SMCR8
E561100
SMCR8 is a protein implicated in autophagy and lysosomal regulation, often studied for its functional partnership with C9orf72 in neurodegenerative disease pathways.
Statements (46)
| Predicate | Object |
|---|---|
| instanceOf |
autophagy regulator
ⓘ
lysosomal regulator ⓘ protein ⓘ |
| associatedWith |
C9orf72
NERFINISHED
ⓘ
amyotrophic lateral sclerosis ⓘ frontotemporal dementia ⓘ neurodegeneration ⓘ |
| encodedIn | Homo sapiens genome ⓘ |
| expressedIn |
brain
ⓘ
immune cells ⓘ neurons ⓘ |
| formsComplexWith |
C9orf72
ⓘ
WDR41 NERFINISHED ⓘ |
| fullName | SMCR8 protein NERFINISHED ⓘ |
| geneticInteractionWith | C9orf72 NERFINISHED ⓘ |
| interactsWith | Rab GTPases NERFINISHED ⓘ |
| involvedIn |
TFEB regulation
ⓘ
autophagy ⓘ endolysosomal trafficking ⓘ lysosomal homeostasis ⓘ lysosome biogenesis regulation ⓘ mTORC1 signaling regulation ⓘ macroautophagy ⓘ neuronal homeostasis ⓘ |
| localizesTo |
autophagosome
ⓘ
cytoplasm ⓘ endosome ⓘ lysosome ⓘ |
| lossOfFunctionLeadsTo |
abnormal lysosomal accumulation
ⓘ
altered mTORC1 signaling ⓘ impaired autophagy ⓘ |
| molecularFunction | putative DENN-like Rab-GEF activity ⓘ |
| negativelyRegulates | mTORC1 activity ⓘ |
| orthologFoundIn |
Drosophila melanogaster
NERFINISHED
ⓘ
mouse ⓘ zebrafish ⓘ |
| participatesIn | C9orf72–SMCR8–WDR41 complex NERFINISHED ⓘ |
| positivelyRegulates | TFEB nuclear translocation ⓘ |
| regulates |
autophagic flux
ⓘ
lysosomal exocytosis ⓘ lysosomal positioning ⓘ |
| requiredFor | C9orf72 protein stability ⓘ |
| stabilizes | C9orf72 protein NERFINISHED ⓘ |
| studiedInContextOf |
C9orf72-related ALS
NERFINISHED
ⓘ
C9orf72-related FTD ⓘ |
| taxon | Homo sapiens NERFINISHED ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.