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; OMA:JAG1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.2 Start 10,637,684 bp[1] End 10,673,999 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 F3|2 Start 136,923,376 bp[2] End 136,958,564 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip gingival epithelium right coronary artery human penis palpebral conjunctiva urethra oral cavity vulva hair follicle Top expressed in secondary oocyte primary oocyte external carotid artery internal carotid artery epidermis epithelium of lens hair follicle molar belly cord neural layer of retina More reference expression data BioGPS 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 Species Human Mouse Entrez 182 16449 Ensembl ENSG00000101384 ENSMUSG00000027276 UniProt P78504 Q9QXX0 RefSeq (mRNA) NM_000214 NM_013822 RefSeq (protein) NP_000205 NP_038850 Location (UCSC) Chr 20: 10.64 – 10.67 Mb Chr 2: 136.92 – 136.96 Mb PubMed search [3] [4]
Wikidata
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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).