SORL1
Gene Information
- Official Symbol: SORL1
- Official Name: sortilin related receptor 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 6653
- UniProt: Q92673
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: 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}.
Pfam Domains GO Terms
Pfam Domains
| Ldl recept a |
| fn3 |
| Ldl recept b |
GO Terms
| negative regulation of neurofibrillary tangle assembly |
| regulation of choline O-acetyltransferase activity |
| insulin receptor recycling |
| positive regulation of choline O-acetyltransferase activity |
| positive regulation of early endosome to recycling endosome transport |
| negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process |
| regulation of early endosome to recycling endosome transport |
| negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| regulation of neurofibrillary tangle assembly |
| regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process |
| negative regulation of aspartic-type peptidase activity |
| negative regulation of tau-protein kinase activity |
| negative regulation of metalloendopeptidase activity |
| positive regulation of ER to Golgi vesicle-mediated transport |
| protein retention in Golgi apparatus |
| positive regulation of endocytic recycling |
| negative regulation of triglyceride catabolic process |
| negative regulation of metallopeptidase activity |
| positive regulation of adipose tissue development |
| regulation of metalloendopeptidase activity |
| regulation of protein localization to early endosome |
| positive regulation of protein localization to early endosome |
| ADP-ribosylation factor binding |
| nuclear envelope lumen |
| regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| negative regulation of triglyceride metabolic process |
| regulation of adipose tissue development |
| regulation of endocytic recycling |
| Golgi cisterna |
| negative regulation of inclusion body assembly |
| positive regulation of protein localization to endosome |
| regulation of aspartic-type peptidase activity |
| regulation of tau-protein kinase activity |
| regulation of protein localization to endosome |
| low-density lipoprotein particle receptor activity |
| receptor recycling |
| diet induced thermogenesis |
| regulation of triglyceride catabolic process |
| negative regulation of amyloid-beta formation |
| positive regulation of cytoplasmic transport |
| regulation of metallopeptidase activity |
| positive regulation of protein exit from endoplasmic reticulum |
| negative regulation of amyloid precursor protein catabolic process |
| low-density lipoprotein particle |
| regulation of inclusion body assembly |
| regulation of ER to Golgi vesicle-mediated transport |
| low-density lipoprotein particle binding |
| negative regulation of protein oligomerization |
| adaptive thermogenesis |
| protein targeting to lysosome |
| positive regulation of insulin receptor signaling pathway |
| negative regulation of lipid catabolic process |
| positive regulation of cellular response to insulin stimulus |
| regulation of cytoplasmic transport |
| regulation of protein exit from endoplasmic reticulum |
| response to dietary excess |
| regulation of amyloid-beta formation |
| protein localization to Golgi apparatus |
| multivesicular body |
| regulation of amyloid precursor protein catabolic process |
| regulation of triglyceride metabolic process |
| protein targeting to vacuole |
| protein localization to lysosome |
| regulation of protein oligomerization |
| establishment of protein localization to vacuole |
| negative regulation of BMP signaling pathway |
| regulation of lipid catabolic process |
| regulation of smooth muscle cell migration |
| protein localization to vacuole |
| regulation of insulin receptor signaling pathway |
| regulation of cellular response to insulin stimulus |
| negative regulation of MAP kinase activity |
| maintenance of protein location in cell |
| amyloid-beta binding |
| negative regulation of lipid metabolic process |
| regulation of BMP signaling pathway |
| maintenance of location in cell |
| post-Golgi vesicle-mediated transport |
| negative regulation of protein binding |
| receptor metabolic process |
| maintenance of protein location |
| lysosomal transport |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway |
| recycling endosome |
| cholesterol metabolic process |
| secondary alcohol metabolic process |
| negative regulation of protein complex assembly |
| negative regulation of protein serine/threonine kinase activity |
| sterol metabolic process |
| transmembrane signaling receptor activity |
| vacuolar transport |
| negative regulation of cellular response to growth factor stimulus |
| negative regulation of cellular amide metabolic process |
| positive regulation of intracellular protein transport |
| maintenance of location |
| negative regulation of MAPK cascade |
| trans-Golgi network |
| negative regulation of binding |
| negative regulation of neuron death |
| positive regulation of intracellular transport |
| endosome membrane |
| positive regulation of protein catabolic process |
| regulation of protein binding |
| protein maturation |
| negative regulation of protein kinase activity |
