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MGP000099

UniProt Annotations

Entry Information

Gene Name	jagged 1
Protein Entry	JAG1_HUMAN
UniProt ID	P78504
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P78504-1; Sequence=Displayed; Name=2; IsoId=P78504-2; Sequence=VSP_056532; Note=No experimental confirmation available.;
Developmental Stage	Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. {ECO:0000269\|PubMed:10978356}.
Disease	Alagille syndrome 1 (ALGS1) [MIM:118450]: 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. {ECO:0000269\|PubMed:10220506, ECO:0000269\|PubMed:10533065, ECO:0000269\|PubMed:11058898, ECO:0000269\|PubMed:11139247, ECO:0000269\|PubMed:11157803, ECO:0000269\|PubMed:11180599, ECO:0000269\|PubMed:12442286, ECO:0000269\|PubMed:12497640, ECO:0000269\|PubMed:15712272, ECO:0000269\|PubMed:16575836, ECO:0000269\|PubMed:23801938, ECO:0000269\|PubMed:9207788, ECO:0000269\|PubMed:9585603}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Tetralogy of Fallot (TOF) [MIM:187500]: 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. {ECO:0000269\|PubMed:11152664}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The second EGF-like domain is atypical. {ECO:0000269\|PubMed:18660822, ECO:0000269\|PubMed:19586525}.
Function	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). {ECO:0000250, ECO:0000269\|PubMed:18660822, ECO:0000269\|PubMed:9462510}.
Interaction	P15529:CD46; NbExp=5; IntAct=EBI-2847071, EBI-2623451;
Sequence Caution	Sequence=AAC51323.1; Type=Frameshift; Positions=1187; Evidence={ECO:0000305};
Similarity	Contains 16 EGF-like domains. {ECO:0000255\|PROSITE- ProRule:PRU00076}.
Similarity	Contains 1 DSL domain. {ECO:0000255\|PROSITE- ProRule:PRU00377}.
Subcellular Location	Membrane; Single-pass type I membrane protein.
Subunit	Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions). {ECO:0000250, ECO:0000269\|PubMed:18660822}.
Tissue Specificity	Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JAG1ID41029ch20p12.html";