This old version of Proteopedia is provided for student assignments while the new version is undergoing repairs. Content and edits done in this old version of Proteopedia after March 1, 2026 will eventually be lost when it is retired in about June of 2026.
Apply for new accounts at the new Proteopedia. Your logins will work in both the old and new versions.
2rq1
From Proteopedia
m (Protected "2rq1" [edit=sysop:move=sysop]) |
|||
| Line 1: | Line 1: | ||
| - | [[Image:2rq1.png|left|200px]] | ||
| - | |||
{{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== | ||
| Line 10: | Line 12: | ||
==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