| regulation of intracellular protein transport |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway |
| receptor-mediated endocytosis |
| negative regulation of endopeptidase activity |
| negative regulation of kinase activity |
| negative regulation of cellular catabolic process |
| negative regulation of peptidase activity |
| early endosome |
| steroid metabolic process |
| endosome |
| regulation of cellular response to growth factor stimulus |
| negative regulation of transferase activity |
| negative regulation of neurogenesis |
| lipid transport |
| negative regulation of catabolic process |
| regulation of neuron death |
| negative regulation of nervous system development |
| alcohol metabolic process |
| lipid localization |
| positive regulation of cellular protein localization |
| negative regulation of cell development |
| regulation of MAP kinase activity |
| regulation of intracellular transport |
| negative regulation of proteolysis |
| protein targeting |
| Golgi vesicle transport |
| regulation of binding |
| regulation of protein catabolic process |
| regulation of lipid metabolic process |
| regulation of cellular amide metabolic process |
| negative regulation of protein phosphorylation |
| regulation of endopeptidase activity |
| positive regulation of protein transport |
| establishment of protein localization to organelle |
| positive regulation of catabolic process |
| negative regulation of phosphorylation |
| regulation of peptidase activity |
| regulation of protein complex assembly |
| negative regulation of hydrolase activity |
| organic hydroxy compound metabolic process |
| positive regulation of establishment of protein localization |
| response to nutrient levels |
| negative regulation of intracellular signal transduction |
| regulation of protein serine/threonine kinase activity |
| response to extracellular stimulus |
| regulation of cellular protein localization |
| regulation of vesicle-mediated transport |
| endocytosis |
| negative regulation of phosphate metabolic process |
| negative regulation of phosphorus metabolic process |
| negative regulation of protein modification process |
| Golgi membrane |
| positive regulation of transferase activity |
| import into cell |
| negative regulation of cellular component organization |
| regulation of protein transport |
| negative regulation of cell differentiation |
| regulation of proteolysis |
| protein localization to organelle |
| regulation of peptide transport |
| regulation of establishment of protein localization |
| regulation of MAPK cascade |
| negative regulation of catalytic activity |
| regulation of protein kinase activity |
| regulation of neurogenesis |
| regulation of cellular catabolic process |
| regulation of cell migration |
| regulation of kinase activity |
| regulation of cell motility |
| regulation of cellular localization |
| regulation of nervous system development |
| regulation of cell development |
| negative regulation of developmental process |
| regulation of cellular component biogenesis |
| regulation of transferase activity |
| regulation of locomotion |
| Golgi apparatus |
| positive regulation of transport |
| negative regulation of cell death |
| regulation of catabolic process |
| regulation of cellular component movement |
| intracellular protein transport |
| endoplasmic reticulum |
| regulation of protein localization |
| negative regulation of cellular protein metabolic process |
| negative regulation of protein metabolic process |
| negative regulation of molecular function |
| negative regulation of multicellular organismal process |
| lipid metabolic process |
| negative regulation of signal transduction |
| regulation of hydrolase activity |
| negative regulation of cell communication |
| negative regulation of signaling |
| positive regulation of developmental process |
| integral component of plasma membrane |
| positive regulation of catalytic activity |
| regulation of protein phosphorylation |
| protein transport |
| intracellular transport |
| generation of neurons |
| peptide transport |
| amide transport |
| cellular protein localization |
| regulation of phosphorylation |
| cellular macromolecule localization |
| extracellular space |
| establishment of protein localization |
| negative regulation of response to stimulus |
| neurogenesis |
| positive regulation of signal transduction |
| regulation of cell death |
| positive regulation of protein metabolic process |
| positive regulation of multicellular organismal process |
| small molecule metabolic process |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| regulation of intracellular signal transduction |
| establishment of localization in cell |
| regulation of protein modification process |
| nitrogen compound transport |
| regulation of transport |
| vesicle-mediated transport |
| membrane |
| gene expression |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| Dimethyl-Sulfoxide 1pc R03 exp120 | -2.14 |
| Milciclib 2μM R08 exp502 | -2.06 |
| Pterostilbene 16μM R02 exp78 | -2.02 |
| GW501516 25μM R06 exp285 | -1.81 |
| FTY720 3μM R08 exp483 | 1.76 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 16776
- Expression level (log2 read counts): 8.63
Expression Distribution
SORL1 Expression in NALM6 Cells: 8.63
