NOTCH1
Summary: This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namenotch 1 OMIM IDMIM:190198 Ensembl IDEnsembl:ENSG00000148400 HGNC IDHGNC:HGNC:7881 PHARMGKB IDPA31683 Map Location9q34.3 | |||||
GO terms in NOTCH1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001708 | cell fate specification |
| BP | ISS | GO:0001837 | epithelial to mesenchymal transition |
| BP | IEA | GO:0001889 | liver development |
| BP | ISS | GO:0001947 | heart looping |
Gene expression in normal tissue: NOTCH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NOTCH1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1591 | Heart Development |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP2361 | Gastric Cancer Network 1 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NOTCH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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