C9orf72-SMCR8 complex subunit (Q21102398)

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/Q96LT7

1 reference

13 November 2019

1 reference

13 November 2019

7 references

8 April 2019

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

A proteome-scale map of the human interactome network

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Next-generation sequencing to generate interactome datasets

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Pooled-matrix protein interaction screens using Barcode Fusion Genetics

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

cell component

extracellular region

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

lysosome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

3 references

8 April 2019

8 April 2019

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

cytoplasmic vesicle

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

nucleus

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

4 references

8 April 2019

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

extracellular space

1 reference

27 March 2018

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

guanyl-nucleotide exchange factor complex

1 reference

8 April 2019

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

cytoplasm

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

4 references

8 April 2019

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

Atg1/ULK1 kinase complex

1 reference

8 April 2019

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

axonal growth cone

1 reference

8 April 2019

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

main axon

1 reference

8 April 2019

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

axon

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

growth cone

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

cell projection

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

perikaryon

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

3 references

21 June 2018

21 June 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

21 June 2018

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

neuron projection

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

endosome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

3 references

8 April 2019

8 April 2019

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

autophagosome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

3 references

8 April 2019

8 April 2019

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

dendrite

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

nuclear membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

1 reference

8 April 2019

biological process

endocytosis

1 reference

21 June 2018

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

positive regulation of macroautophagy

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

IGI

regulation of autophagy

1 reference

27 March 2018

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

regulation of TORC1 signaling

1 reference

27 March 2018

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

negative regulation of protein phosphorylation

1 reference

27 March 2018

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

stress granule assembly

1 reference

8 April 2019

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

axon extension

1 reference

27 March 2018

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

regulation of actin filament organization

1 reference

27 March 2018

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

late endosome to lysosome transport

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q96LT7&geneProductId=UniProtKB:Q96LT7

1 reference

27 March 2018

regulation of autophagosome assembly

ISS

1 reference

8 April 2019

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

negative regulation of GTP binding

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

endocytosis

autophagy

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7

8 April 2019

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q96LT7