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	[1]	[2]

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

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.

Clinical significance

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

See also

• Apolipoprotein E

External links

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