SORT1 Gene Summary [Human]
This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | SORT1 |
| Official Name | sortilin 1 [Source:HGNC Symbol;Acc:HGNC:11186] |
| Ensembl ID | ENSG00000134243 |
| Bio databases IDs | |
| Aliases | sortilin 1 |
| Synonyms | 2900053A11Rik, Glycoprotein 95, Gp95, LDLCQ6, NT3, NTR3, Nts3, NTSR3, Sortilin, sortilin 1 |
| 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 SORT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- BNR-Asp box repeat
- extracellular domain
- neurotensin receptor, non-G-protein coupled
- ectodomain
- neurotrophin p75 receptor
- Vps10p domain
- enzyme binding
- protein binding
- Sortilin, neurotensin receptor 3, C-terminal
- Sortilin, neurotensin receptor 3,
- G-protein coupled neurotensin receptor
- binding protein
- cytoplasmic domain
- VPS10 domain
- lumenal domain
- growth factor binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- epithelial cancer
- major depression
- organismal death
- liver cancer
- Alzheimer disease
- obesity
- atherosclerosis
- diabetes mellitus
- rheumatoid arthritis
role in cell
- proliferation
- apoptosis
- cell death
- expression in
- growth
- migration
- invasion by
- binding
- differentiation
- degradation in
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
- glutaminergic synapse
- cytoplasmic vesicle membrane
- Cytoplasm
- cell surface
- Extracellular Space
- perinuclear region
- postsynaptic region
- cellular membrane
- Nucleus
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi stacks
- trans Golgi network
- endosomal membrane
- neurites
- dendritic trees
- synapse
- early endosomes
- cytoplasmic vesicles
- GLUT4 vesicles
- smooth endoplasmatic reticulum
- secretory granules
- Golgi cisternae
- membrane rafts
- clathrin-coated pits
- perikaryon
- dendrites
- excitatory synapses
- clathrin-coated vesicles
- vesicle fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SORT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- negative regulation of fat cell differentiation
- plasma membrane to endosome transport
- glucose import
- endosome to lysosome transport
- Golgi to lysosome transport
- protein targeting to lysosome
- induction of apoptosis via death domain receptors
- endocytosis
- Golgi to endosome transport
- negative regulation of lipoprotein lipase activity
- nerve growth factor receptor signaling pathway
- neuropeptide signaling pathway
- response to insulin stimulus
- vesicle organization
- ossification
- endosome transport via multivesicular body sorting pathway
- regulation of gene expression
- myotube differentiation
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- trans-Golgi network transport vesicle
- Golgi apparatus
- plasma membrane
- lysosomal membrane
- cell surface
- lysosome
- endoplasmic reticulum membrane
- nuclear membrane
- early endosome
- perinuclear region of cytoplasm
- coated pit
- membrane
- cytoplasmic vesicle
- cytosol
- endosome membrane
- clathrin-coated vesicle
Molecular Function
What the gene product does at the molecular level
- protein binding
- neurotensin receptor activity, non-G-protein coupled
- nerve growth factor binding
- enzyme binding
- nerve growth factor receptor activity