Sortilin 1

SORT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3F6K, 3G2U, 3G2V, 4MSL, 4N7E, 4PO7
Identifiers
Aliases	SORT1, Gp95, LDLCQ6, NT3, NTR3, Sortilin 1
External IDs	OMIM: 602458; MGI: 1338015; HomoloGene: 136097; GeneCards: SORT1; OMA:SORT1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.3|1p21.3-p13.1 Start 109,309,568 bp[1] End 109,397,918 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F3 Start 108,191,398 bp[2] End 108,268,827 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve corpus epididymis subthalamic nucleus postcentral gyrus globus pallidus external globus pallidus internal globus pallidus pars reticulata corpus callosum superior vestibular nucleus Top expressed in dentate gyrus of hippocampal formation granule cell superior frontal gyrus primary visual cortex ascending aorta granulocyte muscle of thigh lumbar subsegment of spinal cord aortic valve spermatid neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nerve growth factor receptor activity neurotensin receptor activity, non-G protein-coupled nerve growth factor binding protein binding enzyme binding Cellular component integral component of membrane endosome Golgi apparatus nuclear membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle plasma membrane Golgi cisterna membrane cell surface lysosomal membrane soma dendrite early endosome endoplasmic reticulum perinuclear region of cytoplasm clathrin-coated pit trans-Golgi network transport vesicle lysosome endosome membrane clathrin-coated vesicle nucleus cytosol cytoplasmic vesicle membrane cytoplasmic vesicle Biological process G protein-coupled receptor signaling pathway cell differentiation myotube differentiation negative regulation of fat cell differentiation endocytosis neurotrophin TRK receptor signaling pathway ossification endosome transport via multivesicular body sorting pathway vesicle organization endosome to lysosome transport Golgi to endosome transport positive regulation of epithelial cell apoptotic process multicellular organism development response to insulin plasma membrane to endosome transport regulation of gene expression negative regulation of lipoprotein lipase activity glucose import neuropeptide signaling pathway extrinsic apoptotic signaling pathway via death domain receptors nerve growth factor signaling pathway post-Golgi vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6272 20661 Ensembl ENSG00000134243 ENSMUSG00000068747 UniProt Q99523 Q6PHU5 RefSeq (mRNA) NM_001205228 NM_002959 NM_001271599 NM_019972 RefSeq (protein) NP_001192157 NP_002950 NP_001258528 NP_064356 Location (UCSC) Chr 1: 109.31 – 109.4 Mb Chr 3: 108.19 – 108.27 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sortilin (SORT1) is a protein that in humans is encoded by the SORT1 gene on chromosome 1.^[5] This protein is a type I membrane glycoprotein in the vacuolar protein sorting 10 protein (Vps10p) family of sorting receptors. While it is ubiquitously expressed in many tissues,^[6] sortilin is most abundant in the central nervous system.^[7] At the cellular level, sortilin functions in protein transport between the Golgi apparatus, endosome, lysosome, and plasma membrane, leading to its involvement in multiple biological processes such as glucose and lipid metabolism as well as neural development and cell death.^{[8][9][10][11][12]} Moreover, the function and role of sortilin is now emerging in several major human diseases such as hypertension, atherosclerosis, coronary artery disease, Alzheimer’s disease, and cancer.^{[13][14][15][16]} The SORT1 gene also contains one of 27 loci associated with increased risk of coronary artery disease.^[17]