Gene
jag1b
- ID
- ZDB-GENE-011128-4
- Name
- jagged canonical Notch ligand 1b
- Symbol
- jag1b Nomenclature History
- Previous Names
-
- jag3
- jagged1b
- kmi (1)
- puc
- unp1069
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have Notch binding activity. Involved in several processes, including animal organ development; face morphogenesis; and fin regeneration. Predicted to localize to integral component of membrane. Is expressed in several structures, including digestive system; endocrine system; nervous system; otic vesicle; and pharyngeal arch. Human ortholog(s) of this gene implicated in Alagille syndrome; 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
- 36 figures from 32 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 26 figures from 12 publications
- Cross-Species Comparison
- Alliance
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 | IPR050906 | Notch signaling pathway |
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 | NOTCH1 EGF-like calcium-binding domain | Notch ligand, N-terminal domain | Notch signaling pathway | VWFC domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q90Y54
|
1213 | ||||||||||||
UniProtKB:F1R986
|
1213 |
Interactions and Pathways
Plasmids
No data available