The Notch protein family contains a group of highly conserved single-pass, ligand-activated transmembrane receptors involved in cell fate selection and maintenance of progenitors during development. These proteins also function as transcription factors. Notch proteins mainly consist of an extra cellular domain containing tandem EGF-repeats and three lin-12/Notch repeats, a transmembrane domain and an intracellular domain containing six cdc1/SW16/ankyrin repeats, RAM motif, nuclear localization signals and a C-terminal OPA/PEST region. NOTCH1, a mammalian homolog of Drosophila Notch, is an important member of this family. Physiological functions influenced by NOTCH proteins include maintenance of hematopoietic stem cells, T-cell development, neuronal function and development, angiogenesis, arterial and ventricular development and differentiation, cardiac valve homeostasis, cell lineage specification of endocrine and exocrine pancreas, development of actin cytoskeleton and bone regeneration. Abnormal Notch signaling has been associated with several diseases including cancer, leukemia, melanoma, T-ALL, CADASIL, Multiple Sclerosis, Tetralogy of Fallot and Alagille Syndrome.
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Protein Aliases: Drosophila Notch homolog 1 (controlling the the ectodermal and neural cell fate in Drosophila); hN1; major type A protein; Motch A; mT14; Neurogenic locus notch homolog protein 1; Notch 1; Notch gene homolog 1; Notch homolog 1; Notch homolog 1, translocation-associated; p300; TAN1; translocation-associated; Translocation-associated notch protein TAN-1; transmembrane receptor Notch1
Gene Aliases: 9930111A19Rik; AOS5; AOVD1; BOS_12152; hN1; lin-12; Mis6; Motch; N1; NOTCH; NOTCH1; TAN1