1xaw
From Proteopedia
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{{STRUCTURE_1xaw| PDB=1xaw | SCENE= }} | {{STRUCTURE_1xaw| PDB=1xaw | SCENE= }} | ||
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===crystal structure of the cytoplasmic distal C-terminal domain of occludin=== | ===crystal structure of the cytoplasmic distal C-terminal domain of occludin=== | ||
| + | {{ABSTRACT_PUBMED_16081103}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/OCLN_HUMAN OCLN_HUMAN]] Defects in OCLN are the cause of band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:[http://omim.org/entry/251290 251290]]; also known as pseudo-TORCH syndrome. BLCPMG is a neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.<ref>PMID:20727516</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/OCLN_HUMAN OCLN_HUMAN]] May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.<ref>PMID:19114660</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:016081103</ref><references group="xtra"/> | + | <ref group="xtra">PMID:016081103</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Anderson, J M.]] | [[Category: Anderson, J M.]] | ||
Revision as of 02:30, 25 March 2013
Contents |
crystal structure of the cytoplasmic distal C-terminal domain of occludin
Template:ABSTRACT PUBMED 16081103
Disease
[OCLN_HUMAN] Defects in OCLN are the cause of band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]; also known as pseudo-TORCH syndrome. BLCPMG is a neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.[1]
Function
[OCLN_HUMAN] May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.[2]
About this Structure
1xaw is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Li Y, Fanning AS, Anderson JM, Lavie A. Structure of the conserved cytoplasmic C-terminal domain of occludin: identification of the ZO-1 binding surface. J Mol Biol. 2005 Sep 9;352(1):151-64. PMID:16081103 doi:10.1016/j.jmb.2005.07.017
- ↑ O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub, 2010 Aug 19. PMID:20727516 doi:10.1016/j.ajhg.2010.07.012
- ↑ Suzuki T, Elias BC, Seth A, Shen L, Turner JR, Giorgianni F, Desiderio D, Guntaka R, Rao R. PKC eta regulates occludin phosphorylation and epithelial tight junction integrity. Proc Natl Acad Sci U S A. 2009 Jan 6;106(1):61-6. doi: 10.1073/pnas.0802741106., Epub 2008 Dec 29. PMID:19114660 doi:10.1073/pnas.0802741106
