LDLRAP1 Gene Summary [Human]
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LDLRAP1 |
| Official Name | low density lipoprotein receptor adaptor protein 1 [Source:HGNC Symbol;Acc:HGNC:18640] |
| Ensembl ID | ENSG00000157978 |
| Bio databases IDs | |
| Aliases | low density lipoprotein receptor adaptor protein 1, autosomal recessive hypercholesterolemia |
| Synonyms | ARH, ARH1, ARH2, FHCB1, FHCB2, FHCL4, low density lipoprotein receptor adaptor protein 1, RGD1563417 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LDLRAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- clathrin binding domain
- phosphorylation inhibitory motif
- clathrin box motif
- protein binding activity, bridging
- clathrin binding
- phosphotyrosine binding
- low-density lipoprotein receptor binding
- protein binding
- receptor binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- beta-amyloid binding
- binding protein
- receptor signaling complex scaffold protein
- phosphatidylinositol-4,5-bisphosphate binding
- transporter
- Ap-2 binding domain
Pathways
Biological processes and signaling networks where the LDLRAP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- homozygous autosomal recessive hypercholesterolemia 4
- Alzheimer disease
- familial hypercholesterolemia
- autosomal recessive familial hypercholesterolemia 4
- hyperlipidemia
- autosomal recessive hypercholesterolemia
- septic shock
- hypercholesterolemia
role in cell
- expression in
- growth
- migration
- quantity
- size
- invasion by
- invasion
- association in
- degradation in
- cytokinesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endocytic vesicle membrane
- cell surface
- Golgi region
- perinuclear region
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- centrosome
- cytosol
- basolateral cytoplasm
- cytoplasmic face of plasma membrane
- basolateral membrane
- basal membrane
- spindle pole
- neurofilaments
- recycling endosomes
- early endosomes
- clathrin-coated pits
- kinetochores
- axons
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LDLRAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cholesterol metabolic process
- low-density lipoprotein particle clearance
- receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport
- cholesterol metabolic process
- amyloid precursor protein metabolic process
- receptor-mediated endocytosis
- cholesterol homeostasis
- regulation of protein binding
- cellular response to cytokine stimulus
- cholesterol transport
- receptor internalization
- positive regulation of receptor-mediated endocytosis
Cellular Component
Where in the cell the gene product is active
- basal plasma membrane
- early endosome
- clathrin-coated endocytic vesicle membrane
- cytosol
- recycling endosome
- neurofilament
- axon
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphotyrosine binding
- AP-1 adaptor complex binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- low-density lipoprotein particle receptor binding
- signaling adaptor activity
- clathrin adaptor activity
- clathrin binding
- beta-amyloid binding
- receptor signaling complex scaffold activity
- AP-2 adaptor complex binding