NOTCH1,TAN1,Neurogenic locus notch homolog protein 1,Notch 1,hN1,Translocation-associated notch protein TAN-1
Cell localization:Membranous.notch 1(NOTCH1) Homo sapiens This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellµLar domain consisting of mµLtiple epidermal growth factor-like (EGF) repeats, and an intracellµLar domain consisting of mµLtiple different domain types. Notch signaling is an evolutionarily conserved intercellµLar signaling pathway that regµLates 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 lymph