| Entry |
|
|---|
| Name |
Mutation-caused aberrant SOD1 to 26S proteasome-mediated protein degradation
|
|---|
| Definition |
SOD1* -| DERL1 -> (Protein+UB) -- 26S -> Peptide |
|---|
| Expanded |
6647v1 -| 79139 -> (C00017+(6233,7311,7314,7316)) -- (5687+5683+5685+5688+143471+5686+5682+5684+5694+5695+5691+5690+5693+5689+5692+5701+5700+5704+5706+5702+5705+5708+5707+5709+5715+5718+5717+9861+5713+5719+5710+10213+5714+11047+7979) -> C00012 |
|---|
| Class |
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
|---|
| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
|
|---|
| Gene |
| 6647 | SOD1; superoxide dismutase 1 |
| 6233 | RPS27A; ribosomal protein S27a |
| 7311 | UBA52; ubiquitin A-52 residue ribosomal protein fusion product 1 |
| 5687 | PSMA6; proteasome 20S subunit alpha 6 |
| 5683 | PSMA2; proteasome 20S subunit alpha 2 |
| 5685 | PSMA4; proteasome 20S subunit alpha 4 |
| 5688 | PSMA7; proteasome 20S subunit alpha 7 |
| 143471 | PSMA8; proteasome 20S subunit alpha 8 |
| 5686 | PSMA5; proteasome 20S subunit alpha 5 |
| 5682 | PSMA1; proteasome 20S subunit alpha 1 |
| 5684 | PSMA3; proteasome 20S subunit alpha 3 |
| 5694 | PSMB6; proteasome 20S subunit beta 6 |
| 5695 | PSMB7; proteasome 20S subunit beta 7 |
| 5691 | PSMB3; proteasome 20S subunit beta 3 |
| 5690 | PSMB2; proteasome 20S subunit beta 2 |
| 5693 | PSMB5; proteasome 20S subunit beta 5 |
| 5689 | PSMB1; proteasome 20S subunit beta 1 |
| 5692 | PSMB4; proteasome 20S subunit beta 4 |
| 5701 | PSMC2; proteasome 26S subunit, ATPase 2 |
| 5700 | PSMC1; proteasome 26S subunit, ATPase 1 |
| 5704 | PSMC4; proteasome 26S subunit, ATPase 4 |
| 5706 | PSMC6; proteasome 26S subunit, ATPase 6 |
| 5702 | PSMC3; proteasome 26S subunit, ATPase 3 |
| 5705 | PSMC5; proteasome 26S subunit, ATPase 5 |
| 5708 | PSMD2; proteasome 26S subunit, non-ATPase 2 |
| 5707 | PSMD1; proteasome 26S subunit, non-ATPase 1 |
| 5709 | PSMD3; proteasome 26S subunit, non-ATPase 3 |
| 5715 | PSMD9; proteasome 26S subunit, non-ATPase 9 |
| 5718 | PSMD12; proteasome 26S subunit, non-ATPase 12 |
| 5717 | PSMD11; proteasome 26S subunit, non-ATPase 11 |
| 9861 | PSMD6; proteasome 26S subunit, non-ATPase 6 |
| 5713 | PSMD7; proteasome 26S subunit, non-ATPase 7 |
| 5719 | PSMD13; proteasome 26S subunit, non-ATPase 13 |
| 5710 | PSMD4; proteasome 26S subunit, non-ATPase 4 |
| 10213 | PSMD14; proteasome 26S subunit, non-ATPase 14 |
| 5714 | PSMD8; proteasome 26S subunit, non-ATPase 8 |
| 11047 | ADRM1; adhesion regulating molecule 1 |
| 7979 | SEM1; SEM1 26S proteasome complex subunit |
|
|---|
| Variant |
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Nishitoh H, Kadowaki H, Nagai A, Maruyama T, Yokota T, Fukutomi H, Noguchi T, Matsuzawa A, Takeda K, Ichijo H |
|---|
| Title |
ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Webster CP, Smith EF, Shaw PJ, De Vos KJ |
|---|
| Title |
Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities? |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
