Biomarker: Notch-1

Histology type: endometrial carcinoma

Country: Japan

Region: Kurashiki

Study type: Comparative Study

Followed up time :

Conclusion: In conclusion, Notch-1 immunocytochemistry is a useful method for distinguishing between EGBD and endometrial carcinoma in endometrial cytology.

Sample type : cytology

Sample method: immunocytochemical staining

Expression pattern : cut-off value = Notch-1 LI of 40%

Statictics: Mean ;Range

Cohort age: 58.9;36-85

Funtion Uniprot: 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).

UniProt ID: P46531

UniProt Link: https://www.uniprot.org/uniprotkb/P46531/entry

Biological function from UniProt: #Angiogenesis #Differentiation #Notch signaling pathway #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.

Subcellular UniProt: #Cell membrane #Membrane #Nucleus

Alternative name from UniProt:

Recommended name: Neurogenic locus notch homolog protein 1

Gene name from HGNC: NOTCH1 (TAN1)

HPA class: Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters

AlphaFold DB: P46531

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P46531

HPA link: https://www.proteinatlas.org/ENSG00000148400-NOTCH1

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Cytoplasmic and nuclear expression in most tissues.

Single cell type specificity Cell type enhanced (Hepatic stellate cells, Astrocytes, Adipocytes)

Immune cell specificity: Immune cell enhanced (neutrophil)

Subcellular summary HPA Located in Nucleoplasm

Cancer prognostic summary HPA Prognostic marker in renal cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000148400-NOTCH1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000148400-NOTCH1/pathology/endometrial+cancer

Phenotype ID: 109730;616028;

Disease: Aortic valve disease 1 (AOVD1);Adams-Oliver syndrome 5 (AOS5);

Note1: The disease is caused by variants affecting the gene represented in this entry;The disease is caused by variants affecting the gene represented in this entry;

Note2: A number sign (#) is used with this entry because of evidence that aortic valve disease-1 (AOVD1) is caused by heterozygous mutation in the NOTCH1 gene (190198) on chromosome 9q34.;A number sign (#) is used with this entry because of evidence that Adams-Oliver syndrome-5 (AOS5) is caused by heterozygous mutation in the NOTCH1 gene (190198) on chromosome 9q34.

OMIM: 190198;109730;616028;

OMIM link1: https://www.omim.org/entry/109730;https://www.omim.org/entry/616028;

OMIM link2: https://www.omim.org/entry/190198;https://www.omim.org/entry/616028;

Phenotype: AORTIC VALVE DISEASE 1; AOVD1;ADAMS-OLIVER SYNDROME 5; AOS5;

HGNC ID: HGNC:7881

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881