Gene
bap1
- ID
- ZDB-GENE-050208-492
- Name
- BRCA1 associated deubiquitinase 1
- Symbol
- bap1 Nomenclature History
- Previous Names
-
- si:dkey-42i9.9
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable chromatin binding activity and cysteine-type deubiquitinase activity. Acts upstream of or within Notch signaling pathway and cranial skeletal system development. Predicted to be located in nucleus. Predicted to be part of PR-DUB complex. Predicted to be active in cytoplasm. Is expressed in nervous system; pectoral fin; and post-vent region. Human ortholog(s) of this gene implicated in basal cell carcinoma; extrahepatic bile duct adenocarcinoma; and uveal melanoma. Orthologous to human BAP1 (BRCA1 associated deubiquitinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu310 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014139Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| mit11 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| sa24086 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24087 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24088 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa29731 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31069 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39360 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bap1 | Rosello et al., 2021 | |
| MO1-bap1 | N/A | (2) |
| MO2-bap1 | N/A | Tse et al., 2009 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| uveal melanoma | Alliance | {Uveal melanoma, susceptibility to, 2} | 606661 |
| Kury-Isidor syndrome | 619762 | ||
| Tumor predisposition syndrome 1 | 614327 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001578 | Peptidase C12, ubiquitin carboxyl-terminal hydrolase |
| Domain | IPR041507 | Peptidase C12, C-terminal domain |
| Homologous_superfamily | IPR036959 | Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Papain-like cysteine peptidase superfamily | Peptidase C12, C-terminal domain | Peptidase C12, ubiquitin carboxyl-terminal hydrolase | Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A1L2G3 | InterPro | 755 | ||||
| UniProtKB:F1QJ12 | InterPro | 755 | ||||
| UniProtKB:A0A8M2BLM6 | InterPro | 754 | ||||
| UniProtKB:A0A8M2BL95 | InterPro | 754 | ||||
| UniProtKB:A0AB32TEI4 | InterPro | 753 |
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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-42I9 | ZFIN Curated Data | |
| Encodes | EST | eu310 | Thisse et al., 2005 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001163837 (1) | 3122 nt | ||
| Genomic | GenBank:BX465868 (1) | 222195 nt | ||
| Polypeptide | UniProtKB:A1L2G3 (1) | 755 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- 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:
- Tsai, S.M., Chu, K.C., Jiang, Y.J. (2020) Newly identified Gon4l/Udu-interacting proteins implicate novel functions. Scientific Reports. 10:14213
- Tse, W.K.F. (2017) Importance of deubiquitinases in zebrafish craniofacial development. Biochemical and Biophysical Research Communications. 487(4):813-819
- 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
- 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
- Tse, W.K., Eisenhaber, B., Ho, S.H., Ng, Q., Eisenhaber, F., and Jiang, Y.J. (2009) Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development. BMC Genomics. 10:637
- 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
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