ?Juvenile myelomonocytic leukemia | 607785 |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 613563 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
myeloproliferative neoplasm | cblrj32/rj32 (TU) | standard conditions | Peng et al., 2015 |
Noonan syndrome | cblidv2/idv2 | standard conditions | Rosello et al., 2021 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR017907 | Zinc finger, RING-type, conserved site |
Domain | IPR001841 | Zinc finger, RING-type |
Domain | IPR003153 | Adaptor protein Cbl, N-terminal helical |
Domain | IPR014741 | Adaptor protein Cbl, EF hand-like |
Domain | IPR014742 | Adaptor protein Cbl, SH2-like domain |
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Domain Details Per Protein
Protein | Length | Adaptor protein Cbl | Adaptor protein Cbl, EF hand-like | Adaptor protein Cbl, N-terminal domain superfamily | Adaptor protein Cbl, N-terminal helical | Adaptor protein Cbl, PTB domain | Adaptor protein Cbl, SH2-like domain | EF-hand domain pair | SH2 domain superfamily | UBA-like superfamily | Ubiquitin-associated domain | Zinc finger, C3HC4 RING-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type | Zinc finger, RING-type, conserved site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B4G4
|
912 | ||||||||||||||
UniProtKB:Q5U376
|
913 |
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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 | DKEY-257C10 | ZFIN Curated Data | |
Encodes | EST | fd16a12 | ||
Encodes | cDNA | MGC:92560 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001007330 (1) | 4023 nt | ||
Genomic | GenBank:BX571886 (1) | 178049 nt | ||
Polypeptide | UniProtKB:Q5U376 (1) | 913 aa |
- Rosello, M., Vougny, J., Czarny, F., Mione, M.C., Concordet, J.P., Albadri, S., Del Bene, F. (2021) Precise base editing for the in vivo study of developmental signaling and human pathologies in zebrafish. eLIFE. 10:
- Chen, M., Luo, Y., Xu, J., Chang, M.X., Liu, J.X. (2019) Copper Regulates the Susceptibility of Zebrafish Larvae to Inflammatory Stimuli by Controlling Neutrophil/Macrophage Survival. Frontiers in immunology. 10:2599
- 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
- Moreno-Mateos, M.A., Vejnar, C.E., Beaudoin, J.D., Fernandez, J.P., Mis, E.K., Khokha, M.K., Giraldez, A.J. (2015) CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo. Nature Methods. 12:982-8
- Peng, X., Dong, M., Ma, L., Jia, X.E., Mao, J., Jin, C., Chen, Y., Gao, L., Liu, X., Ma, K., Wang, L., Du, T., Jin, Y., Huang, Q., Li, K., Zon, L.I., Liu, T., Deng, M., Zhou, Y., Xi, X., Zhou, Y., Chen, S. (2015) A point mutation of zebrafish c-cbl gene in the ring finger domain produces a phenotype mimicking human myeloproliferative disease. Leukemia. 29(12):2355-65
- 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
- McGrail, M., Hatler, J.M., Kuang, X., Liao, H.K., Nannapaneni, K., Noack Watt, K.E., Uhl, J.D., Largaespada, D.A., Vollbrecht, E., Scheetz, T.E., Dupuy, A.J., Hostetter, J.M., and Essner, J.J. (2011) Somatic mutagenesis with a sleeping beauty transposon system leads to solid tumor formation in zebrafish. PLoS One. 6(4):e18826
- 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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