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==Crystal structure of the Calx-beta domain of integrin beta4, calcium soak==
==Crystal structure of the Calx-beta domain of integrin beta4, calcium soak==
<StructureSection load='3fso' size='340' side='right' caption='[[3fso]], [[Resolution|resolution]] 1.41&Aring;' scene=''>
<StructureSection load='3fso' size='340' side='right'caption='[[3fso]], [[Resolution|resolution]] 1.41&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[3fso]] 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=3FSO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3FSO FirstGlance]. <br>
<table><tr><td colspan='2'>[[3fso]] 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=3FSO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3FSO FirstGlance]. <br>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1qg3|1qg3]], [[3f7q|3f7q]], [[3f7r|3f7r]], [[3fq4|3fq4]]</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]] 1.405&#8491;</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ITGB4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</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=3fso FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3fso OCA], [https://pdbe.org/3fso PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3fso RCSB], [https://www.ebi.ac.uk/pdbsum/3fso PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3fso ProSAT]</span></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=3fso FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3fso OCA], [http://pdbe.org/3fso PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3fso RCSB], [http://www.ebi.ac.uk/pdbsum/3fso PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3fso ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[http://omim.org/entry/226730 226730]]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref>  Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[http://omim.org/entry/226650 226650]]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>
[https://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN] Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:[https://omim.org/entry/226730 226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.<ref>PMID:9792864</ref> <ref>PMID:9422533</ref> <ref>PMID:9546354</ref> <ref>PMID:9892956</ref> <ref>PMID:10873890</ref> <ref>PMID:11251584</ref> <ref>PMID:11328943</ref>  Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:[https://omim.org/entry/226650 226650]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.<ref>PMID:10792571</ref>  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN]] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>
[https://www.uniprot.org/uniprot/ITB4_HUMAN ITB4_HUMAN] Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.<ref>PMID:12482924</ref> <ref>PMID:19403692</ref>  
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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==See Also==
==See Also==
*[[Integrin|Integrin]]
*[[Integrin 3D structures|Integrin 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Alonso-Garcia, N]]
[[Category: Large Structures]]
[[Category: Ingles-Prieto, A]]
[[Category: Alonso-Garcia N]]
[[Category: Pereda, J M.de]]
[[Category: Ingles-Prieto A]]
[[Category: Alternative splicing]]
[[Category: De Pereda JM]]
[[Category: Cell adhesion]]
[[Category: Disease mutation]]
[[Category: Epidermolysis bullosa]]
[[Category: Glycoprotein]]
[[Category: Immunoglobulin fold]]
[[Category: Integrin]]
[[Category: Membrane]]
[[Category: Phosphoprotein]]
[[Category: Polymorphism]]
[[Category: Receptor]]
[[Category: Transmembrane]]

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