1wha

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<StructureSection load='1wha' size='340' side='right' caption='[[1wha]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='1wha' size='340' side='right' caption='[[1wha]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[1wha]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WHA OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1WHA FirstGlance]. <br>
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<table><tr><td colspan='2'>[[1wha]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WHA OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1WHA FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Kazusa cDNA ha01022s1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Kazusa cDNA ha01022s1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<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=1wha FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wha OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1wha RCSB], [http://www.ebi.ac.uk/pdbsum/1wha PDBsum], [http://www.topsan.org/Proteins/RSGI/1wha TOPSAN]</span></td></tr>
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<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=1wha FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wha OCA], [http://pdbe.org/1wha PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1wha RCSB], [http://www.ebi.ac.uk/pdbsum/1wha PDBsum], [http://www.topsan.org/Proteins/RSGI/1wha TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[http://www.uniprot.org/uniprot/LAP4_HUMAN LAP4_HUMAN]] Defects in SCRIB are a cause of neural tube defects (NTD) [MIM:[http://omim.org/entry/182940 182940]]. NTD are congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.<ref>PMID:22095531</ref>
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[[http://www.uniprot.org/uniprot/SCRIB_HUMAN SCRIB_HUMAN]] The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/LAP4_HUMAN LAP4_HUMAN]] Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to synapses. Functions as an activator of Rac GTPase activity.<ref>PMID:15182672</ref> <ref>PMID:15775968</ref> <ref>PMID:16344308</ref> <ref>PMID:16965391</ref> <ref>PMID:19041750</ref> <ref>PMID:18716323</ref> <ref>PMID:18641685</ref>
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[[http://www.uniprot.org/uniprot/SCRIB_HUMAN SCRIB_HUMAN]] Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to synapses. Functions as an activator of Rac GTPase activity.<ref>PMID:15182672</ref> <ref>PMID:15775968</ref> <ref>PMID:16344308</ref> <ref>PMID:16965391</ref> <ref>PMID:18641685</ref> <ref>PMID:18716323</ref> <ref>PMID:19041750</ref>
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
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[[Category: Homo sapiens]]
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[[Category: Human]]
[[Category: Inoue, M]]
[[Category: Inoue, M]]
[[Category: Kigawa, T]]
[[Category: Kigawa, T]]

Revision as of 22:06, 10 September 2015

Solution structure of the second PDZ domain of human scribble (KIAA0147 protein).

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