Sortilin 1 information

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)
End	109,397,918 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	108,268,827 bp
RNA expression pattern
	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
	; ;
	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; neuronal cell body; 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
	6272
	20661
	ENSG00000134243
	ENSMUSG00000068747
	Q99523
	Q6PHU5
	NM_001205228; NM_002959
	NM_001271599; NM_019972
	NP_001192157; NP_002950
	NP_001258528; NP_064356
	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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134243 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068747 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: SORT1 sortilin 1".
^ "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-08-16.
^ Andersen JL, Schrøder TJ, Christensen S, Strandbygård D, Pallesen LT, García-Alai MM, et al. (February 2014). "Identification of the first small-molecule ligand of the neuronal receptor sortilin and structure determination of the receptor-ligand complex". Acta Crystallographica. Section D, Biological Crystallography. 70 (Pt 2): 451–460. doi:10.1107/S1399004713030149. PMC 3940197. PMID 24531479.
^ Nielsen MS, Madsen P, Christensen EI, Nykjaer A, Gliemann J, Kasper D, et al. (May 2001). "The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein". The EMBO Journal. 20 (9): 2180–2190. doi:10.1093/emboj/20.9.2180. PMC 125444. PMID 11331584.
^ Huang G, Buckler-Pena D, Nauta T, Singh M, Asmar A, Shi J, et al. (October 2013). "Insulin responsiveness of glucose transporter 4 in 3T3-L1 cells depends on the presence of sortilin". Molecular Biology of the Cell. 24 (19): 3115–3122. doi:10.1091/mbc.E12-10-0765. PMC 3784384. PMID 23966466.
^ Patel KM, Strong A, Tohyama J, Jin X, Morales CR, Billheimer J, et al. (February 2015). "Macrophage sortilin promotes LDL uptake, foam cell formation, and atherosclerosis". Circulation Research. 116 (5): 789–796. doi:10.1161/CIRCRESAHA.116.305811. PMC 4602371. PMID 25593281.
^ Kjolby M, Nielsen MS, Petersen CM (April 2015). "Sortilin, encoded by the cardiovascular risk gene SORT1, and its suggested functions in cardiovascular disease". Current Atherosclerosis Reports. 17 (4): 496. doi:10.1007/s11883-015-0496-7. PMID 25702058. S2CID 22361357.
^ Nykjaer A, Lee R, Teng KK, Jansen P, Madsen P, Nielsen MS, et al. (February 2004). "Sortilin is essential for proNGF-induced neuronal cell death". Nature. 427 (6977): 843–848. Bibcode:2004Natur.427..843N. doi:10.1038/nature02319. PMID 14985763. S2CID 4343450.
^ Varzideh F, Jankauskas SS, Kansakar U, Mone P, Gambardella J, Santulli G (February 2022). "Sortilin drives hypertension by modulating sphingolipid/ceramide homeostasis and by triggering oxidative stress". The Journal of Clinical Investigation. 132 (3). doi:10.1172/JCI156624. PMC 8803317. PMID 35104807.
^ Goettsch C, Hutcheson JD, Aikawa M, Iwata H, Pham T, Nykjaer A, et al. (April 2016). "Sortilin mediates vascular calcification via its recruitment into extracellular vesicles". The Journal of Clinical Investigation. 126 (4): 1323–1336. doi:10.1172/JCI80851. PMC 4811143. PMID 26950419.
^ Roselli S, Pundavela J, Demont Y, Faulkner S, Keene S, Attia J, et al. (April 2015). "Sortilin is associated with breast cancer aggressiveness and contributes to tumor cell adhesion and invasion". Oncotarget. 6 (12): 10473–10486. doi:10.18632/oncotarget.3401. PMC 4496368. PMID 25871389.
^ Wilson CM, Naves T, Al Akhrass H, Vincent F, Melloni B, Bonnaud F, et al. (2016-02-01). "A new role under sortilin's belt in cancer". Communicative & Integrative Biology. 9 (1): e1130192. doi:10.1080/19420889.2015.1130192. PMC 4802778. PMID 27066187.
^ Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield M, Devlin JJ, et al. (June 2015). "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials". Lancet. 385 (9984): 2264–2271. doi:10.1016/S0140-6736(14)61730-X. PMC 4608367. PMID 25748612.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134243 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000068747 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SORT1 sortilin 1".

