3qij
From Proteopedia
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| - | [[Image:3qij.jpg|left|200px]] | ||
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{{STRUCTURE_3qij| PDB=3qij | SCENE= }} | {{STRUCTURE_3qij| PDB=3qij | SCENE= }} | ||
| + | ===Primitive-monoclinic crystal structure of the FERM domain of protein 4.1R=== | ||
| - | === | + | ==Disease== |
| + | [[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:[http://omim.org/entry/611804 611804]]. EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:[http://omim.org/entry/266140 266140]]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. | ||
| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/41_HUMAN 41_HUMAN]] Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. | ||
==About this Structure== | ==About this Structure== | ||
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[[Category: Weigelt, J.]] | [[Category: Weigelt, J.]] | ||
[[Category: Zhong, N.]] | [[Category: Zhong, N.]] | ||
| + | [[Category: Cytoskeleton]] | ||
| + | [[Category: Sgc]] | ||
| + | [[Category: Structural genomic]] | ||
| + | [[Category: Structural genomics consortium]] | ||
| + | [[Category: Structural protein]] | ||
Revision as of 18:54, 24 March 2013
Contents |
Primitive-monoclinic crystal structure of the FERM domain of protein 4.1R
Disease
[41_HUMAN] Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:611804]. EL1 is a Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant, hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Function
[41_HUMAN] Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.
About this Structure
3qij is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
