Gene
notch3
- ID
- ZDB-GENE-000329-5
- Name
- notch receptor 3
- Symbol
- notch3 Nomenclature History
- Previous Names
-
- notch5
- fa14b08
- wu:fa14b08
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and signaling receptor activity. Involved in several processes, including animal organ development; blood vessel development; and neurogenesis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in CADASIL 1; infantile myofibromatosis; and lateral meningocele syndrome. Is expressed in several structures, including digestive system; mesoderm; nervous system; pronephros; and vasculature. Orthologous to human NOTCH3 (notch receptor 3).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 114 figures from 95 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
CADASIL 1 | Alliance | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | 125310 |
infantile myofibromatosis | Alliance | ?Myofibromatosis, infantile 2 | 615293 |
lateral meningocele syndrome | Alliance | Lateral meningocele syndrome | 130720 |
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 | IPR022331 | Neurogenic locus Notch 3 |
Family | IPR051022 | Notch Signaling and Cell Fate Determination |
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 3 | Notch | NOTCH1 EGF-like calcium-binding domain | Notch, C-terminal | Notch domain | Notch-like domain superfamily | Notch, NOD domain | Notch, NODP domain | Notch Signaling and Cell Fate Determination |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q800E4
|
2468 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
notch3-201
(1)
|
Ensembl | 7,921 nt | ||
mRNA |
notch3-202
(1)
|
Ensembl | 11,630 nt | ||
mRNA |
notch3-203
(1)
|
Ensembl | 2,521 nt |
Interactions and Pathways
Plasmids