Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Gene Ontology annotation based on curation of immunofluorescence data

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

Next-generation sequencing to generate interactome datasets.

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

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

A proteome-scale map of the human interactome network.

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

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

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

Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

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

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

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

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.

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

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.

A reference map of the human binary protein interactome.

Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a.

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy.

Reviewed UniProtKB C9orf72 record (Q96LT7)

Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD.

Structural basis for the ARF GAP activity and specificity of the C9orf72 complex.