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FLASH GENE

Symbol

NOTCH1

contributors: shn - updated : 06-10-2017

HGNC name	notch 1
HGNC id	7881

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

TAN1 , FAVD1 , AOS5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   adult Down syndrome cortex tumoral       gain of function in T-cell lymphoblastic leukemias and lymphomas constitutional     --over   inhibits osteoblastogenesis by suppressing Wnt/beta-catenin but not bone morphogenetic protein signaling constitutional germinal mutation       heart valve disease such as bicuspid aortic valve, hypoplastic left heart syndrome,aortic stenosis and other serious valvular anomalies with calcifications in many cases tumoral       gain of function activation of the Notch pathway, which is critical in glomerular patterning, contributes to the development of glomerular disease constitutional       gain of function causes severe osteosclerosis owing to increased proliferation of immature osteoblasts constitutional     --low   promotes osteoclastogenesis indirectly by enhancing the ability of osteoblast lineage cells to stimulate osteoclastogenesis tumoral     --low   in keratinocyte cancer cell lines and tumors constitutional     --over   in immune thrombocytopenic purpura tumoral   deletion     T cell-specific deletion of floxed NOTCH1 promoter/exon 1 sequences significantly accelerates leukemogenesis

Susceptibility

to left ventricular outflow tract abnormalities

Variant & Polymorphism other	mutations in left ventricular outflow tract malformations reduce ligand-induced signaling

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate down-regulation of Notch-1 by novel agents could become a newer approach for the prevention of tumor progression and/or treatment of prostate carcinoma miscelleaneous urinary   Notch activation in mature podocytes is a new mechanism in the pathogenesis of glomerular disease and thus could represent a new therapeutic target osteoarticular bone ostéoporosis therapeutic inhibition of NOTCH signaling may adversely accelerate bone loss and osteoporosis (potential complication of therapeutic inhibition of NOTCH activity) blood coagulation   blockage of Notch1 pathway is likely a promising therapeutic concept in immune thrombocytopenic purpura cancer hemopathy   reversible activation of the Notch pathway may represent an attractive future therapy, targeting specifically the progression and relapse of granulocytic and monocytic neoplasms

ANIMAL & CELL MODELS

	Notch1 mutant and Notch1/Notch4 double mutant mouse embryos displayed severe defects in angiogenic vascular remodeling
	ablation of Notch1 in mouse skin resulted in epidermal and corneal hyperplasia followed by the development of skin tumors and facilitated chemical-induced skin carcinogenesis
	doubly mouse embryos mutant for Notch1 and Notch2 exhibited multiple defects in left-right asymmetry
	Notch1 -/- corneal progenitor mouse cells lost the ability to repair mechanically wounded corneal epithelium