AlphaFold predicted structure
NOTCH1 · P46531
Mean pLDDT
59.6/ 100
Low
2,555 residues
Confidence breakdown
- Very high(≥ 90)3%
- Confident(70–90)32%
- Low(50–70)39%
- Very low(< 50)27%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NOTCH1
Chr 9q34.3notch receptor 1
- MANE:
- ENST00000651671.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownThoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedThoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEhlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
Adams-Oliver syndrome
0.81B-cell chronic lymphocytic leukemia
0.73aortic stenosis
0.72cancer
0.68head and neck squamous cell carcinoma
0.65lymphoid leukemia
0.58familial thoracic aortic aneurysm and aortic dissection
0.56neurodegenerative disease
0.54squamous cell lung carcinoma
0.53cervical squamous cell carcinoma
0.50
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neurogenic locus notch homolog protein 1
Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO)
Diseases associated with NOTCH1
Curated MONDO disease pages that list NOTCH1 among their top associated genes.