Gene
jag1a
- ID
- ZDB-GENE-011128-2
- Name
- jagged canonical Notch ligand 1a
- Symbol
- jag1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have Notch binding activity. Involved in hematopoietic stem cell differentiation and thyroid gland development. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in Alagille syndrome; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Is expressed in several structures, including digestive system; lens placode; nervous system; neural keel; and neural tube. Orthologous to human JAG1 (jagged canonical Notch ligand 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb243 (16 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alagille syndrome | Alliance | Alagille syndrome 1 | 118450 |
| tetralogy of Fallot | Alliance | Tetralogy of Fallot | 187500 |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 619574 | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | 617992 |
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 | IPR001007 | VWFC domain |
| Domain | IPR001774 | Delta/Serrate/lag-2 (DSL) protein |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR011651 | Notch ligand, N-terminal domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR026219 | Jagged/Serrate protein |
| Family | IPR051830 | Neurogenic locus notch homolog |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Delta/Serrate/lag-2 (DSL) protein | 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 | Jagged/Serrate protein | Neurogenic locus notch homolog | NOTCH1 EGF-like calcium-binding domain | Notch ligand, N-terminal domain | VWFC domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B8JKQ5
|
1253 | ||||||||||||
|
UniProtKB:Q90Y57
|
1242 | ||||||||||||
|
UniProtKB:A0A8M2BFK4
|
1252 |
Interactions and Pathways
Plasmids
No data available