SORL1

Sortilin-related receptor, L(DLR class) A repeats containing
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DM4​, 3G2S​, 3G2T​, 3WSX​, 3WSY​, 3WSZ​
Identifiers
Symbols	SORL1 ; C11orf32; LR11; LRP9; SORLA; SorLA-1; gp250
External IDs	OMIM: 602005 HomoloGene: 2336 GeneCards: SORL1 Gene
Gene ontology Molecular function • beta-amyloid binding • beta-amyloid binding • transmembrane signaling receptor activity • protein binding • low-density lipoprotein particle binding • ADP-ribosylation factor binding Cellular component • extracellular space • nuclear envelope lumen • endosome • early endosome • early endosome • multivesicular body • endoplasmic reticulum • Golgi apparatus • trans-Golgi network • integral component of plasma membrane • membrane • Golgi cisterna • low-density lipoprotein particle • neuronal cell body • recycling endosome • extracellular vesicular exosome Biological process • protein targeting to Golgi • protein targeting • protein targeting • protein targeting to lysosome • lipid transport • post-Golgi vesicle-mediated transport • receptor-mediated endocytosis • signal transduction • cholesterol metabolic process • cell proliferation • regulation of smooth muscle cell migration • cell migration • negative regulation of protein binding • negative regulation of protein oligomerization • negative regulation of MAP kinase activity • protein retention in Golgi apparatus • positive regulation of protein catabolic process • negative regulation of neurogenesis • protein maturation • positive regulation of protein exit from endoplasmic reticulum • negative regulation of neuron death • negative regulation of beta-amyloid formation • negative regulation of beta-amyloid formation • positive regulation of choline O-acetyltransferase activity • negative regulation of tau-protein kinase activity • positive regulation of ER to Golgi vesicle-mediated transport • positive regulation of early endosome to recycling endosome transport • negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process • negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process • negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process • positive regulation of protein localization to early endosome • negative regulation of neurofibrillary tangle assembly • positive regulation of endocytic recycling Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6653	20660
Ensembl	ENSG00000137642	ENSMUSG00000049313
UniProt	Q92673	O88307
RefSeq (mRNA)	NM_003105	NM_011436
RefSeq (protein)	NP_003096	NP_035566
Location (UCSC)	Chr 11: 121.45 – 121.63 Mb	Chr 9: 41.96 – 42.12 Mb
PubMed search

Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.^[1]

SORL1 (also known as SORLA, SORLA1, or LR11) is a neuronal apolipoprotein E receptor, the gene for which is predominantly expressed in the central nervous system.^[2]

Clinical significance

Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease.^[3] Lack of the APOE receptor is suspected to be a contributory factor to Alzheimer's: a significant reduction in SORL1 (LR11) expression has been found in brain tissue of Alzheimer's disease patients.^[4] The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's.^[5] A more recent study by a group of international researchers ^[6] supports the proposition that SORL1 plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata.^[7]

See also

• Apolipoprotein E

References

1. "Entrez Gene: Sortilin-related receptor, L(DLR class) A repeats containing".
2. "SORL1 sortilin-related receptor, L(DLR class) A repeats-containing [ Homo sapiens ]". Entrez Gene. United States National Center for Biotechnology Information. 10 January 2007. Retrieved 2007-01-15.
3. Wade, Nicholas (15 January 2007). "Study Detects a Gene Linked to Alzheimer’s". The New York Times. Retrieved 2007-01-15.
4. Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ, Schaller C, Bujo H, Levey AI, Lah JJ (Aug 2004). "Loss of apolipoprotein E receptor LR11 in Alzheimer disease". Archives of Neurology 61 (8): 1200–5. doi:10.1001/archneur.61.8.1200. PMID 15313836.
5. Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A, Willnow TE (Sep 2005). "Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein". Proceedings of the National Academy of Sciences of the United States of America 102 (38): 13461–6. doi:10.1073/pnas.0503689102. PMC 1224625. PMID 16174740.
6. Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P (Feb 2007). "The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease". Nature Genetics 39 (2): 168–77. doi:10.1038/ng1943. PMC 2657343. PMID 17220890. Archived from the original (– ^{Scholar search}) on January 23, 2007. Advance online publication; Volume/Issue/Page available later
7. Hall J (15 January 2007). "Canadian-led team links gene to Alzheimer's". Toronto Star. Retrieved 2007-01-15.

External links

• SORL1 references from NCBI.
• "Study Detects a Gene Linked to Alzheimer’s". N. Wade, New York Times, Jan. 15, 2007.