Gene
nf1b
- ID
- ZDB-GENE-091111-4
- Name
- neurofibromin 1b
- Symbol
- nf1b Nomenclature History
- Previous Names
-
- si:dkey-15g19.1
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including circulatory system development; learning or memory; and negative regulation of ERK1 and ERK2 cascade. Is expressed in cardiovascular system; central nervous system; and head. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- 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 |
|---|---|---|---|---|---|
| p303 | Allele with one delins | Exon 17 | Frameshift, Premature Stop | zinc finger nuclease | |
| p304 | Allele with one delins | Exon 17 | Exon Loss, Premature Stop | zinc finger nuclease | |
| sa16515 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21786 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27657 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27658 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34960 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41713 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-nf1b | Yin et al., 2015 | |
| CRISPR2-nf1b | (2) | |
| MO1-nf1b | N/A | Padmanabhan et al., 2009 |
| MO2-nf1b | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| juvenile myelomonocytic leukemia | Alliance | Leukemia, juvenile myelomonocytic | 607785 |
| neurofibromatosis 1 | Alliance | Neurofibromatosis, type 1 | 162200 |
| neurofibromatosis-Noonan syndrome | Alliance | Neurofibromatosis-Noonan syndrome | 601321 |
| spinal neurofibromatosis | Alliance | Neurofibromatosis, familial spinal | 162210 |
| Watson syndrome | Alliance | Watson syndrome | 193520 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023152 | Ras GTPase-activating protein, conserved site |
| Domain | IPR001251 | CRAL-TRIO lipid binding domain |
| Domain | IPR001936 | Ras GTPase-activating domain |
| Domain | IPR054071 | Neurofibromin, PH domain-like |
| Family | IPR039360 | Ras GTPase-activating protein |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-type fold | CRAL-TRIO lipid binding domain | CRAL-TRIO lipid binding domain superfamily | Neurofibromin, PH domain-like | PH-like domain superfamily | Ras GTPase-activating domain | Ras GTPase-activating protein | Ras GTPase-activating protein, conserved site | Rho GTPase activation protein |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BH35 | InterPro | 2738 | |||||||||
| UniProtKB:E7FFY1 | InterPro | 2759 |
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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 | CH73-19D19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-15G19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-174L22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005169189 (1) | 10011 nt | ||
| Genomic | GenBank:CT573181 (1) | 143897 nt | ||
| Polypeptide | UniProtKB:E7FFY1 (1) | 2759 aa |
- Weiss, J.M., Hunter, M.V., Cruz, N.M., Baggiolini, A., Tagore, M., Ma, Y., Misale, S., Marasco, M., Simon-Vermot, T., Campbell, N.R., Newell, F., Wilmott, J.S., Johansson, P.A., Thompson, J.F., Long, G.V., Pearson, J.V., Mann, G.J., Scolyer, R.A., Waddell, N., Montal, E.D., Huang, T.H., Jonsson, P., Donoghue, M.T.A., Harris, C.C., Taylor, B.S., Xu, T., Chaligné, R., Shliaha, P.V., Hendrickson, R., Jungbluth, A.A., Lezcano, C., Koche, R., Studer, L., Ariyan, C.E., Solit, D.B., Wolchok, J.D., Merghoub, T., Rosen, N., Hayward, N.K., White, R.M. (2022) Anatomic position determines oncogenic specificity in melanoma. Nature. 604(7905):354-361
- Xu, B., Kucenas, S., Zong, H. (2022) zMADM (zebrafish mosaic analysis with double markers) for single-cell gene knockout and dual-lineage tracing. Proceedings of the National Academy of Sciences of the United States of America. 119(9)
- He, S., Zimmerman, M.W., Layden, H.M., Berezovskaya, A., Etchin, J., Martel, M.W., Thurston, G., Jing, C.B., van Rooijen, E., Kaufman, C.K., Rodig, S.J., Zon, L.I., Patton, E.E., Mansour, M.R., Look, A.T. (2021) Synergistic melanoma cell death mediated by inhibition of both MCL1 and BCL2 in high-risk tumors driven by NF1/PTEN loss. Oncogene. 40(38):5718-5729
- Watt, A.T., Head, B., Leonard, S.W., Tanguay, R.L., Traber, M.G. (2021) Gene Expression of CRAL_TRIO Family Proteins modulated by Vitamin E Deficiency in Zebrafish (Danio Rerio). The Journal of Nutritional Biochemistry. 97:108801
- 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
- Oppel, F., Ki, D.H., Zimmermann, M.W., Ross, K.N., Tao, T., Shi, H., He, S., Aster, J.C., Look, A.T. (2020) suz12 inactivation in p53 and nf1 deficient zebrafish accelerates the onset of MPNSTs and expands the spectrum of tumor types to include adenocarcinoma, leukemia, and soft tissue sarcoma. Disease models & mechanisms. 13(8):
- Bremer, J., Marsden, K.C., Miller, A., Granato, M. (2019) The ubiquitin ligase PHR promotes directional regrowth of spinal zebrafish axons. Communications biology. 2:195
- Ki, D.H., Oppel, F., Durbin, A.D., Look, A.T. (2019) Mechanisms underlying synergy between DNA topoisomerase I-targeted drugs and mTOR kinase inhibitors in NF1-associated malignant peripheral nerve sheath tumors. Oncogene. 38(39):6585-6598
- Oppel, F., Tao, T., Shi, H., Ross, K.N., Zimmerman, M.W., He, S., Tong, G., Aster, J.C., Look, A.T. (2019) Loss of atrx cooperates with p53-deficiency to promote the development of sarcomas and other malignancies. PLoS Genetics. 15:e1008039
- Randlett, O., Haesemeyer, M., Forkin, G., Shoenhard, H., Schier, A.F., Engert, F., Granato, M. (2019) Distributed Plasticity Drives Visual Habituation Learning in Larval Zebrafish. Current biology : CB. 29(8):1337-1345.e4
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