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SORT1

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.
Protein class

Disease related genes, Potential drug targets, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enriched (Oligodendrocytes)

Immune cell specificity

Immune cell enhanced (non-classical monocyte, intermediate monocyte)

Cell line specificity

Low cell line specificity

Interaction

Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and GGA2 (PubMed:20015111, PubMed:16787399). Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A and NTS. Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF). Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and signaling. Interacts with CLN5 (PubMed:22431521). Interacts with PSAP (PubMed:22431521, PubMed:14657016). Interacts with GRN; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856). Interacts with the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35; which is involved in retrograde trafficking of the receptor from endosomes to the Golgi apparatus (PubMed:18817523). Interacts with SMPD1; the interaction is required for SMPD1 targeting to lysosomes (PubMed:16787399).

Molecular function

Developmental protein, Receptor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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