about
P688
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathA C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyThe ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.Intermediate C9orf72 alleles in neurological disorders: does size really matter?C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress.The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.Molecular Mechanisms of Neurodegeneration Related to Hexanucleotide Repeat Expansion
P921
Q24337586-39C3D8FC-7464-4204-89C0-6C41B25A96A3Q28854599-DCF8F8C8-0FF4-46AB-B217-78177A84C810Q29465530-4773267C-8CC0-47B5-BF1B-8259309FECEAQ29465536-8656AFBB-657C-4D77-8905-DCA984D9F5E6Q29465782-71FE8E52-EB73-4117-A9C8-14D1B6BBA134Q38688065-2390089C-4FC3-4285-A2BE-4156212783AAQ38781435-D2C9F9FE-CF95-452C-9063-94C3D8A5FEAFQ39662062-45E7381F-E60E-4D92-97D2-5FCF1A2B30D7Q42425843-14B9271C-48FC-4436-98A6-84D6013FDD5EQ51371013-A7A56840-6AF7-43A3-88F0-7B23AC498CB5Q61816243-C296D26F-7255-4550-9EC4-476D3F18E88B
P921
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
protein
@sv
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
C9orf72-SMCR8 complex subunit
@en
C9orf72-SMCR8 complex subunit
@nl
protéine C9orf72
@fr
type
label
C9orf72-SMCR8 complex subunit
@en
C9orf72-SMCR8 complex subunit
@nl
protéine C9orf72
@fr
altLabel
C9orf72
@en
guanine nucleotide exchange C9orf72
@en
protein C9orf72
@en
prefLabel
C9orf72-SMCR8 complex subunit
@en
C9orf72-SMCR8 complex subunit
@nl
protéine C9orf72
@fr
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D000073885
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NP_001242983
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ENSP00000369331
ENSP00000369333
ENSP00000369339
ENSP00000482753
ENSP00000494839
ENSP00000494872
ENSP00000500650