C9ORF72
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
RAB8A
Gene Ontology Biological Process
- G2/M transition of mitotic cell cycle [TAS]
- GTP catabolic process [IBA, IDA]
- Golgi vesicle fusion to target membrane [IDA]
- Rab protein signal transduction [IBA]
- axonogenesis [ISS]
- cellular response to insulin stimulus [IBA, ISS]
- cilium assembly [IDA, IMP]
- intracellular protein transport [IBA]
- membrane organization [TAS]
- mitotic cell cycle [TAS]
- protein localization to plasma membrane [IBA, ISS]
- protein secretion [IBA]
- regulation of exocytosis [IBA]
- synaptic vesicle exocytosis [IBA]
- vesicle docking involved in exocytosis [IDA]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- Golgi membrane [TAS]
- centrosome [IDA]
- cilium [IDA]
- cytoplasmic vesicle membrane [TAS]
- extracellular vesicular exosome [IDA]
- nonmotile primary cilium [IDA]
- nucleolus [IDA]
- nucleoplasm [IDA]
- nucleus [IDA]
- phagocytic vesicle [IDA]
- plasma membrane [IBA, IDA]
- primary cilium [IDA]
- recycling endosome membrane [IDA]
- secretory granule membrane [IBA]
- synaptic vesicle [IBA]
- trans-Golgi network transport vesicle [IBA]
Affinity Capture-Western
An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and the associated interaction partner identified by Western blot with a specific polyclonal antibody or second epitope tag. This category is also used if an interacting protein is visualized directly by dye stain or radioactivity. Note that this differs from any co-purification experiment involving affinity capture in that the co-purification experiment involves at least one extra purification step to get rid of potential contaminating proteins.
Publication
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
An intronic expansion of GGGGCC repeats within the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). Ataxin-2 with intermediate length of polyglutamine expansions (Ataxin-2 Q30x) is a genetic modifier of the disease. Here, we found that C9ORF72 forms a complex with the WDR41 and SMCR8 proteins to act as a GDP/GTP exchange ... [more]
Throughput
- Low Throughput
Curated By
- BioGRID