1li1
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1li1]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1LI1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LI1 FirstGlance]. <br> | <table><tr><td colspan='2'>[[1li1]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1LI1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LI1 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene>< | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1li1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1li1 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1li1 RCSB], [http://www.ebi.ac.uk/pdbsum/1li1 PDBsum]</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=1li1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1li1 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1li1 RCSB], [http://www.ebi.ac.uk/pdbsum/1li1 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/CO4A1_HUMAN CO4A1_HUMAN]] Defects in COL4A1 are a cause of brain small vessel disease with hemorrhage (BSVDH) [MIM:[http://omim.org/entry/607595 607595]]. Brain small vessel diseases underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal dominant.<ref>PMID:16598045</ref> <ref>PMID:17696175</ref> <ref>PMID:17379824</ref> <ref>PMID:20385946</ref> <ref>PMID:19477666</ref> Defects in COL4A1 are the cause of hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:[http://omim.org/entry/611773 611773]]. The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.<ref>PMID:18160688</ref> <ref>PMID:20818663</ref> Defects in COL4A1 are a cause of familial porencephaly (POREN1) [MIM:[http://omim.org/entry/175780 175780]]. Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles.<ref>PMID:15905400</ref> <ref>PMID:16107487</ref> <ref>PMID:19194877</ref> [[http://www.uniprot.org/uniprot/CO4A2_HUMAN CO4A2_HUMAN]] Defects in COL4A2 are the cause of porencephaly type 2 (POREN2) [MIM:[http://omim.org/entry/614483 614483]]. POREN2 is a neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles.<ref>PMID:22209246</ref> Defects in COL4A2 are a cause of susceptibility to intracerebral hemorrhage (ICH) [MIM:[http://omim.org/entry/614519 614519]]. ICH is a pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke.<ref>PMID:22209247</ref> | [[http://www.uniprot.org/uniprot/CO4A1_HUMAN CO4A1_HUMAN]] Defects in COL4A1 are a cause of brain small vessel disease with hemorrhage (BSVDH) [MIM:[http://omim.org/entry/607595 607595]]. Brain small vessel diseases underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal dominant.<ref>PMID:16598045</ref> <ref>PMID:17696175</ref> <ref>PMID:17379824</ref> <ref>PMID:20385946</ref> <ref>PMID:19477666</ref> Defects in COL4A1 are the cause of hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:[http://omim.org/entry/611773 611773]]. The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.<ref>PMID:18160688</ref> <ref>PMID:20818663</ref> Defects in COL4A1 are a cause of familial porencephaly (POREN1) [MIM:[http://omim.org/entry/175780 175780]]. Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles.<ref>PMID:15905400</ref> <ref>PMID:16107487</ref> <ref>PMID:19194877</ref> [[http://www.uniprot.org/uniprot/CO4A2_HUMAN CO4A2_HUMAN]] Defects in COL4A2 are the cause of porencephaly type 2 (POREN2) [MIM:[http://omim.org/entry/614483 614483]]. POREN2 is a neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles.<ref>PMID:22209246</ref> Defects in COL4A2 are a cause of susceptibility to intracerebral hemorrhage (ICH) [MIM:[http://omim.org/entry/614519 614519]]. ICH is a pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke.<ref>PMID:22209247</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Bartunik, H D | + | [[Category: Bartunik, H D]] |
| - | [[Category: Bode, W | + | [[Category: Bode, W]] |
| - | [[Category: Bourenkov, G P | + | [[Category: Bourenkov, G P]] |
| - | [[Category: Henrich, S | + | [[Category: Henrich, S]] |
| - | [[Category: Huber, R | + | [[Category: Huber, R]] |
| - | [[Category: Kuhn, K | + | [[Category: Kuhn, K]] |
| - | [[Category: Mann, K | + | [[Category: Mann, K]] |
| - | [[Category: Ries, A | + | [[Category: Ries, A]] |
| - | [[Category: Than, M E | + | [[Category: Than, M E]] |
| - | [[Category: Timpl, R | + | [[Category: Timpl, R]] |
[[Category: Basement membrane]] | [[Category: Basement membrane]] | ||
[[Category: Collagen iv]] | [[Category: Collagen iv]] | ||
Revision as of 16:47, 5 January 2015
The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link
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