Aliases for JAG1 Gene
External Ids for JAG1 Gene
Previous HGNC Symbols for JAG1 Gene
Previous GeneCards Identifiers for JAG1 Gene
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
GeneCards Summary for JAG1 Gene
JAG1 (Jagged Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with JAG1 include Alagille Syndrome 1 and Deafness, Congenital Heart Defects, And Posterior Embryotoxon. Among its related pathways are Signaling by GPCR and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is JAG2.
UniProtKB/Swiss-Prot Summary for JAG1 Gene
Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).