[6] "BioGPS - your Gene Portal System". biogps.org. Retrieved 2016-08-16.

[ReferenceA-7] Andersen JL, Schrøder TJ, Christensen S, Strandbygård D, Pallesen LT, García-Alai MM, et al. (February 2014). "Identification of the first small-molecule ligand of the neuronal receptor sortilin and structure determination of the receptor-ligand complex". Acta Crystallographica. Section D, Biological Crystallography. 70 (Pt 2): 451–460. doi:10.1107/S1399004713030149. PMC 3940197. PMID 24531479.

[pmid11331584-8] Nielsen MS, Madsen P, Christensen EI, Nykjaer A, Gliemann J, Kasper D, et al. (May 2001). "The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein". The EMBO Journal. 20 (9): 2180–2190. doi:10.1093/emboj/20.9.2180. PMC 125444. PMID 11331584.

[pmid23966466-9] Huang G, Buckler-Pena D, Nauta T, Singh M, Asmar A, Shi J, et al. (October 2013). "Insulin responsiveness of glucose transporter 4 in 3T3-L1 cells depends on the presence of sortilin". Molecular Biology of the Cell. 24 (19): 3115–3122. doi:10.1091/mbc.E12-10-0765. PMC 3784384. PMID 23966466.

[pmid25593281-10] Patel KM, Strong A, Tohyama J, Jin X, Morales CR, Billheimer J, et al. (February 2015). "Macrophage sortilin promotes LDL uptake, foam cell formation, and atherosclerosis". Circulation Research. 116 (5): 789–796. doi:10.1161/CIRCRESAHA.116.305811. PMC 4602371. PMID 25593281.

[pmid25702058-11] Kjolby M, Nielsen MS, Petersen CM (April 2015). "Sortilin, encoded by the cardiovascular risk gene SORT1, and its suggested functions in cardiovascular disease". Current Atherosclerosis Reports. 17 (4): 496. doi:10.1007/s11883-015-0496-7. PMID 25702058. S2CID 22361357.

[pmid14985763-12] Nykjaer A, Lee R, Teng KK, Jansen P, Madsen P, Nielsen MS, et al. (February 2004). "Sortilin is essential for proNGF-induced neuronal cell death". Nature. 427 (6977): 843–848. Bibcode:2004Natur.427..843N. doi:10.1038/nature02319. PMID 14985763. S2CID 4343450.

[13] Varzideh F, Jankauskas SS, Kansakar U, Mone P, Gambardella J, Santulli G (February 2022). "Sortilin drives hypertension by modulating sphingolipid/ceramide homeostasis and by triggering oxidative stress". The Journal of Clinical Investigation. 132 (3). doi:10.1172/JCI156624. PMC 8803317. PMID 35104807.

[pmid26950419-14] Goettsch C, Hutcheson JD, Aikawa M, Iwata H, Pham T, Nykjaer A, et al. (April 2016). "Sortilin mediates vascular calcification via its recruitment into extracellular vesicles". The Journal of Clinical Investigation. 126 (4): 1323–1336. doi:10.1172/JCI80851. PMC 4811143. PMID 26950419.

[ReferenceB-15] Roselli S, Pundavela J, Demont Y, Faulkner S, Keene S, Attia J, et al. (April 2015). "Sortilin is associated with breast cancer aggressiveness and contributes to tumor cell adhesion and invasion". Oncotarget. 6 (12): 10473–10486. doi:10.18632/oncotarget.3401. PMC 4496368. PMID 25871389.

[pmid27066187-16] Wilson CM, Naves T, Al Akhrass H, Vincent F, Melloni B, Bonnaud F, et al. (2016-02-01). "A new role under sortilin's belt in cancer". Communicative & Integrative Biology. 9 (1): e1130192. doi:10.1080/19420889.2015.1130192. PMC 4802778. PMID 27066187.

[pmid25748612-17] Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield M, Devlin JJ, et al. (June 2015). "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials". Lancet. 385 (9984): 2264–2271. doi:10.1016/S0140-6736(14)61730-X. PMC 4608367. PMID 25748612.

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