5i04
From Proteopedia
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[https://www.uniprot.org/uniprot/EGLN_HUMAN EGLN_HUMAN] Heritable pulmonary arterial hypertension;Familial cerebral saccular aneurysm;Generalized juvenile polyposis/juvenile polyposis coli;Hereditary hemorrhagic telangiectasia. The disease is caused by variants affecting the gene represented in this entry. | [https://www.uniprot.org/uniprot/EGLN_HUMAN EGLN_HUMAN] Heritable pulmonary arterial hypertension;Familial cerebral saccular aneurysm;Generalized juvenile polyposis/juvenile polyposis coli;Hereditary hemorrhagic telangiectasia. The disease is caused by variants affecting the gene represented in this entry. | ||
== Function == | == Function == | ||
| - | [https://www.uniprot.org/uniprot/EGLN_HUMAN EGLN_HUMAN] Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors ( | + | [https://www.uniprot.org/uniprot/MALE_ECOLI MALE_ECOLI] Involved in the high-affinity maltose membrane transport system MalEFGK. Initial receptor for the active transport of and chemotaxis toward maltooligosaccharides.[https://www.uniprot.org/uniprot/EGLN_HUMAN EGLN_HUMAN] Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:21737454, PubMed:22347366, PubMed:23300529, PubMed:8370410). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).[UniProtKB:Q63961]<ref>PMID:17540773</ref> <ref>PMID:21737454</ref> <ref>PMID:23300529</ref> <ref>PMID:7894484</ref> <ref>PMID:8370410</ref> <ref>PMID:1692830</ref> |
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== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
Crystal structure of the orphan region of human endoglin/CD105
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