| Gene Symbol | SORL1 |
|---|---|
| Entrez Gene | 6653 |
| Alt Symbol | C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250 |
| Species | Human |
| Gene Type | protein-coding |
| Description | sortilin-related receptor, L(DLR class) A repeats containing |
| Other Description | LDLR relative with 11 ligand-binding repeats|low-density lipoprotein receptor relative with 11 ligand-binding repeats|mosaic protein LR11|sortilin-related receptor|sortilin-related receptor, L(DLR class) A repeats-containing|sorting protein-related receptor containing LDLR class A repeats |
| Swissprots | Q92673 B2RNX7 Q92856 |
| Accessions | CCQ43198 EAW67524 EAW67525 EAW67526 EAW67527 Q92673 AI358248 AK025583 AK096577 AK294404 BAG57656 AK295090 BAG58131 AK295878 BAG58675 AK302589 BAG63842 AK309523 AK316340 BAH14711 BC032903 BC040643 BC137171 AAI37172 BQ888333 BX365721 DA386525 DB499706 DN831521 U90916 Y08110 CAA69325 XM_011542963 XP_011541265 XM_011542964 XP_011541266 XM_011542965 XP_011541267 XM_011542966 XP_011541268 XM_011542967 XP_011541269 NM_003105 NP_003096 |
| Function | 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. {ECO:0000269|PubMed:14764453, ECO:0000269|PubMed:16174740}. |
| Subcellular Location | Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Golgi apparatus. Endosome. Secreted. |
| Tissue Specificity | Expressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and the occipital pole; low expression in the putamen and the thalamus. Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease. According to PubMed:9157966, found in spinal cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to PubMed:8940146, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung, skeletal muscle, bone marrow and adrenals. {ECO:0000269|PubMed:16174740}. |