SORT1

Gene Information

Official Symbol: SORT1
Official Name: sortilin 1
Aliases and Previous Symbols: N/A
Entrez ID: 6272
UniProt: Q99523
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt Summary: 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. {ECO:0000269|PubMed:10085125, ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366, ECO:0000269|PubMed:12209882, ECO:0000269|PubMed:12598608, ECO:0000269|PubMed:14657016, ECO:0000269|PubMed:14985763, ECO:0000269|PubMed:15313463, ECO:0000269|PubMed:15930396, ECO:0000269|PubMed:15987945}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 10474
Expression level (log2 read counts): 6.76

Expression Distribution

neurotensin receptor activity, non-G protein-coupled
nerve growth factor receptor activity
nerve growth factor binding
negative regulation of lipoprotein lipase activity
plasma membrane to endosome transport
glucose import
nerve growth factor signaling pathway
trans-Golgi network transport vesicle
negative regulation of lipase activity
Golgi to endosome transport
neurotrophin TRK receptor signaling pathway
regulation of lipoprotein lipase activity
endosome transport via multivesicular body sorting pathway
neurotrophin signaling pathway
glucose transmembrane transport
positive regulation of epithelial cell apoptotic process
extrinsic apoptotic signaling pathway via death domain receptors
multivesicular body sorting pathway
hexose transmembrane transport
monosaccharide transmembrane transport
carbohydrate transmembrane transport
negative regulation of fat cell differentiation
cellular response to nerve growth factor stimulus
response to nerve growth factor
endosome to lysosome transport
clathrin-coated pit
clathrin-coated vesicle
myotube differentiation
carbohydrate transport
regulation of epithelial cell apoptotic process
Golgi cisterna membrane
extrinsic apoptotic signaling pathway
regulation of lipase activity
post-Golgi vesicle-mediated transport
lysosomal transport
neuropeptide signaling pathway
regulation of fat cell differentiation
vacuolar transport
cytoplasmic vesicle membrane
cytosolic transport