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NOTCH1, L1601P (c.4802T>C)

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Expand Collapse NOTCH1  - General Description NOTCH1 is a gene that provides the code for making a protein that serves as the starting point for the relatively simple Notch signaling system that determines if immature cells do or do not change into specialized cell types. This protein is unusual because it performs one task on the cell surface, where it acts as a receptor for certain chemical signals, and another task in the center of cell, in the nucleus, where it delivers the signal it received. (Other cell signaling systems are much more complicated, involving a series of proteins to send a signal). The receptor is activated when other proteins, or ligands, attach (bind) to it. The ligands are named Jagged1, Jagged2, and Delta1-4. When the part of the receptor that sticks outside the cell binds to one of these ligands, the receptor becomes activated and the part of the receptor that's inside the cell breaks away and moves (translocates) to the nucleus. The signal tells the nucleus which genes should be expressed to make proteins. Notch signaling often leads to the creation of new cell types from unspecialized cells, but sometimes it prevents cells from becoming specialized. Notch signaling that has gone awry is associated with several human cancers, such as certain T cell acute lymphoblastic leukemias (T-ALL), in which rearrangement of chromosomes causes Notch signaling to occur all the time in the T cells. Problems with Notch proteins or their ligands, or both, also are associated with certain neuroblastomas and breast, skin, cervical, and prostate cancers (Lai, 2004). For example, in colorectal cancer cells abnormal Notch signaling may be triggered by overexpression of the Jagged1 ligand (Rodilla, 2009). Source: Genetics Home ReferenceThe NOTCH1 gene encodes a member of the Notch family, which is an evolutionarily conserved intercellular signaling pathway, which regulates interactions between physically adjacent cells as well as a variety of developmental processes by controlling cell fate decisions. Members of this Type 1 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. Notch1 is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer where it 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. Source: Genetics Home Reference
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NOTCH1 is a gene that provides the code for making a protein that serves as the starting point for the relatively simple Notch signaling system that determines if immature cells do or do not change into specialized cell types. This protein is unusual because it performs one task on the cell surface, where it acts as a receptor for certain chemical signals, and another task in the center of cell, in the nucleus, where it delivers the signal it received. (Other cell signaling systems are much more complicated, involving a series of proteins to send a signal). The receptor is activated when other proteins, or ligands, attach (bind) to it. The ligands are named Jagged1, Jagged2, and Delta1-4. When the part of the receptor that sticks outside the cell binds to one of these ligands, the receptor becomes activated and the part of the receptor that's inside the cell breaks away and moves (translocates) to the nucleus. The signal tells the nucleus which genes should be expressed to make proteins. Notch signaling often leads to the creation of new cell types from unspecialized cells, but sometimes it prevents cells from becoming specialized.

Notch signaling that has gone awry is associated with several human cancers, such as certain T cell acute lymphoblastic leukemias (T-ALL), in which rearrangement of chromosomes causes Notch signaling to occur all the time in the T cells. Problems with Notch proteins or their ligands, or both, also are associated with certain neuroblastomas and breast, skin, cervical, and prostate cancers (Lai, 2004). For example, in colorectal cancer cells abnormal Notch signaling may be triggered by overexpression of the Jagged1 ligand (Rodilla, 2009).

Source: Genetics Home Reference
The NOTCH1 gene encodes a member of the Notch family, which is an evolutionarily conserved intercellular signaling pathway, which regulates interactions between physically adjacent cells as well as a variety of developmental processes by controlling cell fate decisions. Members of this Type 1 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. Notch1 is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer where it 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.

Source: Genetics Home Reference
PubMed ID's
19325125, 14973298
Expand Collapse L1601P (c.4802T>C)  in NOTCH1
The NOTCH1 L1601P mutation arises from the nucleotide change c.4802T>C, resulting in an amino acid substitution of the leucine (L) at position 1601 by a proline (P).
The NOTCH1 L1601P mutation arises from the nucleotide change c.4802T>C, resulting in an amino acid substitution of the leucine (L) at position 1601 by a proline (P).

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Trial Matches: (G) - Gene, (M) - Mutation
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