SORL1

Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.[5]

SORL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DM4, 3G2S, 3G2T, 3WSX, 3WSY, 3WSZ
Identifiers
Aliases	SORL1, sortilin-related receptor, L(DLR class) A repeats containing, C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250, sortilin related receptor 1
External IDs	OMIM: 602005 MGI: 1202296 HomoloGene: 2336 GeneCards: SORL1
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.1 Start 121,452,314 bp[1] End 121,633,763 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A5.1 Start 41,964,720 bp[2] End 42,124,297 bp[2]
Gene ontology Molecular function • amyloid-beta binding • low-density lipoprotein particle binding • GO:0001948 protein binding • ADP-ribosylation factor binding • transmembrane signaling receptor activity Cellular component • integral component of membrane • recycling endosome • endosome • Golgi apparatus • membrane • Golgi cisterna • integral component of plasma membrane • extracellular region • trans-Golgi network • early endosome • endoplasmic reticulum • low-density lipoprotein particle • nuclear envelope lumen • extracellular exosome • Golgi membrane • extracellular • endosome membrane Biological process • negative regulation of tau-protein kinase activity • protein targeting • steroid metabolic process • positive regulation of choline O-acetyltransferase activity • lipid transport • protein targeting to lysosome • negative regulation of neurofibrillary tangle assembly • endocytosis • positive regulation of protein catabolic process • lipid metabolism • negative regulation of amyloid-beta formation • negative regulation of protein oligomerization • negative regulation of neurogenesis • protein maturation • negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process • cholesterol metabolic process • negative regulation of protein binding • positive regulation of ER to Golgi vesicle-mediated transport • receptor-mediated endocytosis • positive regulation of early endosome to recycling endosome transport • post-Golgi vesicle-mediated transport • negative regulation of MAP kinase activity • positive regulation of endocytic recycling • regulation of smooth muscle cell migration • positive regulation of protein localization to early endosome • transport • negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process • positive regulation of protein exit from endoplasmic reticulum • protein retention in Golgi apparatus • negative regulation of neuron death • signal transduction • cellular protein metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6653	20660
Ensembl	ENSG00000137642	ENSMUSG00000049313
UniProt	Q92673	O88307
RefSeq (mRNA)	NM_003105	NM_011436 NM_001357261
RefSeq (protein)	NP_003096	NP_035566 NP_001344190
Location (UCSC)	Chr 11: 121.45 – 121.63 Mb	Chr 9: 41.96 – 42.12 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

Clinical significance

Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease.[7] 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.[8] The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's.[9] A more recent study by a group of international researchers [10] supports the proposition that SORL1 plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata.[11]

See also

• Apolipoprotein E

References

1. GRCh38: Ensembl release 89: ENSG00000137642 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049313 - 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.
5. "Entrez Gene: Sortilin-related receptor, L(DLR class) A repeats containing".
6. "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.
7. Wade, Nicholas (15 January 2007). "Study Detects a Gene Linked to Alzheimer's". The New York Times. Retrieved 2007-01-15.
8. 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.
9. 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.
10. 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. Advance online publication; Volume/Issue/Page available later
11. 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.