Gene
rb1
- ID
- ZDB-GENE-040428-1
- Name
- retinoblastoma 1
- Symbol
- rb1 Nomenclature History
- Previous Names
-
- spc
- zgc:154147
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of with a negative effect on activation of cysteine-type endopeptidase activity involved in apoptotic process. Acts upstream of or within optic nerve development; retinal ganglion cell axon guidance; and visual perception. Predicted to be located in nucleus. Predicted to be part of Rb-E2F complex. Predicted to be active in chromatin. Is expressed in oocyte stage I; retina; and testis. Used to study cancer. Human ortholog(s) of this gene implicated in several diseases, including high grade glioma (multiple); osteosarcoma; prostate cancer; retinoblastoma (multiple); and small cell carcinoma. Orthologous to human RB1 (RB transcriptional corepressor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| is21Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| is54 | Allele with one deletion | Unknown | Unknown | TALEN | |
| is57Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| is58Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| is59Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| is63Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| sm11 | Allele with one deletion | Exon 2 | Frameshift | TALEN | |
| te226a | Allele with one point mutation | Unknown | Unknown | ENU | |
| ty85d | unknown | Unknown | Unknown | ENU | |
| zf3454a | unknown | Unknown | Unknown | not specified |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lung small cell carcinoma | Alliance | Small cell cancer of the lung, somatic | 182280 |
| osteosarcoma | Alliance | Osteosarcoma, somatic | 259500 |
| retinoblastoma | Alliance | Retinoblastoma | 180200 |
| retinoblastoma | Alliance | Retinoblastoma, trilateral | 180200 |
| urinary bladder cancer | Alliance | Bladder cancer, somatic | 109800 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cancer | WIK + TALEN3-rb1 | standard conditions | Solin et al., 2015 |
| cancer | WIK + TALEN2-rb1 | standard conditions | Solin et al., 2015 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002719 | Retinoblastoma-associated protein, B-box |
| Domain | IPR002720 | Retinoblastoma-associated protein, A-box |
| Domain | IPR015030 | Retinoblastoma-associated protein, C-terminal |
| Domain | IPR024599 | Retinoblastoma-associated protein, N-terminal |
| Family | IPR028309 | Retinoblastoma protein family |
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Domain Details Per Protein
| Protein | Length | Cyclin-like superfamily | Retinoblastoma-associated protein, A-box | Retinoblastoma-associated protein, B-box | Retinoblastoma-associated protein, C-terminal | Retinoblastoma-associated protein, N-terminal | Retinoblastoma protein family |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0JMQ4
|
903 |
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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 | CH73-285B21 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-14B8 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:154147 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:173456 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077780 (1) | 3556 nt | ||
| Genomic | GenBank:BX296544 | 168838 nt | ||
| Polypeptide | UniProtKB:A0JMQ4 (1) | 903 aa |
- Zhao, S., Mo, G., Wang, Q., Xu, J., Yu, S., Huang, Z., Liu, W., Zhang, W. (2024) Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b. Cell death discovery. 10:182182
- Horzmann, K.A., Lin, L.F., Taslakjian, B., Yuan, C., Freeman, J.L. (2022) Anxiety-related behavior and associated brain transcriptome and epigenome alterations in adult female zebrafish exposed to atrazine during embryogenesis. Chemosphere. 308(Pt 3):136431
- Liu, F., Kambakam, S., Almeida, M.P., Ming, Z., Welker, J.M., Wierson, W.A., Schultz-Rogers, L.E., Ekker, S.C., Clark, K.J., Essner, J.J., McGrail, M. (2022) Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration. eLIFE. 11:
- Schultz-Rogers, L.E., Thayer, M.L., Kambakam, S., Wierson, W.A., Helmer, J.A., Wishman, M.D., Wall, K.A., Greig, J.L., Forsman, J.L., Puchhalapalli, K., Nair, S., Weiss, T.J., Luiken, J.M., Blackburn, P.R., Ekker, S.C., Kool, M., McGrail, M. (2022) Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis. Developmental Dynamics : an official publication of the American Association of Anatomists. 251(8):1267-1290
- Chen, X., Huang, Y., Gao, P., Lv, Y., Jia, D., Sun, K., Han, Y., Hu, H., Tang, Z., Ren, X., Liu, M. (2021) Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells. Biomedicines. 9(11):
- 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:
- Gu, Q., Ali, S.F., Kanungo, J. (2020) Effects of acetyl L-carnitine on zebrafish embryos: Phenotypic and gene expression studies. Journal of applied toxicology : JAT. 41(2):256-264
- Loontiens, S., Vanhauwaert, S., Depestel, L., Dewyn, G., Van Loocke, W., Moore, F.E., Garcia, E.G., Batchelor, L., Borga, C., Squiban, B., Malone-Perez, M., Volders, P.J., Olexiouk, V., Van Vlierberghe, P., Langenau, D.M., Frazer, J.K., Durinck, K., Speleman, F. (2020) A novel TLX1-driven T-ALL zebrafish model: comparative genomic analysis with other leukemia models. Leukemia. 34(12):3398-3403
- Luo, J., Liu, P., Lu, C., Bian, W., Su, D., Zhu, C., Xie, S., Pan, Y., Li, N., Cui, W., Pei, D.S., Yang, X. (2020) Stepwise crosstalk between aberrant Nf1, Tp53 and Rb signalling pathways induces gliomagenesis in zebrafish. Brain : a journal of neurology. 144(2):615-635
- Mushtaq, M., Kovalevska, L., Darekar, S., Abramsson, A., Zetterberg, H., Kashuba, V., Klein, G., Arsenian-Henriksson, M., Kashuba, E. (2020) Cell stemness is maintained upon concurrent expression of RB and the mitochondrial ribosomal protein S18-2. Proceedings of the National Academy of Sciences of the United States of America. 117(27):15673-15683
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