SORL1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sortilin related receptor 1 | MIM:602005 | Ensembl:ENSG00000137642 | HGNC:HGNC:11185 | PA36022 | 11q24.1 |
GO terms in SORL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0006605 | protein targeting |
| BP | IMP | GO:0006605 | protein targeting |
| BP | IDA | GO:0006622 | protein targeting to lysosome |
| BP | IEA | GO:0006869 | lipid transport |
| BP | IDA | GO:0006892 | post-Golgi vesicle-mediated transport |
| BP | TAS | GO:0006898 | receptor-mediated endocytosis |
| BP | IEA | GO:0007165 | signal transduction |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IDA | GO:0014910 | regulation of smooth muscle cell migration |
| BP | IDA | GO:0032091 | negative regulation of protein binding |
| BP | IMP | GO:0032460 | negative regulation of protein oligomerization |
| BP | IDA | GO:0034067 | protein localization to Golgi apparatus |
| BP | ISS | GO:0043407 | negative regulation of MAP kinase activity |
| BP | TAS | GO:0044267 | cellular protein metabolic process |
| BP | IDA | GO:0045053 | protein retention in Golgi apparatus |
| BP | IDA | GO:0045732 | positive regulation of protein catabolic process |
| BP | ISS | GO:0050768 | negative regulation of neurogenesis |
| BP | IDA | GO:0051604 | protein maturation |
| BP | IMP | GO:0070863 | positive regulation of protein exit from endoplasmic reticulum |
| BP | ISS | GO:1901215 | negative regulation of neuron death |
| BP | IDA | GO:1902430 | negative regulation of amyloid-beta formation |
| BP | IMP | GO:1902430 | negative regulation of amyloid-beta formation |
| BP | ISS | GO:1902771 | positive regulation of choline O-acetyltransferase activity |
| BP | ISS | GO:1902948 | negative regulation of tau-protein kinase activity |
| BP | IMP | GO:1902953 | positive regulation of ER to Golgi vesicle-mediated transport |
| BP | IMP | GO:1902955 | positive regulation of early endosome to recycling endosome transport |
| BP | IDA | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| BP | IMP | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process |
| BP | IMP | GO:1902963 | negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process |
| BP | IMP | GO:1902966 | positive regulation of protein localization to early endosome |
| BP | ISS | GO:1902997 | negative regulation of neurofibrillary tangle assembly |
| BP | IMP | GO:2001137 | positive regulation of endocytic recycling |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005641 | nuclear envelope lumen |
| CC | IDA | GO:0005768 | endosome |
| CC | IDA | GO:0005769 | early endosome |
| CC | IMP | GO:0005769 | early endosome |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005802 | trans-Golgi network |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0010008 | endosome membrane |
| CC | IDA | GO:0016020 | membrane |
| CC | IDA | GO:0031985 | Golgi cisterna |
| CC | IEA | GO:0034362 | low-density lipoprotein particle |
| CC | IMP | GO:0055037 | recycling endosome |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IDA | GO:0001540 | amyloid-beta binding |
| MF | IPI | GO:0001540 | amyloid-beta binding |
| MF | TAS | GO:0004888 | transmembrane signaling receptor activity |
| MF | TAS | GO:0005041 | low-density lipoprotein particle receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0030169 | low-density lipoprotein particle binding |
| MF | IPI | GO:0030306 | ADP-ribosylation factor binding |
Gene expression in normal tissue: SORL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SORL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-977225 | Amyloid fiber formation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD427 | ABT737 | 3 |
| iGMDRD116 | CD437 | 3 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD444 | Tivantinib | 1 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD399 | Selumetinib | 4 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD152 | 179324-69-7 | 5 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD314 | Tanespimycin | 3 |
| iGMDRD718 | Pyrvinium pamoate | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SORL1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.