2mbh: Difference between revisions

<StructureSection load='2mbh' size='340' side='right'caption='[[2mbh]]' scene=''>

<table><tr><td colspan='2'>[[2mbh]] is a 2 chain structure with sequence from [https://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]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2MBH FirstGlance]. <br>

</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2mbh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2mbh OCA], [https://pdbe.org/2mbh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2mbh RCSB], [https://www.ebi.ac.uk/pdbsum/2mbh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2mbh ProSAT]</span></td></tr>

[https://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:[https://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>  

[https://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>  

[[Category: Homo sapiens]]

[[Category: Omichinski JG]]

[[Category: Raiola L]]