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. 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
- 98 figures from 75 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b420 | Allele with one point mutation | Unknown | Unknown | not specified | |
| b638 | unknown | Unknown | Unknown | ENU | |
| bns135 | Allele with one deletion | Exon 11 | Frameshift, Premature Stop | TALEN | |
| hi3263Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| hzm17 | Allele with one delins | Unknown | Unknown | CRISPR | |
| hzm18 | Allele with one delins | Unknown | Unknown | CRISPR | |
| ion34h | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| notch1a_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| p48egcq | unknown | Unknown | Unknown | ENU | |
| p76emcf | unknown | Unknown | Unknown | ENU |
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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:P46530 | InterPro | 2437 | |||||||||||||||||
| UniProtKB:A0AB32T7K5 | InterPro | 2230 |
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| 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 |
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Interactions and Pathways
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(5xUAS-E1B:6xMYC-notch1a) |
|
| 1 | (137) | |
| Tg(4xUAS:notch1a-2A-RFP) |
| 1 | Gu et al., 2019 | ||
| Tg(hsp70l:LOXP-mCherry-STOP-LOXP-6xMYC-notch1a,emGFP) |
| 1 | (3) | ||
| Tg(hsp70l:LOXP-STOP-LOXP-notch1a-HA,cryaa:CFP) |
| 1 | Chen et al., 2021 | ||
| Tg(hsp70l:MYC-notch1a,cryaa:Cerulean) |
|
| 1 | (5) | |
| Tg(hsp70l:notch1a-EGFP) |
|
| 1 | (2) | |
| Tg(hsp70l:notch1a-HA,cryaa:CFP) |
| 1 | Chen et al., 2021 | ||
| Tg(kdrl:TETA-Hsa.H2BC11-mScarlet-2A-notch1a) |
| 1 | Zi et al., 2024 | ||
| Tg(mitfa:NLS-Venus-2A-notch1a) |
| 1 | Eom et al., 2015 | ||
| Tg(mitfa:notch1a) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-286L20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-102G19 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-196N20 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-249F6 | ZFIN Curated Data | |
| Encodes | EST | fc01e02 | ||
| Encodes | EST | fc37a05 |
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| 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 |
- Chávez, M.N., Arora, P., Meer, M., Marques, I.J., Ernst, A., Morales Castro, R.A., Mercader, N. (2024) Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling. iScience. 27:111406111406
- 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
- Dai, C., Zhang, Y., Gong, Y., Bradley, A., Tang, Z., Sellick, K., Shrestha, S., Spears, E., Covington, B.A., Stanley, J., Jenkins, R., Richardson, T.M., Brantley, R.A., Coate, K., Saunders, D.C., Wright, J.J., Brissova, M., Dean, E.D., Powers, A.C., Chen, W. (2024) Hyperaminoacidemia from interrupted glucagon signaling increases pancreatic acinar cell proliferation and size via mTORC1 and YAP pathways. iScience. 27:111447111447
- 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
- Kalyn, M., Garvey, R., Lee, H., Mbesha, H.A., Curry, J., Saxena, V., Mennigen, J.A., Ekker, M. (2024) Differential roles of NR4A2 (NURR1) paralogs in the brain and behavior of zebrafish. Journal of neurochemistry. :
- 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):
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