SORT1 Antibody – Mouse Monoclonal

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]

SORT1: Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi. A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction. Belongs to the VPS10-related sortilin family. SORT1 subfamily.

Protein type: Membrane protein, integral; Receptor, misc.

Chromosomal Location of Human Ortholog: 1p13.3|1p21.3-p13.1

Cellular Component: Golgi apparatus; endoplasmic reticulum membrane; nuclear membrane; cell surface; clathrin-coated vesicle; lysosomal membrane; early endosome; cytoplasmic membrane-bound vesicle; integral to membrane; coated pit; trans-Golgi network transport vesicle; perinuclear region of cytoplasm; plasma membrane; endosome membrane

Molecular Function: protein binding; nerve growth factor receptor activity; enzyme binding; nerve growth factor binding; neurotensin receptor activity, non-G-protein coupled

Biological Process: ossification; nerve growth factor receptor signaling pathway; vesicle organization and biogenesis; multicellular organismal development; endosome transport via multivesicular body sorting pathway; myotube differentiation; Golgi to endosome transport; endocytosis; response to insulin stimulus; G-protein coupled receptor protein signaling pathway; induction of apoptosis via death domain receptors; neuropeptide signaling pathway; regulation of gene expression; glucose import; endosome to lysosome transport; plasma membrane to endosome transport; negative regulation of lipoprotein lipase activity

Disease: Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6