SORCS1
Sortilin Related VPS10 Domain Containing Receptor 1
Gene Information Card
| Symbol | SORCS1 |
|---|---|
| Full Name | Sortilin Related VPS10 Domain Containing Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 114815 ncbi.nlm.nih.gov/gene/114815 |
| Ensembl ID | ENSG00000108018 |
| UniProt ID | Q8WY21 |
| OMIM ID | 606283 |
| HGNC ID | 16697 |
| Aliases | SORCS, SORCS1A, SORCS1B, SORCS1C, SORCS1D, SORCS1E, SORCS1F |
Description
SORCS1 encodes a member of the VPS10 domain-containing receptor family, which functions in intracellular trafficking and sorting of proteins. The protein is involved in the regulation of amyloid precursor protein (APP) processing and glucose metabolism. Variants in SORCS1 have been associated with Alzheimer disease and type 2 diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Altered APP trafficking and processing leading to increased amyloid-beta production | OMIM: 606283; ClinVar |
| Type 2 diabetes | Impaired insulin secretion and glucose homeostasis via disrupted intracellular sorting | OMIM: 606283; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Adipose tissue | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line |
| HEK293 | 10.2 | Embryonic kidney cells |
| MIN6 | 9.8 | Pancreatic beta-cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1784933 | SNP | 0.15 (global) | Intronic; associated with Alzheimer disease risk |
| rs10884402 | SNP | 0.12 (global) | Intronic; associated with type 2 diabetes |
| c.1234C>T | missense | <0.01 | p.Pro412Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Reduced receptor activity leading to impaired APP sorting and increased amyloid-beta
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • receptor activity |
| • intracellular protein transport | • Golgi to endosome transport |
| • amyloid-beta metabolic process |
Pathways
• Alzheimer disease
• VPS10 domain receptor signaling
• Insulin secretion
Protein Summary
The SORCS1 protein is a type I transmembrane receptor with a VPS10 domain, involved in intracellular trafficking. It binds to and regulates the sorting of amyloid precursor protein and other cargo, influencing amyloid-beta production and glucose homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SORCS1 Knockout HEK293 Cell Line | EDJ-KQ6822 | Human | 114815 | Details Get a Quote |
| SORCS1 Knockout HeLa Cell Line | EDJ-KQ57935 | Human | 114815 | Details Get a Quote |
| SORCS1 Knockout A-549 Cell Line | EDJ-KQ66425 | Human | 114815 | Details Get a Quote |
| SORCS1 Knockout HCT 116 Cell Line | EDJ-KQ74851 | Human | 114815 | Details Get a Quote |
