ID:JAG1_HUMAN DESCRIPTION: RecName: Full=Protein jagged-1; Short=Jagged1; Short=hJ1; AltName: CD_antigen=CD339; Flags: Precursor; 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). SUBUNIT: Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. 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. 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. DOMAIN: The second EGF-like domain is atypical. DISEASE: Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically 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. DISEASE: Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is 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. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent. SIMILARITY: Contains 1 DSL domain. SIMILARITY: Contains 16 EGF-like domains. SEQUENCE CAUTION: Sequence=AAC51323.1; Type=Frameshift; Positions=1187; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JAG1ID41029ch20p12.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JAG1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P78504
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AF003837 - Homo sapiens Jagged1 (JAG1) mRNA, complete cds. U77720 - Human transmembrane protein Jagged mRNA, partial cds. AK302554 - Homo sapiens cDNA FLJ51576 complete cds, highly similar to Jagged-1 precursor. JD524294 - Sequence 505318 from Patent EP1572962. JD114583 - Sequence 95607 from Patent EP1572962. JD040759 - Sequence 21783 from Patent EP1572962. JD154698 - Sequence 135722 from Patent EP1572962. JD073670 - Sequence 54694 from Patent EP1572962. JD378487 - Sequence 359511 from Patent EP1572962. JD052821 - Sequence 33845 from Patent EP1572962. JD040532 - Sequence 21556 from Patent EP1572962. U73936 - Homo sapiens Jagged 1 (HJ1) mRNA, complete cds. AF028593 - Homo sapiens transmembrane protein Jagged 1 (HJ1) mRNA, complete cds. U77914 - Human soluble protein Jagged mRNA, partial cds. BC098393 - Homo sapiens jagged 1 (Alagille syndrome), mRNA (cDNA clone MGC:104644 IMAGE:30528888), complete cds. JD549556 - Sequence 530580 from Patent EP1572962. JD240287 - Sequence 221311 from Patent EP1572962. JD316262 - Sequence 297286 from Patent EP1572962. JD238621 - Sequence 219645 from Patent EP1572962. JD214328 - Sequence 195352 from Patent EP1572962. JD075016 - Sequence 56040 from Patent EP1572962. U61276 - Human transmembrane protein Jagged 1 (HJ1) mRNA, complete cds. JD303069 - Sequence 284093 from Patent EP1572962. JD313227 - Sequence 294251 from Patent EP1572962. JD439940 - Sequence 420964 from Patent EP1572962. JD470699 - Sequence 451723 from Patent EP1572962. JD252461 - Sequence 233485 from Patent EP1572962. JD478812 - Sequence 459836 from Patent EP1572962. JD040278 - Sequence 21302 from Patent EP1572962. JD454760 - Sequence 435784 from Patent EP1572962. JD128542 - Sequence 109566 from Patent EP1572962. JD486666 - Sequence 467690 from Patent EP1572962. BC126205 - Homo sapiens jagged 1 (Alagille syndrome), mRNA (cDNA clone MGC:161483 IMAGE:8991921), complete cds. BC126207 - Homo sapiens jagged 1 (Alagille syndrome), mRNA (cDNA clone MGC:161485 IMAGE:8991923), complete cds. JD533515 - Sequence 514539 from Patent EP1572962. JD406125 - Sequence 387149 from Patent EP1572962. AK312722 - Homo sapiens cDNA, FLJ93126, highly similar to Homo sapiens jagged 1 (Alagille syndrome) (JAG1), mRNA. HQ258535 - Synthetic construct Homo sapiens clone IMAGE:100072964 jagged 1 (Alagille syndrome) (JAG1) gene, encodes complete protein. Z50166 - H.sapiens partial mRNA; single read (clone A33111). JD186737 - Sequence 167761 from Patent EP1572962. BC028007 - Homo sapiens, clone IMAGE:5212818, mRNA. JD442050 - Sequence 423074 from Patent EP1572962. JD297505 - Sequence 278529 from Patent EP1572962. MA864845 - JP 2018538288-A/2: COMPOSITIONS AND METHODS FOR TREATMENT OF ALAGILLE SYNDROME.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_ptdinsPathway - Phosphoinositides and their downstream targets.
Reactome (by CSHL, EBI, and GO)
Protein P78504 (Reactome details) participates in the following event(s):
R-HSA-157100 NOTCH3 binds JAG1 R-HSA-1980042 NOTCH1 binds JAG1 R-HSA-1980056 JAG1 binds NOTCH2 R-HSA-2691226 NOTCH1 HD domain mutants bind JAG1 R-HSA-2768999 NOTCH1 PEST domain mutants bind JAG1 R-HSA-2900743 NOTCH1 HD+PEST domain mutants bind JAG1 R-HSA-157633 Notch 4 heterodimer binds with a Notch ligand in the extracellular space R-HSA-1980138 NOTCH1 binds DLL/JAG ligand in cis R-HSA-1980074 Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 R-HSA-9013069 Ubiquitination of DLL/JAG ligands upon binding to NOTCH3 R-HSA-2172172 Ubiquitination of DLL/JAG ligands upon binding to NOTCH2 R-HSA-2737728 Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD domain mutants R-HSA-2769007 Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 PEST domain mutants R-HSA-2900765 Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD+PEST domain mutants R-HSA-157649 Notch 4-ligand complex is cleaved to produce NEXT4 R-HSA-157629 NOTCH2-ligand complex is cleaved to produce NEXT2 R-HSA-9013284 NOTCH3-ligand complex is cleaved to produce NEXT3 R-HSA-157632 Complex of NOTCH1 with its ligand is cleaved to produce NEXT1 R-HSA-2220944 ADAM10/17 cleaves ligand-bound NOTCH1 PEST domain mutants to produce NEXT1 PEST domain mutants R-HSA-2730752 NOTCH1 HD domain mutants are cleaved to produce NEXT1 irrespective of ligand binding R-HSA-2220976 NOTCH1 HD+PEST domain mutants are cleaved by ADAM10/17 irrespective of ligand binding R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus R-HSA-2660826 Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants R-HSA-8941856 RUNX3 regulates NOTCH signaling R-HSA-1980150 Signaling by NOTCH4 R-HSA-9012852 Signaling by NOTCH3 R-HSA-1980143 Signaling by NOTCH1 R-HSA-1980145 Signaling by NOTCH2 R-HSA-2660825 Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant R-HSA-2691230 Signaling by NOTCH1 HD Domain Mutants in Cancer R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer R-HSA-8878159 Transcriptional regulation by RUNX3 R-HSA-156988 Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor R-HSA-157118 Signaling by NOTCH R-HSA-2644603 Signaling by NOTCH1 in Cancer R-HSA-212436 Generic Transcription Pathway R-HSA-162582 Signal Transduction R-HSA-5663202 Diseases of signal transduction R-HSA-73857 RNA Polymerase II Transcription R-HSA-1643685 Disease R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
