2rq1
From Proteopedia
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{{STRUCTURE_2rq1| PDB=2rq1 | SCENE= }} | {{STRUCTURE_2rq1| PDB=2rq1 | SCENE= }} | ||
| + | ===Solution structure of the 4.1R FERM alpha lobe domain=== | ||
| - | === | + | ==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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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:019338061</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019338061</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Kohno, T.]] | [[Category: Kohno, T.]] | ||
Revision as of 23:44, 24 March 2013
Contents |
Solution structure of the 4.1R FERM alpha lobe domain
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
2rq1 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- Kusunoki H, Kohno T. Solution structure and glycophorin C binding studies of the protein 4.1R FERM alpha-lobe domain. Proteins. 2009 Jul;76(1):255-60. PMID:19338061 doi:10.1002/prot.22405
