SMCR8

E561100

SMCR8 is a protein implicated in autophagy and lysosomal regulation, often studied for its functional partnership with C9orf72 in neurodegenerative disease pathways.

All labels observed (2)

Label Occurrences
SMCR8 protein 2
SMCR8 canonical 1

How this entity was disambiguated

Statements (46)

Predicate Object
instanceOf autophagy regulator
lysosomal regulator
protein
associatedWith C9orf72
amyotrophic lateral sclerosis
frontotemporal dementia
neurodegeneration
encodedIn Homo sapiens genome
expressedIn brain
immune cells
neurons
formsComplexWith C9orf72
WDR41
fullName SMCR8 protein
linked to: SMCR8
geneticInteractionWith C9orf72
interactsWith Rab GTPases
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
mouse
zebrafish
participatesIn C9orf72–SMCR8–WDR41 complex
linked to: SMCR8-WDR41 complex
positivelyRegulates TFEB nuclear translocation
regulates autophagic flux
lysosomal exocytosis
lysosomal positioning
requiredFor C9orf72 protein stability
stabilizes C9orf72 protein
linked to: C9orf72
studiedInContextOf C9orf72-related ALS
linked to: C9orf72

C9orf72-related FTD
taxon Homo sapiens

How these facts were elicited

Referenced by (3)

Full triples — surface form annotated when it differs from this entity's canonical label.

C9orf72 interactsWith SMCR8
SMCR8 fullName SMCR8 protein
linked to: SMCR8
SMCR8-WDR41 complex hasPart SMCR8 protein
linked to: SMCR8