NOTCH1
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Notch homolog 1, translocation-associated (Drosophila), also known as NOTCH1, is a human gene.
This gene encodes a member of the Notch family. 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. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development.[1] A deficiency can be associated with bicuspid aortic valve.
[edit] References
[edit] Further reading
- Artavanis-Tsakonas S, Rand MD, Lake RJ (1999). "Notch signaling: cell fate control and signal integration in development.". Science 284 (5415): 770–6. PMID 10221902.
- Mumm JS, Kopan R (2001). "Notch signaling: from the outside in.". Dev. Biol. 228 (2): 151–65. doi: . PMID 11112321.
- Allenspach EJ, Maillard I, Aster JC, Pear WS (2003). "Notch signaling in cancer.". Cancer Biol. Ther. 1 (5): 466–76. PMID 12496471.
- Aster JC (2006). "Deregulated NOTCH signaling in acute T-cell lymphoblastic leukemia/lymphoma: new insights, questions, and opportunities.". Int. J. Hematol. 82 (4): 295–301. doi: . PMID 16298817.
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