LRPAP1 Gene Summary [Human]
This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | LRPAP1 |
| Official Name | LDL receptor related protein associated protein 1 [Source:HGNC Symbol;Acc:HGNC:6701] |
| Ensembl ID | ENSG00000163956 |
| Bio databases IDs | |
| Aliases | LDL receptor related protein associated protein 1 |
| Synonyms | A2MRAP, A2RAP, Alpha2 Macroglobulin Receptor-Associated, alpha-2-MRAP, HBP44, Heparin binding protein44, LDL receptor related protein associated protein 1, LOC100289219, LOC100290567, LOC100293188, low density lipoprotein receptor-related protein associated protein 1, MRAP, MYP23, RAP, α-2-MRAP |
| 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 LRPAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha-2-macroglobulin RAP, C-terminal domain
- receptor antagonist activity
- Alpha-2-macroglobulin RAP, N-terminal domain
- enzyme binding
- receptor agonist activity
- central domain
- beta-amyloid binding
- protein binding
- low-density lipoprotein receptor binding
- receptor binding
- Receptor-associated protein (RAP)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive myopia type 23
- metabolic syndrome X
- coronary artery disease
- astrocytosis
- Alzheimer disease
- central obesity
- cleft palate
- neuroinflammation
role in cell
- upregulation in
- expression in
- cell death
- apoptosis
- binding
- function
- production in
- activation in
- phosphorylation in
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- Extracellular Space
- cellular membrane
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- ER-to-Golgi intermediate compartment
- cis face of the Golgi apparatus
- cis Golgi networks
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRPAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of very-low-density lipoprotein particle clearance
- negative regulation of receptor internalization
- signal transduction
- positive regulation of beta-amyloid clearance
- negative regulation of beta-amyloid clearance
- regulation of receptor-mediated endocytosis
- negative regulation of protein binding
- extracellular negative regulation of signal transduction
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum
- Golgi apparatus
- rough endoplasmic reticulum lumen
- endoplasmic reticulum-Golgi intermediate compartment
- extracellular region
- Golgi lumen
- plasma membrane
- cell surface
- cis-Golgi network
- endosome
- endosome lumen
- endomembrane system
Molecular Function
What the gene product does at the molecular level
- lipase binding
- protein binding
- low-density lipoprotein particle receptor binding
- receptor antagonist activity
- heparin binding
- receptor agonist activity
- receptor binding
- beta-amyloid binding
- very-low-density lipoprotein particle receptor binding