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
- 96 figures from 73 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 | IPR050906 | Notch signaling pathway |
| 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 | 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, C-terminal | Notch domain | Notch-like domain superfamily | Notch, NOD domain | Notch, NODP domain | Notch signaling pathway |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:P46530
|
2437 |
| 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