ERN1
Gene Ontology Biological Process
- HAC1-type intron splice site recognition and cleavage [IDA]
- RNA phosphodiester bond hydrolysis, endonucleolytic [IDA, TAS]
- RNA splicing [IMP]
- activation of signaling protein activity involved in unfolded protein response [IDA, TAS]
- cell cycle arrest [ISS]
- cellular protein metabolic process [TAS]
- cellular response to vascular endothelial growth factor stimulus [IDA]
- endoplasmic reticulum unfolded protein response [TAS]
- endothelial cell proliferation [IDA]
- mRNA cleavage [IDA]
- mRNA splicing, via endonucleolytic cleavage and ligation [IDA]
- peptidyl-serine autophosphorylation [IDA]
- positive regulation of RNA splicing [IDA]
- positive regulation of endoplasmic reticulum unfolded protein response [IMP]
- protein phosphorylation [IDA]
- protein trans-autophosphorylation [IMP]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
PSEN1
Gene Ontology Biological Process
- Notch receptor processing [IBA, TAS]
- amyloid precursor protein catabolic process [IBA, TAS]
- beta-amyloid metabolic process [IBA]
- calcium ion transmembrane transport [IMP]
- canonical Wnt signaling pathway [IBA]
- endoplasmic reticulum calcium ion homeostasis [IDA, IGI]
- extracellular matrix disassembly [TAS]
- extracellular matrix organization [TAS]
- membrane protein ectodomain proteolysis [IDA]
- negative regulation of apoptotic process [IDA]
- positive regulation of catalytic activity [IDA]
- protein processing [IDA]
- regulation of phosphorylation [IDA]
- single organismal cell-cell adhesion [IMP]
- smooth endoplasmic reticulum calcium ion homeostasis [IBA]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- Golgi apparatus [IDA]
- Z disc [IBA]
- apical plasma membrane [IBA]
- axon [IBA]
- cell cortex [IBA]
- cell surface [IBA]
- centrosome [IDA]
- ciliary rootlet [IBA]
- dendritic shaft [IBA]
- endoplasmic reticulum [IDA]
- gamma-secretase complex [IDA]
- growth cone [IBA]
- integral component of membrane [TAS]
- integral component of plasma membrane [IDA]
- kinetochore [IDA]
- lysosomal membrane [IBA]
- membrane [IDA]
- membrane raft [IBA, IDA]
- mitochondrial inner membrane [IBA]
- mitochondrion [IDA]
- neuromuscular junction [IBA]
- neuronal cell body [IBA]
- nuclear membrane [IDA]
- nuclear outer membrane [IDA]
- perinuclear region of cytoplasm [IBA]
- rough endoplasmic reticulum [IDA]
- smooth endoplasmic reticulum [IDA]
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
Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response.
Missense mutations in the human presenilin-1 (PS1) gene, which is found on chromosome 14, cause early-onset familial Alzheimer's disease (FAD). FAD-linked PS1 variants alter proteolytic processing of the amyloid precursor protein and cause an increase in vulnerability to apoptosis induced by various cell stresses. However, the mechanisms responsible for these phenomena are not clear. Here we report that mutations in ... [more]
Throughput
- Low Throughput
Curated By
- BioGRID