2mbh: Difference between revisions
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{{STRUCTURE_2mbh| PDB=2mbh | SCENE= }} | |||
===NMR structure of EKLF(22-40)/Ubiquitin Complex=== | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/KLF1_HUMAN KLF1_HUMAN]] Hereditary persistence of fetal hemoglobin - beta-thalassemia;Hereditary persistence of fetal hemoglobin - sickle cell disease;Congenital dyserythropoietic anemia due to KLF1 mutation. Congenital dyserythropoietic anemia 4 (CDA4) [MIM:[http://omim.org/entry/613673 613673]]: A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:21055716</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/KLF1_HUMAN KLF1_HUMAN]] Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation (By similarity).<ref>PMID:21055716</ref> <ref>PMID:20676099</ref> | |||
==About this Structure== | |||
[[2mbh]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2MBH OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Omichinski, J G.]] | |||
[[Category: Raiola, L.]] | |||
[[Category: Eklf]] | |||
[[Category: Protein-protein complex]] | |||
[[Category: Transcription]] | |||
[[Category: Transcription factor tad]] | |||
[[Category: Ubiquitin]] | |||
[[Category: Uim/miu]] | |||
Revision as of 09:32, 10 October 2013
NMR structure of EKLF(22-40)/Ubiquitin ComplexNMR structure of EKLF(22-40)/Ubiquitin Complex
DiseaseDisease
[KLF1_HUMAN] Hereditary persistence of fetal hemoglobin - beta-thalassemia;Hereditary persistence of fetal hemoglobin - sickle cell disease;Congenital dyserythropoietic anemia due to KLF1 mutation. Congenital dyserythropoietic anemia 4 (CDA4) [MIM:613673]: A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
FunctionFunction
[KLF1_HUMAN] Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation (By similarity).[2] [3]
About this StructureAbout this Structure
2mbh is a 2 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
ReferenceReference
- ↑ Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub, 2010 Nov 4. PMID:21055716 doi:10.1016/j.ajhg.2010.10.010
- ↑ Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub, 2010 Nov 4. PMID:21055716 doi:10.1016/j.ajhg.2010.10.010
- ↑ Borg J, Papadopoulos P, Georgitsi M, Gutierrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgur Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. PMID:20676099 doi:10.1038/ng.630