Entity Details

Primary name JAG1
Entity type gene
Source Source Link

Details

PrimaryID182
RefseqGeneNG_007496
SymbolJAG1
Namejagged canonical Notch ligand 1
Chromosome20
Location20p12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsJAG1_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001709 cell fate determination
GO:0001953 negative regulation of cell-matrix adhesion
GO:0001974 blood vessel remodeling
GO:0002011 morphogenesis of an epithelial sheet
GO:0002456 T cell mediated immunity
GO:0003180 aortic valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0005112 Notch binding
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0005543 phospholipid binding
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005912 adherens junction
GO:0007219 Notch signaling pathway
GO:0007399 nervous system development
GO:0008083 growth factor activity
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0022408 negative regulation of cell-cell adhesion
GO:0030097 hemopoiesis
GO:0030216 keratinocyte differentiation
GO:0030336 negative regulation of cell migration
GO:0032495 response to muramyl dipeptide
GO:0035909 aorta morphogenesis
GO:0042127 regulation of cell population proliferation
GO:0042491 inner ear auditory receptor cell differentiation
GO:0045445 myoblast differentiation
GO:0045446 endothelial cell differentiation
GO:0045599 negative regulation of fat cell differentiation
GO:0045602 negative regulation of endothelial cell differentiation
GO:0045639 positive regulation of myeloid cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0060411 cardiac septum morphogenesis
GO:0061073 ciliary body morphogenesis
GO:0061156 pulmonary artery morphogenesis
GO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis
GO:0061314 Notch signaling involved in heart development
GO:0061444 endocardial cushion cell development
GO:0062043 positive regulation of cardiac epithelial to mesenchymal transition
GO:0072006 nephron development
GO:0072015 glomerular visceral epithelial cell development
GO:0072017 distal tubule development
GO:0072070 loop of Henle development
GO:0097150 neuronal stem cell population maintenance
GO:2000737 negative regulation of stem cell differentiation

Diseases

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Disease IDSourceNameDescription
617992 OMIMDeafness, congenital heart defects, and posterior embryotoxon (DCHE)An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. The disease is caused by variants affecting the gene represented in this entry.
187500 OMIMTetralogy of Fallot (TOF)A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. The disease is caused by variants affecting the gene represented in this entry.
118450 OMIMAlagille syndrome 1 (ALGS1)A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. The disease is caused by variants affecting the gene represented in this entry.