Aliases for SORL1 Gene
- Sortilin-Related Receptor, L(DLR Class) A Repeats Containing 2 3
- LDLR Relative With 11 Ligand-Binding Repeats 2 3 4
- SORLA 3 4 6
- LR11 3 4 6
- Low-Density Lipoprotein Receptor Relative With 11 Ligand-Binding Repeats 3 4
- Sorting Protein-Related Receptor Containing LDLR Class A Repeats 3 4
- Sortilin-Related Receptor, L(DLR Class) A Repeats-Containing 2 3
- C11orf32 3 4
External Ids for SORL1 Gene
Previous Symbols for SORL1 Gene
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 protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease.[provided by RefSeq, Sep 2010]
GeneCards Summary for SORL1 Gene
SORL1 (Sortilin-Related Receptor, L(DLR Class) A Repeats Containing) is a Protein Coding gene. Diseases associated with SORL1 include alzheimer disease and early-onset autosomal dominant alzheimer disease. GO annotations related to this gene include transmembrane signaling receptor activity and low-density lipoprotein particle binding. An important paralog of this gene is SORCS2.
UniProtKB/Swiss-Prot for SORL1 Gene
Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization.