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 a human homolog of the Drosophilia jagged receptor notch. 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, Jul 2008]
GeneCards Summary for JAG1 Gene
JAG1 (Jagged 1) is a Protein Coding gene. Diseases associated with JAG1 include Alagille Syndrome 1 and Tetralogy Of Fallot. Among its related pathways are Signaling by NOTCH1 and Primary Focal Segmental Glomerulosclerosis FSGS. 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 for JAG1 Gene
Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. 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).