NOTCH3
Summary: This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| notch 3 | MIM:600276 | Ensembl:ENSG00000074181 | HGNC:HGNC:7883 | PA31685 | 19p13.12 |
GO terms in NOTCH3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0019899 | enzyme binding |
| MF | IMP | GO:0038023 | signaling receptor activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | HDA | GO:0045296 | cadherin binding |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | TAS | GO:0007221 | positive regulation of transcription of Notch receptor target |
| BP | IEA | GO:0030900 | forebrain development |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | TAS | GO:0045746 | negative regulation of Notch signaling pathway |
| BP | IEA | GO:0048661 | positive regulation of smooth muscle cell proliferation |
| BP | IEA | GO:0048663 | neuron fate commitment |
| BP | IEA | GO:0048844 | artery morphogenesis |
| BP | IEA | GO:0072104 | glomerular capillary formation |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0043235 | receptor complex |
Gene expression in normal tissue: NOTCH3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NOTCH3
| 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-1912399 | Pre-NOTCH Processing in the Endoplasmic Reticulum |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912420 | Pre-NOTCH Processing in Golgi |
| reactome | R-HSA-1912420 | Pre-NOTCH Processing in Golgi |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-350054 | Notch-HLH transcription pathway |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
| reactome | R-HSA-5083630 | Defective LFNG causes SCDO3 |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| 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-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9017802 | Noncanonical activation of NOTCH3 |
| pid | notch_pathway | Notch signaling pathway |
| netpath | Pathway_Notch | Notch |
| 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 | hsa04919 | Thyroid hormone signaling pathway - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP2786 | Pre-NOTCH Expression and Processing |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP3971 | Role of Osx and miRNAs in tooth development |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP4242 | Notch Signaling Pathway |
| wikipathways | WP61 | Notch Signaling Pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD494 | Neopeltolide | 4 |
| iGMDRD781 | Sirolimus | 6 |
| iGMDRD549 | Ibrutinib (PCI-32765) | 1 |
| iGMDRD599 | Salermide | 4 |
| iGMDRD420 | Leucascandrolide A | 5 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD679 | Bistramide A | 2 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD718 | Pyrvinium pamoate | 2 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD498 | GW441756X | 1 |
| iGMDRD441 | TW 37 | 3 |
| iGMDRD318 | PAC-1 | 5 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD325 | Belinostat | 1 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD473 | GDC-0879 | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD79 | Gemcitabine | 5 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 6 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD435 | BI-2536 | 1 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD177 | Teniposide | 6 |
| iGMDRD351 | GW843682X | 4 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD105 | Triptolide | 5 |
| iGMDRD103 | SN-38 | 5 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD300 | Tozasertib | 5 |
| iGMDRD552 | AZD-1775 | 2 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD664 | Dinaciclib | 1 |
| iGMDRD871 | BRD6368 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NOTCH3
CLASSFICATION
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