JAG1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | JAG1 |
| Official Name | jagged canonical Notch ligand 1 [Source:HGNC Symbol;Acc:HGNC:6188] |
| Ensembl ID | ENSG00000101384 |
| Bio databases IDs | |
| Aliases | jagged canonical Notch ligand 1 |
| Synonyms | ABE2, AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, Gena228, Gsfabe2, HJ1, Htu, JAG, Jagged1, jagged canonical Notch ligand 1, JAGL1, Ozz, Ser-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human JAG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- extracellular domain
- N terminus of Notch ligand C2-like domain
- ectodomain
- Human growth factor-like EGF
- protein binding
- growth factor
- EGF_CA
- Delta serrate ligand
- Lin-12/Notch repeat
- von Willebrand factor type C domain
- cytoplasmic domain
- intracellular domain
- receptor agonist activity
- cytosolic tail domain
- EGF repeat
- cysteine rich domain
- notch binding
Pathways
Biological processes and signaling networks where the JAG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- experimental autoimmune encephalomyelitis
- Duchenne muscular dystrophy
- hearing loss
- cancer
- epithelial cancer
- epithelial neoplasia
- diabetic nephropathy
- collagen-induced arthritis
- primary sclerosing cholangitis
role in cell
- proliferation
- expression in
- apoptosis
- growth
- activation in
- differentiation
- phosphorylation in
- cell viability
- migration
- injury
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- intracellular compartment
- Cytoplasm
- cell surface
- intracellular space
- apical compartment
- cellular membrane
- Nucleus
- Plasma Membrane
- apical membrane
- lateral plasma membrane
- growth cone
- axons
- cell-cell adherens junctions
- sprout
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human JAG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pulmonary artery morphogenesis
- regulation of reproductive process
- response to muramyl dipeptide
- hemopoiesis
- negative regulation of cell-cell adhesion
- negative regulation of neuron differentiation
- nervous system development
- myoblast differentiation
- endothelial cell differentiation
- inhibition of neuroepithelial cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of osteoblast differentiation
- positive regulation of Notch signaling pathway
- neuronal stem cell maintenance
- loop of Henle development
- negative regulation of endothelial cell differentiation
- T cell mediated immunity
- angiogenesis
- negative regulation of stem cell differentiation
- nephron development
- regulation of epithelial cell proliferation
- cell fate determination
- neuroendocrine cell differentiation
- positive regulation of myeloid cell differentiation
- endocardial cushion cell development
- aortic valve morphogenesis
- negative regulation of fat cell differentiation
- pulmonary valve morphogenesis
- cardiac neural crest cell development involved in outflow tract morphogenesis
- morphogenesis of an epithelial sheet
- cardiac septum morphogenesis
- regulation of cell proliferation
- keratinocyte differentiation
- cardiac right ventricle morphogenesis
- aorta morphogenesis
- Notch signaling pathway
- blood vessel remodeling
- negative regulation of cell-matrix adhesion
- auditory receptor cell differentiation
- glomerular visceral epithelial cell development
- distal tubule development
- ciliary body morphogenesis
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- adherens junction
- membrane
- extracellular region
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- protein binding
- calcium ion binding
- structural molecule activity
- Notch binding
- phospholipid binding
- binding, bridging