JAG1
Summary: The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| jagged 1 | MIM:601920 | Ensembl:ENSG00000101384 | HGNC:HGNC:6188 | PA29986 | 20p12.2 |
GO terms in JAG1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | NAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | NAS | GO:0005887 | integral component of plasma membrane |
| CC | ISS | GO:0005912 | adherens junction |
| CC | IMP | GO:0016020 | membrane |
| CC | TAS | GO:0016020 | membrane |
| CC | ISS | GO:0016324 | apical plasma membrane |
| BP | NAS | GO:0001525 | angiogenesis |
| BP | NAS | GO:0001709 | cell fate determination |
| BP | IDA | GO:0001953 | negative regulation of cell-matrix adhesion |
| BP | IEA | GO:0001974 | blood vessel remodeling |
| BP | IEA | GO:0002011 | morphogenesis of an epithelial sheet |
| BP | IMP | GO:0002456 | T cell mediated immunity |
| BP | NAS | GO:0003180 | aortic valve morphogenesis |
| BP | IMP | GO:0003184 | pulmonary valve morphogenesis |
| BP | ISS | GO:0003215 | cardiac right ventricle morphogenesis |
| BP | IMP | GO:0007219 | Notch signaling pathway |
| BP | NAS | GO:0007219 | Notch signaling pathway |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | NAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | IDA | GO:0022408 | negative regulation of cell-cell adhesion |
| BP | NAS | GO:0030097 | hemopoiesis |
| BP | NAS | GO:0030216 | keratinocyte differentiation |
| BP | IDA | GO:0030336 | negative regulation of cell migration |
| BP | IEA | GO:0032495 | response to muramyl dipeptide |
| BP | ISS | GO:0035909 | aorta morphogenesis |
| BP | NAS | GO:0042127 | regulation of cell proliferation |
| BP | IEA | GO:0042491 | inner ear auditory receptor cell differentiation |
| BP | NAS | GO:0045445 | myoblast differentiation |
| BP | NAS | GO:0045446 | endothelial cell differentiation |
| BP | IEA | GO:0045599 | negative regulation of fat cell differentiation |
| BP | IEA | GO:0045602 | negative regulation of endothelial cell differentiation |
| BP | IEA | GO:0045639 | positive regulation of myeloid cell differentiation |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | IEA | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | ISS | GO:0045747 | positive regulation of Notch signaling pathway |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0060317 | cardiac epithelial to mesenchymal transition |
| BP | ISS | GO:0060411 | cardiac septum morphogenesis |
| BP | IEA | GO:0061073 | ciliary body morphogenesis |
| BP | IMP | GO:0061156 | pulmonary artery morphogenesis |
| BP | ISS | GO:0061309 | cardiac neural crest cell development involved in outflow tract morphogenesis |
| BP | IC | GO:0061314 | Notch signaling involved in heart development |
| BP | IMP | GO:0061314 | Notch signaling involved in heart development |
| BP | ISS | GO:0061444 | endocardial cushion cell development |
| BP | ISS | GO:0072006 | nephron development |
| BP | ISS | GO:0072015 | glomerular visceral epithelial cell development |
| BP | IEA | GO:0072017 | distal tubule development |
| BP | IEA | GO:0072070 | loop of Henle development |
| BP | IEP | GO:0097150 | neuronal stem cell population maintenance |
| BP | IMP | GO:2000737 | negative regulation of stem cell differentiation |
| MF | IPI | GO:0005112 | Notch binding |
| MF | NAS | GO:0005112 | Notch binding |
| MF | NAS | GO:0005198 | structural molecule activity |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IMP | GO:0005543 | phospholipid binding |
| MF | NAS | GO:0008083 | growth factor activity |
Gene expression in normal tissue: JAG1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in JAG1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-2122948 | Activated NOTCH1 Transmits Signal to the Nucleus |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| reactome | R-HSA-2644603 | Signaling by NOTCH1 in Cancer |
| reactome | R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| reactome | R-HSA-2660825 | Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
| reactome | R-HSA-2660826 | Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant |
| reactome | R-HSA-2691230 | Signaling by NOTCH1 HD Domain Mutants in Cancer |
| reactome | R-HSA-2691232 | Constitutive Signaling by NOTCH1 HD Domain Mutants |
| reactome | R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| reactome | R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| reactome | R-HSA-2979096 | NOTCH2 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8941856 | RUNX3 regulates NOTCH signaling |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013700 | NOTCH4 Activation and Transmission of Signal to the Nucleus |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP3413 | NOTCH1 regulation of human endothelial cell calcification |
| wikipathways | WP3678 | Amplification and Expansion of Oncogenic Pathways as Metastatic Traits |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
| wikipathways | WP3969 | H19 action Rb-E2F1 signaling and CDK-?-catenin activity |
| wikipathways | WP4107 | Transcriptional regulation by RUNX3 |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP4242 | Notch Signaling Pathway |
| wikipathways | WP61 | Notch Signaling Pathway |
| netpath | Pathway_Notch | Notch |
| pid | notch_pathway | Notch signaling pathway |
| pid | tap63pathway | Validated transcriptional targets of TAp63 isoforms |
| kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa04371 | Apelin signaling pathway - Homo sapiens (human) |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa04668 | TNF signaling pathway - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD123 | Isoevodiamine | 6 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD446 | LY 2183240 | 7 |
| iGMDRD193 | Fqi1 | 4 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD639 | YK 4-279 | 3 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD486 | Tosedostat | 3 |
| iGMDRD151 | CHM-1 | 4 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD263 | AACOCF3 | 3 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD64 | Parbendazole | 6 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD730 | Kahalalide F | 3 |
| iGMDRD100 | Zebularine | 1 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD705 | Nakiterpiosin | 6 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD158 | NSC141540 | 6 |
| iGMDRD202 | Curcumin | 3 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD255 | SB225002 | 5 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in JAG1

