NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates 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 lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
Uniprot Description
Notch 1: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 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. May be important for normal lymphocyte function. In altered form, may contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation of both CD4+ and CD8+ cells in the thymus. May be important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, may function as a receptor for neuronal DNER and may be involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Heterodimer of a C-terminal fragment N(TM) and an N- terminal fragment N(EC) which are probably linked by disulfide bonds. Interacts with DNER, DTX1, DTX2 and RBPJ/RBPSUH. Also interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH1. The activated membrane-bound form interacts with AAK1 which promotes NOTCH1 stabilization. Forms a trimeric complex with FBXW7 and SGK1. Interacts with HIF1AN. HIF1AN negatively regulates the function of notch intracellular domain (NICD), accelerating myogenic differentiation. 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. Belongs to the NOTCH family.
Protein type: Receptor, misc.; Membrane protein, integral; Oncoprotein; Transcription factor; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9q34.3
Cellular Component: Golgi membrane; nucleoplasm; endoplasmic reticulum membrane; cell surface; integral to membrane; extracellular region; acrosome; plasma membrane; cytosol; nucleus; receptor complex
Molecular Function: enzyme inhibitor activity; protein binding; enzyme binding; chromatin DNA binding; sequence-specific DNA binding; receptor activity; calcium ion binding; transcription factor activity
Biological Process: neural tube development; negative regulation of calcium ion-dependent exocytosis; positive regulation of apoptosis; heart development; positive regulation of transcription, DNA-dependent; positive regulation of JAK-STAT cascade; response to lipopolysaccharide; cell differentiation in spinal cord; response to corticosteroid stimulus; negative regulation of BMP signaling pathway; compartment specification; positive regulation of endothelial cell differentiation; negative regulation of ossification; oligodendrocyte differentiation; somatic stem cell division; negative regulation of osteoblast differentiation; positive regulation of astrocyte differentiation; positive regulation of cardiac muscle cell proliferation; positive regulation of keratinocyte differentiation; negative regulation of photoreceptor cell differentiation; positive regulation of neuroblast proliferation; organ regeneration; Notch receptor processing; keratinocyte differentiation; branching morphogenesis of a tube; response to muramyl dipeptide; positive regulation of transcription from RNA polymerase II promoter; determination of left/right symmetry; negative regulation of transcription, DNA-dependent; positive regulation of epithelial cell proliferation; foregut morphogenesis; endoderm development; cell fate specification; cardiac muscle cell proliferation; negative regulation of transcription from RNA polymerase II promoter; embryonic hindlimb morphogenesis; negative regulation of neurogenesis; negative regulation of cell proliferation; astrocyte differentiation; regulation of transcription, DNA-dependent; tissue regeneration; forebrain development; positive regulation of cell proliferation; cardiac muscle morphogensis; heart looping; regulation of somitogenesis; positive regulation of BMP signaling pathway; mesenchymal cell development; transcription initiation from RNA polymerase II promoter; Notch signaling pathway; hair follicle morphogenesis; in utero embryonic development; lumen formation; liver development; humoral immune response; activation of Notch receptor target transcription factor; negative regulation of oligodendrocyte differentiation; inflammatory response to antigenic stimulus; axonogenesis; negative regulation of catalytic activity; epithelial to mesenchymal transition; immune response; gene expression; spermatogenesis; sprouting angiogenesis; negative regulation of myoblast differentiation; auditory receptor cell fate commitment; lung development; positive regulation of cell migration
Disease: Adams-oliver Syndrome 5; Aortic Valve Disease 1
Research Articles on NOTCH-1
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Product Notes
The Human NOTCH-1 notch1 (Catalog #AAA3800178) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA3800178 ELISA Kit recognizes Human NOTCH-1. It is sometimes possible for the material contained within the vial of "NOTCH-1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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