SORL1 Gene Summary [Human]
This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
Details
| Type | Protein Coding |
| Official Symbol | SORL1 |
| Official Name | sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185] |
| Ensembl ID | ENSG00000137642 |
| Bio databases IDs | |
| Aliases | sortilin related receptor 1, LDLR relative with 11 ligand-binding repeats |
| Synonyms | 2900010L19Rik, C11orf32, gp250, LOC102547257, LR11, LRP9, mSorLA, RGD619914, SORLA, SorLA-1, SORTILIN-RELATED receptor, sortilin related receptor 1, sortilin-related receptor, LDLR class A repeats-containing |
| 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 SORL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fibronectin type 3 domain
- low-density lipoprotein binding
- Sortilin, neurotensin receptor 3, C-terminal
- Sortilin, neurotensin receptor 3,
- cytoplasmic domain
- VPS10 domain
- intracellular domain
- LDLa
- tail domain
- transmembrane receptor
- aspartic protease inhibitor
- ectodomain
- Vps10p domain
- enzyme binding
- protein binding
- beta-amyloid binding
- Low-density lipoprotein receptor repeat class B
- acidic domain
- complement-type repeat
- neuropeptide binding
- FN3
- GGA homology domain
- low-density lipoprotein receptor
- cytosolic tail domain
- Low-density lipoprotein-receptor YWTD domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastroesophageal reflux
- epithelial cancer
- neoplasia
- overall survival
- liver cancer
- Alzheimer disease
- hepatitis B virus-related hepatocellular carcinoma
- androgenic alopecia
- complicated hereditary spastic paraplegia
- spontaneous preterm birth
role in cell
- expression in
- cell death
- size
- phosphorylation in
- degradation in
- binding
- migration
- accumulation
- abnormal morphology
- internalization by
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
- early endosomal fractions
- Golgi-enriched fraction
- membrane fraction
- basal dendrites
- cell surface
- Extracellular Space
- perinuclear region
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- Golgi membrane
- trans Golgi network
- endosomal membrane
- perinucleolar compartments
- perinuclear space
- recycling endosomes
- early endosomes
- perinuclear vesicles
- GLUT4 vesicles
- multivesicular bodies
- Golgi cisternae
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SORL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of insulin receptor signaling pathway
- protein localization in Golgi apparatus
- positive regulation of glial cell line-derived neurotrophic factor secretion
- positive regulation of protein catabolic process
- insulin receptor recycling
- post-Golgi vesicle-mediated transport
- protein targeting to lysosome
- receptor-mediated endocytosis
- diet induced thermogenesis
- negative regulation of BMP signaling pathway
- protein targeting
- protein retention in Golgi apparatus
- neuropeptide signaling pathway
- positive regulation of endocytic recycling
- negative regulation of triglyceride catabolic process
- positive regulation of protein exit from endoplasmic reticulum
- negative regulation of protein complex assembly
- protein maturation
- negative regulation of neurogenesis
- regulation of smooth muscle cell migration
- cell migration
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
- multivesicular body
- neuronal cell body
- nuclear envelope lumen
- plasma membrane
- cell surface
- endoplasmic reticulum membrane
- early endosome membrane
- extracellular space
- early endosome
- trans-Golgi network
- endosome
- extracellular vesicular exosome
- transport vesicle membrane
- membrane
- recycling endosome
- endosome membrane
- multivesicular body membrane
- recycling endosome membrane
- Golgi cisterna
Molecular Function
What the gene product does at the molecular level
- neuropeptide binding
- transmembrane signaling receptor activity
- protein binding
- aspartic-type endopeptidase inhibitor activity
- low-density lipoprotein receptor activity
- small GTPase binding
- low-density lipoprotein particle binding
- beta-amyloid binding