LDLR
Gene Ontology Biological Process
- cholesterol homeostasis [IMP]
- cholesterol import [ISS]
- cholesterol transport [IMP]
- endocytosis [TAS]
- intestinal cholesterol absorption [IMP]
- lipid metabolic process [TAS]
- lipoprotein metabolic process [TAS]
- low-density lipoprotein particle clearance [IMP]
- phospholipid transport [ISS]
- phototransduction, visible light [TAS]
- positive regulation of triglyceride biosynthetic process [ISS]
- receptor-mediated endocytosis [TAS]
- regulation of phosphatidylcholine catabolic process [ISS]
- retinoid metabolic process [TAS]
- small molecule metabolic process [TAS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- Golgi apparatus [IDA]
- cell surface [IDA]
- clathrin-coated endocytic vesicle membrane [TAS]
- coated pit [IDA]
- early endosome [IDA]
- endosome membrane [TAS]
- external side of plasma membrane [IDA]
- integral component of plasma membrane [TAS]
- late endosome [IDA]
- lysosome [IDA]
- membrane [IDA]
- plasma membrane [TAS]
- receptor complex [IDA]
CANX
Gene Ontology Biological Process
- antigen processing and presentation of exogenous peptide antigen via MHC class II [TAS]
- antigen processing and presentation of peptide antigen via MHC class I [TAS]
- cellular protein metabolic process [TAS]
- clathrin-mediated endocytosis [ISS]
- post-translational protein modification [TAS]
- protein N-linked glycosylation via asparagine [TAS]
- protein folding [TAS]
- protein secretion [TAS]
- synaptic vesicle endocytosis [ISS]
Gene Ontology Molecular Function
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
Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress.
Familial hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR). More than 50% of these mutations lead to receptor proteins that are completely or partly retained in the endoplasmic reticulum (ER). The mechanisms involved in the intracellular processing and retention of mutant LDLR are poorly understood. In the present study ... [more]
Throughput
- Low Throughput
Curated By
- BioGRID