3lcp: Difference between revisions
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{{STRUCTURE_3lcp| PDB=3lcp | SCENE= }} | {{STRUCTURE_3lcp| PDB=3lcp | SCENE= }} | ||
===Crystal structure of the carbohydrate recognition domain of LMAN1 in complex with MCFD2=== | ===Crystal structure of the carbohydrate recognition domain of LMAN1 in complex with MCFD2=== | ||
{{ABSTRACT_PUBMED_20138881}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/LMAN1_HUMAN LMAN1_HUMAN]] Defects in LMAN1 are THE cause of factor V and factor VIII combined deficiency type 1 (F5F8D1) [MIM:[http://omim.org/entry/227300 227300]]; also known as multiple coagulation factor deficiency I (MCFD1). F5F8D1 is an autosomal recessive blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.<ref>PMID:10090935</ref> [[http://www.uniprot.org/uniprot/MCFD2_HUMAN MCFD2_HUMAN]] Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:[http://omim.org/entry/613625 613625]]; also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D2 is a blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.<ref>PMID:12717434</ref><ref>PMID:18590741</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/LMAN1_HUMAN LMAN1_HUMAN]] Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.<ref>PMID:13130098</ref><ref>PMID:12717434</ref> [[http://www.uniprot.org/uniprot/MCFD2_HUMAN MCFD2_HUMAN]] The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors.<ref>PMID:12717434</ref> | |||
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==About this Structure== | ==About this Structure== | ||
[[3lcp]] is a 4 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=3LCP OCA]. | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID: | <ref group="xtra">PMID:020138881</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bourhis, J M.]] | [[Category: Bourhis, J M.]] | ||
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[[Category: Lindqvist, Y.]] | [[Category: Lindqvist, Y.]] | ||
[[Category: Wigren, E.]] | [[Category: Wigren, E.]] | ||
[[Category: Coagulation factor deficiency]] | [[Category: Coagulation factor deficiency]] | ||
[[Category: Disease mutation]] | [[Category: Disease mutation]] | ||
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[[Category: Lectin]] | [[Category: Lectin]] | ||
[[Category: Membrane]] | [[Category: Membrane]] | ||
[[Category: Protein binding]] | [[Category: Protein binding]] | ||
[[Category: Protein transport]] | [[Category: Protein transport]] | ||
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[[Category: Transmembrane]] | [[Category: Transmembrane]] | ||
[[Category: Transport]] | [[Category: Transport]] | ||
