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. .