TOR1A
Gene Ontology Biological Process
- ATP catabolic process [IDA]
- ER-associated misfolded protein catabolic process [ISS]
- cell adhesion [IMP]
- chaperone-mediated protein folding [IDA]
- chaperone-mediated protein transport [IDA]
- intermediate filament cytoskeleton organization [IMP]
- neuron projection development [IMP]
- nuclear envelope organization [ISS]
- nuclear membrane organization [ISS]
- organelle organization [ISS]
- positive regulation of synaptic vesicle endocytosis [IMP]
- protein deneddylation [IMP]
- protein homooligomerization [IDA]
- protein localization to nucleus [IMP, ISS]
- regulation of dopamine uptake involved in synaptic transmission [IDA]
- regulation of protein localization to cell surface [IMP]
- synaptic vesicle transport [IMP]
- wound healing, spreading of cells [ISS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- cytoplasmic vesicle membrane [ISS]
- endoplasmic reticulum lumen [IDA]
- extracellular vesicular exosome [IDA]
- extrinsic component of endoplasmic reticulum membrane [IDA]
- growth cone [ISS]
- intracellular membrane-bounded organelle [IDA]
- membrane [IDA]
- nuclear envelope [ISS]
- nuclear membrane [IDA]
- secretory granule [ISS]
- synaptic vesicle [IDA]
SGCE
Gene Ontology Molecular Function
Gene Ontology Cellular Component
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
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Myoclonus-dystonia syndrome (MDS) is a genetically heterogeneous disorder characterized by myoclonic jerks often seen in combination with dystonia and psychiatric co-morbidities and epilepsy. Mutations in the gene encoding epsilon-sarcoglycan (SGCE) have been found in some patients with MDS. SGCE is a maternally imprinted gene with the disease being inherited in an autosomal dominant pattern with reduced penetrance upon maternal transmission. ... [more]
Throughput
- Low Throughput
Additional Notes
- tor1a not confirmed human
Curated By
- BioGRID