2kb9

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Current revision (01:07, 21 November 2024) (edit) (undo)
 
(7 intermediate revisions not shown.)
Line 1: Line 1:
-
{{STRUCTURE_2kb9| PDB=2kb9 | SCENE= }}
 
-
===Human Jagged-1, exon 6===
 
-
{{ABSTRACT_PUBMED_19586525}}
 
-
==Disease==
+
==Human Jagged-1, exon 6==
-
[[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>
+
<StructureSection load='2kb9' size='340' side='right'caption='[[2kb9]]' scene=''>
 +
== Structural highlights ==
 +
<table><tr><td colspan='2'>[[2kb9]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KB9 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KB9 FirstGlance]. <br>
 +
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR, 20 models</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=2kb9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kb9 OCA], [https://pdbe.org/2kb9 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kb9 RCSB], [https://www.ebi.ac.uk/pdbsum/2kb9 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kb9 ProSAT]</span></td></tr>
 +
</table>
 +
== Disease ==
 +
[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 ==
 +
[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>
 +
== Evolutionary Conservation ==
 +
[[Image:Consurf_key_small.gif|200px|right]]
 +
Check<jmol>
 +
<jmolCheckbox>
 +
<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kb/2kb9_consurf.spt"</scriptWhenChecked>
 +
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview03.spt</scriptWhenUnchecked>
 +
<text>to colour the structure by Evolutionary Conservation</text>
 +
</jmolCheckbox>
 +
</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=2kb9 ConSurf].
 +
<div style="clear:both"></div>
 +
<div style="background-color:#fffaf0;">
 +
== Publication Abstract from PubMed ==
 +
ABSTRACT: BACKGROUND: Notch signaling drives developmental processes in all metazoans. The receptor binding region of the human Notch ligand Jagged-1 is made of a DSL (Delta/Serrate/Lag-2) domain and two atypical epidermal growth factor (EGF) repeats encoded by two exons, exon 5 and 6, which are out of phase with respect to the EGF domain boundaries. RESULTS: We determined the 1H-NMR solution structure of the polypeptide encoded by exon 6 of JAG1 and spanning the C-terminal region of EGF1 and the entire EGF2. We show that this single, evolutionary conserved exon defines an autonomous structural unit that, despite the minimal structural context, closely matches the structure of the same region in the entire receptor binding module. CONCLUSIONS: In eukaryotic genomes, exon and domain boundaries usually coincide. We report a case study where this assertion does not hold, and show that the autonomously folding, structural unit is delimited by exon boundaries, rather than by predicted domain boundaries.
-
==Function==
+
Exon 6 of human JAG1 encodes a conserved structural unit.,Pintar A, Guarnaccia C, Dhir S, Pongor S BMC Struct Biol. 2009 Jul 8;9(1):43. PMID:19586525<ref>PMID:19586525</ref>
-
[[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>
+
-
==About this Structure==
+
From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
-
[[2kb9]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KB9 OCA].
+
</div>
-
 
+
<div class="pdbe-citations 2kb9" style="background-color:#fffaf0;"></div>
-
==Reference==
+
== References ==
-
<ref group="xtra">PMID:019586525</ref><references group="xtra"/><references/>
+
<references/>
-
[[Category: Guarnaccia, C.]]
+
__TOC__
-
[[Category: Pintar, A.]]
+
</StructureSection>
-
[[Category: Pongor, S.]]
+
[[Category: Homo sapiens]]
-
[[Category: Developmental protein]]
+
[[Category: Large Structures]]
-
[[Category: Disease mutation]]
+
[[Category: Guarnaccia C]]
-
[[Category: Egf]]
+
[[Category: Pintar A]]
-
[[Category: Egf-like domain]]
+
[[Category: Pongor S]]
-
[[Category: Glycoprotein]]
+
-
[[Category: Membrane]]
+
-
[[Category: Notch signaling]]
+
-
[[Category: Notch signaling pathway]]
+
-
[[Category: Protein binding]]
+
-
[[Category: Transmembrane]]
+

Current revision

Human Jagged-1, exon 6

PDB ID 2kb9

Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2kb9"
Personal tools