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 enable Notch binding activity. Involved in positive regulation of hematopoietic stem cell differentiation. Acts upstream of or within several processes, including hematopoietic stem cell differentiation; regulation of non-canonical NF-kappaB signal transduction; and thyroid gland development. Is active in plasma membrane. Is expressed in several structures, including digestive system; lens placode; nervous system; neural keel; and neural tube. Human ortholog(s) of this gene implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 17 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 |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | 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 | NOTCH1 EGF-like calcium-binding domain | Notch ligand, N-terminal domain | VWFC domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:B8JKQ5 | InterPro | 1253 | |||||||||||
| UniProtKB:Q90Y57 | InterPro | 1242 | |||||||||||
| UniProtKB:A0A8M2BFK4 | InterPro | 1252 |
Interactions and Pathways
Plasmids
No data available