Neurogenic Locus Notch Homolog Protein 1

Preferred Label : Neurogenic Locus Notch Homolog Protein 1;

NCIt synonyms : Translocation-Associated Notch Protein TAN-1; TAN1; Notch1 Preproprotein; NOTCH1; hN1; TAN-1; Notch Homolog 1; Notch Homolog-1 Protein;

NCIt definition : Neurogenic locus notch homolog protein 1 (2555 aa, 273 kDa) is encoded by the human NOTCH1 gene. This protein is involved in both cell-cell signaling and cell-fate determination.;

NCIt note : Neurogenic locus notch homolog protein 1 contains 36 extracellular EGF domains, 3 Lin/Notch repeats, and multiple intracellular domains, including 5 ANK repeats. Cleaved by a Golgi furin-like convertase, cell surface Notch protein is a disulfide linked N-/C-terminal heterodimeric receptor for membrane-bound Jagged1, Jagged2, Delta1, and Serrate on adjacent cells that activates an conserved intercellular signaling pathway (lateral inhibition) to regulate cell-fate determination, differentiation, proliferation, and apoptotic programs. Activated Notch cleavage by TACE and presenilin dependent gamma-secretase releases the intracellular domain to form a transcription complex with RBP-J kappa to activate enhancer of split genes. NOTCH1 interacts with DTX1 and DTX2 and may regulate thymic lymphocyte maturation.;

Details

Origin ID

C33976;

UMLS CUI

C1335068;

OMIM relation
- Notch receptor 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Receptor [UMLS semantic type]
UMLS correspondences (same concept)
- NOTCH1 protein, human [MeSH Supplementary Concept]
- NOTCH1 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- NOTCH1 Gene [NCIt concept]
- Receptor Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_biochemical_function
- Cell Surface Receptor [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_gene_product_variant
- NOTCH1 NP_060087.3:p.G1196D [NCIt concept]
- NOTCH1 NP_060087.3:p.I1718T [NCIt concept]
- NOTCH1 NP_060087.3:p.Q2503* [NCIt concept]
- NOTCH1 NP_060087.3:p.S1674F [NCIt concept]
- NOTCH1 NP_060087.3:p.S1674P [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467 Frameshift [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467* [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Afs*15 [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Gfs*11 [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Pfs*7 [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Rfs*10 [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Rfs*13 [NCIt concept]
- NOTCH1 NP_060087.3:p.S2467Wfs*11 [NCIt concept]
- NOTCH1 Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ankyrin Repeat [NCIt concept]
- EGF-Like Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Dorso-Ventral Axis Formation Pathway [NCIt concept]
- Notch Proteolysis and Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Notch and Wnt Signaling Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Apoptosis [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Fate Control [NCIt concept]
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transcriptional Regulation [NCIt concept]
is_target
- Brontictuzumab [NCIt concept]

Keyword's position in hierarchy(ies) :

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