1toz
From Proteopedia
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===NMR structure of the human NOTCH-1 ligand binding region=== | ===NMR structure of the human NOTCH-1 ligand binding region=== | ||
{{ABSTRACT_PUBMED_15576031}} | {{ABSTRACT_PUBMED_15576031}} | ||
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| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/NOTC1_HUMAN NOTC1_HUMAN]] Defects in NOTCH1 are a cause of aortic valve disease 1 (AOVD1) [MIM:[http://omim.org/entry/109730 109730]]. A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.<ref>PMID:16025100</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/NOTC1_HUMAN NOTC1_HUMAN]] 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 (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:015576031</ref><ref group="xtra">PMID:015213460</ref><ref group="xtra">DOI 10.1080/07391102.2012.674184</ref><references group="xtra"/> | + | <ref group="xtra">PMID:015576031</ref><ref group="xtra">PMID:015213460</ref><ref group="xtra">DOI 10.1080/07391102.2012.674184</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Downing, A K.]] | [[Category: Downing, A K.]] | ||
Revision as of 05:12, 25 March 2013
Contents |
NMR structure of the human NOTCH-1 ligand binding region
Template:ABSTRACT PUBMED 15576031
Disease
[NOTC1_HUMAN] Defects in NOTCH1 are a cause of aortic valve disease 1 (AOVD1) [MIM:109730]. A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.[1]
Function
[NOTC1_HUMAN] 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 (By similarity).
About this Structure
1toz is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Reference
- Hambleton S, Valeyev NV, Muranyi A, Knott V, Werner JM, McMichael AJ, Handford PA, Downing AK. Structural and functional properties of the human notch-1 ligand binding region. Structure. 2004 Dec;12(12):2173-83. PMID:15576031 doi:10.1016/j.str.2004.09.012
- Muranyi A, Hambleton S, Knott V, McMichael A, Handford PA, Downing AK. 1H, 13C, and 15N resonance assignments of human Notch-1 calcium binding EGF domains 11-13. J Biomol NMR. 2004 Jul;29(3):443-4. PMID:15213460 doi:10.1023/B:JNMR.0000032521.42723.1a
- Majumder R, Roy S, Thakur AR. Analysis of Delta-Notch interaction by molecular modeling and molecular dynamic simulation studies. J Biomol Struct Dyn. 2012 May;30(1):13-29. PMID:22571430 doi:10.1080/07391102.2012.674184
- ↑ Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 8;437(7056):270-4. Epub 2005 Jul 17. PMID:16025100 doi:10.1038/nature03940
