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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602005 Ensembl IDEnsembl:ENSG00000137642 HGNC IDHGNC:HGNC:11185 PHARMGKB IDPA36022 Map Location11q24.1 | |||||
GO terms in SORL1
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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 |
Gene expression in normal tissue: SORL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SORL1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-977225 | Amyloid fiber formation |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SORL1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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