Gene
notch1a
- ID
- ZDB-GENE-990415-173
- Name
- notch receptor 1a
- Symbol
- notch1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable Notch binding activity. Involved in Notch signaling pathway and hematopoietic stem cell differentiation. Acts upstream of or within with a positive effect on regulation of non-canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including cell differentiation in spinal cord; chordate embryonic development; and regulation of cell fate specification. Is active in plasma membrane. Is expressed in several structures, including digestive system; fin; mesoderm; nervous system; and tail bud. 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
- 97 figures from 74 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 46 figures from 19 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR000800 | Notch domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR010660 | Notch, NOD domain |
| Domain | IPR011656 | Notch, NODP domain |
| Domain | IPR024600 | Notch, C-terminal |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR008297 | Notch |
| Family | IPR022362 | Neurogenic locus notch homolog protein 1 |
| Family | IPR051355 | Notch and Slit guidance protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR035993 | Notch-like domain superfamily |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
| Repeat | IPR002110 | Ankyrin repeat |
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:P46530 | InterPro | 2437 | |||||||||||||||||
| UniProtKB:A0AB32T7K5 | InterPro | 2230 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
notch1a-201
(1)
|
Ensembl | 248 nt | ||
| mRNA |
notch1a-202
(1)
|
Ensembl | 5,848 nt | ||
| mRNA |
notch1a-203
(1)
|
Ensembl | 7,474 nt |
Interactions and Pathways
Plasmids
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131441 (1) | 7471 nt | ||
| Genomic | GenBank:CR388125 | 126058 nt | ||
| Polypeptide | UniProtKB:P46530 (1) | 2437 aa |
- Chen, Y.C., Martins, T.A., Marchica, V., Panula, P. (2024) Angiopoietin 1 and integrin beta 1b are vital for zebrafish brain development. Frontiers in Cellular Neuroscience. 17:12897941289794
- 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
- Park, G., Foster, C.A., Malone-Perez, M., Hasan, A., Macias, J.J., Frazer, J.K. (2024) Diverse Epithelial Lymphocytes in Zebrafish Revealed Using a Novel Scale Biopsy Method. Journal of immunology (Baltimore, Md. : 1950). 213(12):1902-1914
- 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
- Zhang, C., Yang, L., Zhang, H., Wu, F., Zhang, Y., Zhang, K., Wu, C., Li, R., Dong, M., Zhao, S., Song, H. (2024) TAF1 is needed for the proliferation and maturation of thyroid follicle cells via Notch signaling. American journal of physiology. Endocrinology and metabolism. 326(6):E832-E841
- Zi, H., Peng, X., Cao, J., Xie, T., Liu, T., Li, H., Bu, J., Du, J., Li, J. (2024) Piezo1-dependent regulation of pericyte proliferation by blood flow during brain vascular development. Cell Reports. 43:113652113652
- 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):
- Kondo, M., Kimura, K., Kobayashi-Sun, J., Yamamori, S., Taniguchi, M., Traver, D., Kobayashi, I. (2023) The sinusoidal hematopoietic niche is formed by Jam1a via Notch signaling in the zebrafish kidney. iScience. 26:106508106508
- Li, H., Luo, Q., Cai, S., Tie, R., Meng, Y., Shan, W., Xu, Y., Zeng, X., Qian, P., Huang, H. (2023) Glia maturation factor-γ is required for initiation and maintenance of hematopoietic stem and progenitor cells. Stem Cell Research & Therapy. 14:117117
- Luo, L., Jia, W., Zhang, Y., Guo, Y., Zhu, J., Li, C. (2023) Proprotein Convertase Furin Regulates Melanogenesis via the Notch Signaling Pathway. Discovery medicine. 35:144156144-156
1 - 10 of 363
Show