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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sortilin 1 | MIM:602458 | Ensembl:ENSG00000134243 | HGNC:HGNC:11186 | PA36023 | 1p13.3|1p21.3-p13.1 |
Gene Categories:
CELL SURFACEGO terms in SORT1
| 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 |
| CC | IDA | GO:0005769 | early endosome |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | NAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005905 | clathrin-coated pit |
| CC | IDA | GO:0009986 | cell surface |
| CC | IEA | GO:0010008 | endosome membrane |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0030136 | clathrin-coated vesicle |
| CC | IEA | GO:0030140 | trans-Golgi network transport vesicle |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0030659 | cytoplasmic vesicle membrane |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
| CC | IEA | GO:0031965 | nuclear membrane |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IEA | GO:0001503 | ossification |
| BP | IDA | GO:0006895 | Golgi to endosome transport |
| BP | IDA | GO:0006897 | endocytosis |
| BP | IMP | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0007218 | neuropeptide signaling pathway |
| BP | IEA | GO:0007275 | multicellular organism development |
| BP | IDA | GO:0008333 | endosome to lysosome transport |
| BP | IDA | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors |
| BP | IMP | GO:0010468 | regulation of gene expression |
| BP | IMP | GO:0014902 | myotube differentiation |
| BP | IDA | GO:0016050 | vesicle organization |
| BP | IDA | GO:0032509 | endosome transport via multivesicular body sorting pathway |
| BP | IMP | GO:0032868 | response to insulin |
| BP | IEA | GO:0038180 | nerve growth factor signaling pathway |
| BP | IEA | GO:0045599 | negative regulation of fat cell differentiation |
| BP | IMP | GO:0046323 | glucose import |
| BP | IMP | GO:0048011 | neurotrophin TRK receptor signaling pathway |
| BP | IDA | GO:0048227 | plasma membrane to endosome transport |
| BP | IDA | GO:0051005 | negative regulation of lipoprotein lipase activity |
| BP | IEA | GO:1904037 | positive regulation of epithelial cell apoptotic process |
Gene expression in normal tissue: SORT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SORT1
| 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 |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| reactome | R-HSA-421837 | Clathrin derived vesicle budding |
| reactome | R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SORT1
CLASSFICATION
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