4cc1: Difference between revisions

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<StructureSection load='4cc1' size='340' side='right'caption='[[4cc1]], [[Resolution|resolution]] 2.84&Aring;' scene=''>
<StructureSection load='4cc1' size='340' side='right'caption='[[4cc1]], [[Resolution|resolution]] 2.84&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[4cc1]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4CC1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4CC1 FirstGlance]. <br>
<table><tr><td colspan='2'>[[4cc1]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4CC1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4CC1 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.84&#8491;</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[4cbz|4cbz]], [[4cc0|4cc0]]</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=FUC:ALPHA-L-FUCOSE'>FUC</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4cc1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4cc1 OCA], [http://pdbe.org/4cc1 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4cc1 RCSB], [http://www.ebi.ac.uk/pdbsum/4cc1 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4cc1 ProSAT]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4cc1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4cc1 OCA], [https://pdbe.org/4cc1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4cc1 RCSB], [https://www.ebi.ac.uk/pdbsum/4cc1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4cc1 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN]] Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:[http://omim.org/entry/118450 118450]]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.<ref>PMID:9207788</ref> <ref>PMID:9207787</ref> <ref>PMID:9585603</ref> <ref>PMID:10220506</ref> <ref>PMID:10533065</ref> <ref>PMID:11058898</ref> <ref>PMID:11157803</ref> <ref>PMID:11139247</ref> <ref>PMID:11180599</ref> <ref>PMID:12442286</ref> <ref>PMID:12497640</ref> <ref>PMID:15712272</ref> <ref>PMID:16575836</ref>  Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:[http://omim.org/entry/187500 187500]]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.<ref>PMID:9207787</ref> <ref>PMID:11152664</ref>
[https://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN] Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:[https://omim.org/entry/118450 118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.<ref>PMID:9207788</ref> <ref>PMID:9207787</ref> <ref>PMID:9585603</ref> <ref>PMID:10220506</ref> <ref>PMID:10533065</ref> <ref>PMID:11058898</ref> <ref>PMID:11157803</ref> <ref>PMID:11139247</ref> <ref>PMID:11180599</ref> <ref>PMID:12442286</ref> <ref>PMID:12497640</ref> <ref>PMID:15712272</ref> <ref>PMID:16575836</ref>  Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:[https://omim.org/entry/187500 187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.<ref>PMID:9207787</ref> <ref>PMID:11152664</ref>  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN]] Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).<ref>PMID:9462510</ref> <ref>PMID:18660822</ref>
[https://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN] Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).<ref>PMID:9462510</ref> <ref>PMID:18660822</ref>  
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== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Abbott, F]]
[[Category: Abbott F]]
[[Category: Chilakuri, C R]]
[[Category: Chilakuri CR]]
[[Category: Handford, P A]]
[[Category: Handford PA]]
[[Category: Holt, L R]]
[[Category: Holt LR]]
[[Category: Ilagan, M X.G]]
[[Category: Ilagan MXG]]
[[Category: Kopan, R]]
[[Category: Kopan R]]
[[Category: Lea, S M]]
[[Category: Lea SM]]
[[Category: Liang, S]]
[[Category: Liang S]]
[[Category: Sheppard, D]]
[[Category: Sheppard D]]
[[Category: Developmental protein]]
[[Category: Disease mutation]]
[[Category: Dsl]]
[[Category: Egf]]
[[Category: Egf-like domain]]
[[Category: Extracellular]]
[[Category: Glycoprotein]]
[[Category: Lipid]]
[[Category: Membrane]]
[[Category: Notch]]
[[Category: Notch signaling pathway]]
[[Category: Protein-binding]]
[[Category: Signaling protein]]
[[Category: Transmembrane]]

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