SORT1
Summary: This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namesortilin 1 OMIM IDMIM:602458 Ensembl IDEnsembl:ENSG00000134243 HGNC IDHGNC:HGNC:11186 PHARMGKB IDPA36023 Map Location1p13.3|1p21.3-p13.1 | |||||
Gene Categories:
CELL SURFACEGO terms in SORT1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0010465 | nerve growth factor receptor activity |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IDA | GO:0030379 | neurotensin receptor activity, non-G-protein coupled |
| MF | IPI | GO:0048406 | nerve growth factor binding |
| CC | IEA | GO:0005765 | lysosomal membrane |
Gene expression in normal tissue: SORT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SORT1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_BDNF | BDNF |
| pid | p75ntrpathway | p75(NTR)-mediated signaling |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| kegg | hsa04722 | Neurotrophin signaling pathway - Homo sapiens (human) |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SORT1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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