Sample Type for Cell Culture Supernates, Cell lysates, Tissue Lysates, Serum, EDTA Plasma, Heparin Plasma

NOTCH1

Neurogenic locus notch homolog protein 1

NOTCH1 ;
TAN1 ;
Neurogenic locus notch homolog protein 1 ;
Notch 1 ;
hN1 ;
Translocation-associated notch protein TAN-1

disease:Defects in NOTCH1 are a cause of aortic valve disease [MIM:109730]. The disorder consists of an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease. Calcification of the aortic valve is the third leading cause of heart disease in adults. The incidence increases with age, and it is often associated with a bicuspid aortic valve present in 1-2% of the population.,disease:NOTCH1 truncation is associated with T-cell acute lymphoblastic leukemia.,function: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 RBP-J kappa 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.,PTM:Phosphorylated.,PTM:Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.,similarity:Belongs to the NOTCH family.,similarity:Contains 3 LNR (Lin/Notch) repeats.,similarity:Contains 36 EGF-like domains.,similarity:Contains 5 ANK repeats.,subcellular location:Following proteolytical processing NICD is translocated to the nucleus.,subunit: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 RBPSUH. Also interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH1.,tissue specificity: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.,

cell morphogenesis, cell morphogenesis involved in differentiation, angiogenesis, blood vessel development, cell fate specification, morphogenesis of a branching structure, epithelial to mesenchymal transition, liver development, hair follicle development, vasculature development, sprouting angiogenesis, regionalization, transcription, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, immune response, cell surface receptor linked signal transduction, Notch signaling pathway, positive regulation of transcription of Notch receptor target, gamete generation, spermatogenesis, determination of left/right symmetry, compartment specification, pattern specification process, ectoderm development, axonogenesis, ectodermal gut development,foregut morphogenesis, endoderm development, heart development, positive regulation of cell proliferation, epidermis development, response to wounding, determination of symmetry, determination of bilateral symmetry, positive regulation of biosynthetic process, anterior/posterior pattern formation, glial cell differentiation, regulation of specific transcription from RNA polymerase II promoter, positive regulation of specific transcription from RNA polymerase II promoter, positive regulation of macromolecule biosynthetic process, positive regulation of macromolecule metabolic process, positive regulation of gene expression, positive regulation of cell development, regulation of cell death,positive regulation of cell death, regulation of gliogenesis, positive regulation of gliogenesis, mesenchymal cell development, regulation of striated muscle tissue development, stem cell division, sexual reproduction, developmental maturation, molting cycle process, hair cycle process, cell projection organization, neuron differentiation, respiratory tube development, lung development, embryonic limb morphogenesis, regulation of epithelial cell differentiation,positive regulation of epithelial cell differentiation, forebrain development, hair follicle morphogenesis, regeneration,neuron projection development, positive regulation of cellular biosynthetic process, multicellular organism reproduction, regulation of gene-specific transcription, cellular component morphogenesis, cell part morphogenesis,appendage morphogenesis, limb morphogenesis, embryonic appendage morphogenesis, embryonic hindlimb morphogenesis, hindlimb morphogenesis, tube morphogenesis, tube development, growth, wound healing,gliogenesis, regulation of cell proliferation, tissue regeneration, molting cycle, hair cycle, anagen, regulation of apoptosis, positive regulation of apoptosis, negative regulation of apoptosis, regulation of programmed cell death,positive regulation of programmed cell death, negative regulation of programmed cell death, positive regulation of gene-specific transcription, cell fate commitment, regulation of transcription, negative regulation of cell differentiation,positive regulation of cell differentiation, regulation of epidermal cell differentiation, positive regulation of epidermal cell differentiation, regulation of keratinocyte differentiation, positive regulation of keratinocyte differentiation,regulation of myoblast differentiation, negative regulation of myoblast differentiation, regulation of neuron differentiation, negative regulation of neuron differentiation, regulation of epidermis development, positive regulation of epidermis development, regulation of glial cell differentiation, positive regulation of glial cell differentiation, positive regulation of transcription, DNA-dependent, positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter, regulation of photoreceptor cell differentiation, negative regulation of photoreceptor cell differentiation,somatic stem cell division, male gamete generation, blood vessel morphogenesis, digestive tract morphogenesis, gut morphogenesis, gut development, ectodermal gut morphogenesis, developmental growth, embryonic morphogenesis,reproductive process in a multicellular organism, regulation of muscle development, regulation of skeletal muscle tissue development, neuron fate commitment, neuron development, cell morphogenesis involved in neuron differentiation, oligodendrocyte differentiation, tissue morphogenesis, epidermis morphogenesis, appendage development, regulation of skeletal muscle fiber development, branching morphogenesis of a tube, mesenchymal cell differentiation, neuron projection morphogenesis, hair follicle maturation, cell projection morphogenesis, regulation of epithelial cell proliferation, regulation of neurogenesis, positive regulation of neurogenesis, positive regulation of developmental process, regulation of muscle cell differentiation, negative regulation of muscle cell differentiation,regulation of striated muscle cell differentiation, positive regulation of nitrogen compound metabolic process, negative regulation of multicellular organismal process, regulation of RNA metabolic process, positive regulation of RNA metabolic process, cell division, regulation of nervous system development, digestive system development, limb development, regulation of cell development, mesenchyme development, respiratory system development, negative regulation of cell death,

Cell membrane ; Single-pass type I membrane protein .; [Notch 1 intracellular domain]: Nucleus . Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10. .

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.