JAG1

JAG1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KB9, 2VJ2, 4CBZ, 4CC0, 4CC1, 4XI7, 5BO1
Identifiers
Aliases	JAG1, Jag1, ABE2, Gsfabe2, Htu, Ozz, Ser-1, AGS, AHD, AWS, CD339, HJ1, JAGL1, jagged 1, AGS1, DCHE, jagged canonical Notch ligand 1, CMT2HH
External IDs	OMIM: 601920 MGI: 1095416 HomoloGene: 180 GeneCards: JAG1
Gene location (Human)
Chr.	Chromosome 20 (human)
End	10,673,999 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	136,958,564 bp
RNA expression pattern
	Top expressed in
	right coronary artery; ; human penis; ; palpebral conjunctiva; ; urethra; ; cavity of mouth; ; vulva; ; hair follicle; ; popliteal artery; ; saphenous vein; ; vagina;
	Top expressed in
	secondary oocyte; ; external carotid artery; ; internal carotid artery; ; epidermis; ; hair follicle; ; molar; ; belly cord; ; urothelium; ; renal corpuscle; ; conjunctival fornix;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; structural molecule activity; Notch binding; protein binding; growth factor activity; phospholipid binding;
Cellular component	integral component of membrane; adherens junction; plasma membrane; apical part of cell; integral component of plasma membrane; extracellular region; apical plasma membrane; membrane;
Biological process	Notch signaling pathway; T cell mediated immunity; negative regulation of fat cell differentiation; pulmonary valve morphogenesis; glomerular visceral epithelial cell development; endocardial cushion cell development; loop of Henle development; negative regulation of neuron differentiation; distal tubule development; pulmonary artery morphogenesis; cardiac septum morphogenesis; negative regulation of cell differentiation; response to muramyl dipeptide; ciliary body morphogenesis; aorta morphogenesis; nervous system development; keratinocyte differentiation; cardiac neural crest cell development involved in outflow tract morphogenesis; neuronal stem cell population maintenance; negative regulation of stem cell differentiation; multicellular organism development; cell communication; blood vessel remodeling; inner ear auditory receptor cell differentiation; positive regulation of osteoblast differentiation; regulation of cell population proliferation; angiogenesis; nephron development; animal organ morphogenesis; cell fate determination; inner ear development; endothelial cell differentiation; camera-type eye development; myoblast differentiation; cardiac right ventricle morphogenesis; morphogenesis of an epithelial sheet; positive regulation of myeloid cell differentiation; positive regulation of Notch signaling pathway; positive regulation of transcription by RNA polymerase II; Notch signaling involved in heart development; negative regulation of endothelial cell differentiation; regulation of signaling receptor activity; negative regulation of cell-matrix adhesion; negative regulation of cell-cell adhesion; negative regulation of cell migration; hemopoiesis; aortic valve morphogenesis; cardiac epithelial to mesenchymal transition; positive regulation of cardiac epithelial to mesenchymal transition; negative regulation of Notch signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	182
	16449
	ENSG00000101384
	ENSMUSG00000027276
	P78504
	Q9QXX0
	NM_000214
	NM_013822
	NP_000205
	NP_038850
	Wikidata
View/Edit Human	View/Edit Mouse

Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch Signaling Pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand) interactions take place, a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes. Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. JAG1 has also been designated as CD339 (cluster of differentiation 339).

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