Gene
notch1b
- ID
- ZDB-GENE-990415-183
- Name
- notch receptor 1b
- Symbol
- notch1b Nomenclature History
- Previous Names
-
- etID309871.5 (1)
- wu:fc55e11
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in Notch signaling pathway and hematopoietic stem cell differentiation. Acts upstream of or within several processes, including fin regeneration; nervous system development; and vasculature development. Predicted to be located in late endosome membrane; nucleus; and plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; hematopoietic multipotent progenitor cell; nervous system; and trunk. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome; adult T-cell leukemia/lymphoma; aortic valve disease 1; and congenital heart disease. Orthologous to human NOTCH1 (notch receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 176 figures from 119 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu523 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ion35h | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| sa1187 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11236 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26616 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26617 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| uq53bh | Allele with one point mutation | Unknown | Unknown | ENU | |
| zf2046 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zf4092 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Adams-Oliver syndrome | Alliance | Adams-Oliver syndrome 5 | 616028 |
| aortic valve disease 1 | Alliance | Aortic valve disease 1 | 109730 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | Neurogenic locus notch homolog protein 1 | Notch | NOTCH1 EGF-like calcium-binding domain | Notch and Slit guidance protein | Notch, C-terminal | Notch domain | Notch-like domain superfamily | Notch, NOD domain | Notch, NODP domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0PGH6 | InterPro | 2465 | |||||||||||||||||
| UniProtKB:A0A8M2BFY6 | InterPro | 2482 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
notch1b-201
(1)
|
Ensembl | 7,781 nt | ||
| mRNA |
notch1b-202
(1)
|
Ensembl | 7,824 nt | ||
| mRNA |
notch1b-203
(1)
|
Ensembl | 2,314 nt |
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Interactions and Pathways
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:notch1b-EGFP) |
|
| 1 | Zhou et al., 2021 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-157G20 | ||
| Contained in | BAC | RP71-31M18 | ZFIN Curated Data | |
| Encodes | EST | eu523 | Thisse et al., 2005 | |
| Encodes | EST | fc55e11 | ||
| interacts with | Enhancer | en.notch1b-15 | Chiang et al., 2017 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131302 (1) | 7797 nt | ||
| Genomic | GenBank:BX119981 (2) | 158974 nt | ||
| Polypeptide | UniProtKB:A0A8M2BFY6 (1) | 2482 aa |
- Kim, J.M., Cho, H.W., Shin, D.M., Kim, O.H., Kim, J., Lee, H., Lee, G.H., An, J.Y., Yang, M., Jo, H.S., Jang, J.H., Chang, Y.S., Park, H.Y., Park, M.H. (2025) Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing. Human genomics. 19:11
- Zhou, W., Cai, W., Li, Y., Gao, L., Liu, X., Liu, S., Lei, J., Zhang, J., Wang, Y., Jiang, Z., Wu, X., Fan, X., Li, F., Zheng, L., Yuan, W. (2025) The Interaction Between the asb5a and asb5b Subtypes Jointly Regulates the L-R Asymmetrical Development of the Heart in Zebrafish. International Journal of Molecular Sciences. 26:
- Duan, W., Huang, G., Sui, Y., Wang, K., Yu, Y., Chu, X., Cao, X., Chen, L., Liu, J., Eichler, E.E., Xiong, B. (2024) Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling. Proceedings of the National Academy of Sciences of the United States of America. 121:e2404173121e2404173121
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Wang, A., Wan, X., Zhu, F., Liu, H., Song, X., Huang, Y., Zhu, L., Ao, Y., Zeng, J., Wang, B., Wu, Y., Xu, Z., Wang, J., Yao, W., Li, H., Zhuang, P., Jiao, J., Zhang, Y. (2024) Habitual Daily Intake of Fried Foods Raises Transgenerational Inheritance Risk of Heart Failure Through NOTCH1-Triggered Apoptosis. Research (Washington, D.C.). 7:04010401
- Auman, H.J., Fernandes, I.H., Berríos-Otero, C.A., Colombo, S., Yelon, D. (2023) Zebrafish smarcc1a mutants reveal requirements for BAF chromatin remodeling complexes in distinguishing the atrioventricular canal from the cardiac chambers. Developmental Dynamics : an official publication of the American Association of Anatomists. 253(1):157-172
- Cotellessa, L., Marelli, F., Duminuco, P., Adamo, M., Papadakis, G.E., Bartoloni, L., Sato, N., Lang-Muritano, M., Troendle, A., Dhillo, W.S., Morelli, A., Guarnieri, G., Pitteloud, N., Persani, L., Bonomi, M., Giacobini, P., Vezzoli, V. (2023) Defective Jagged1 signaling impacts GnRH development and contributes to congenital hypogonadotropic hypogonadism. JCI insight. 8(5):
- Gafranek, J.T., D'Aniello, E., Ravisankar, P., Thakkar, K., Vagnozzi, R.J., Lim, H.W., Salomonis, N., Waxman, J.S. (2023) Sinus venosus adaptation models prolonged cardiovascular disease and reveals insights into evolutionary transitions of the vertebrate heart. Nature communications. 14:55095509
- Grimm, L., Mason, E., Yu, H., Dudczig, S., Panara, V., Chen, T., Bower, N.I., Paterson, S., Rondon Galeano, M., Kobayashi, S., Senabouth, A., Lagendijk, A.K., Powell, J., Smith, K.A., Okuda, K.S., Koltowska, K., Hogan, B.M. (2023) Single-cell analysis of lymphatic endothelial cell fate specification and differentiation during zebrafish development. The EMBO journal. 42(11):e112590
- Liao, T., Xu, X., Wu, J., Xie, Y., Yan, J. (2023) Increased expression levels of DLX5 inhibit the development of the nervous system. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 83(8):728-739
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