SENP1, SUMO specific peptidase 1, 29843

N. diseases: 79; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.030 Biomarker phenotype BEFREE SENP1 deficiency results in hyper-SUMOylation of Sirt3 and hyper-acetylation of mitochondrial proteins, which reduces mitochondrial metabolic adaption responding to fasting. 31302001 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.030 AlteredExpression phenotype BEFREE Moreover, we find that SENP1 is downregulated and VEGFR2 hyper-SUMOylated in diabetic settings and that expression of a non-SUMOylated form of VEGFR2 rescues angiogenic defects in diabetic mice. 30120232 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.030 AlteredExpression phenotype BEFREE Expression/overexpression assay revealed that the observed reduction in Sp1-DNA binding activity was connected to its hyper-Sumoylation due to increased reactive oxygen species (ROS) and Sumo1 levels, and reduced levels of Senp1, Prdx6 and Sp1. 30215601 2018