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Symbol SORL1 contributors: shn/npt/pgu - updated : 07-07-2020
HGNC name sortilin-related receptor, L(DLR class) A repeats-containing
HGNC id 11185
Location 11q24.1      Physical location : 121.322.960 - 121.504.471
Synonym name
  • mosaic protein LR11
  • sortilin-related receptor aka LR11
  • chromosome 11 open reading frame 32
  • LDLR relative with 11 ligand-binding repeats
  • Synonym symbol(s) SORLA, LR11, LRP9, GP250, C11orf32, SorLA-1, FLJ21930, FLJ39258
    TYPE functioning gene
    STRUCTURE 181.51 kb     48 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S4089 - D11S4107 - SORL1 - D11S4167 - D11S4157 - qter
    TRANSCRIPTS type untranslated
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    48 - 10924 250 2214 Frontal - cortex Pyramidal neurons and glia Hippocampus - Granule cells in the dentate gyrus and pyramidal neurons in CA1�CA3 Cerebellum - Purkinje cells 2009 19002190
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   moderately
     spleen   moderately
    Nervousbrain   predominantly Homo sapiens
     spinal cord   highly
    Reproductivefemale systemovary  highly
     male systemtestis  highly
     male systemprostate  highly
    UrinarykidneytubuleHenles loopHL ascending limbhighly Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • a secretory signal sequence
  • a furin cleavage site
  • a short cytoplasmic tail containing a tyrosine-based internalization signal and a large external part containing a VPS10 domain, which comprises a consensus sequence for cleavage by furin ((50)RRKR(53))
  • a LDLR-like domain with homology to the class A and class B repeats
  • the EGF-type repeat domain of LDLR followed by six fibronectin type III modules
  • a cluster of 11 class A repeats characteristic of the low density lipoprotein receptor gene family receptors
  • five tandemly arranged YWTD repeats
  • five LDL-receptor class b repeats
  • a unique transmembrane segment and a short cytoplasmic tail
  • six tandemly arranged fibronectin type III repeats
    interspecies homolog to yeast vacuolar protein sorting protein
    ortholog to Sorl1, Mus musculus
    ortholog to Sorl1, Rattus norvegicus
  • vacuolar protein sorting 10 (VPS10) domain-containing receptor protein and low density lipoprotein receptor family
  • CATEGORY receptor membrane
        plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • multifonctional endocytic receptor implicated in the uptake of lipoproteins and proteases
  • may be involved in intracellular trafficking of amyloid precursor protein
  • plays important roles in sporadic Alzheimer disease
  • could play a role in cell-cell interaction
  • acting as a sorting receptor that protects APP from processing into Abeta and thereby reduces the burden of amyloidogenic peptide formation
  • regulator of smooth muscle cell migration
  • having a key physiological role in the differential sorting of APP holoprotein
  • regulator of neuronal viability and function through the regulation of both protein transport and signal transduction
  • binds apolipoproteins and potentially modulates lipoprotein metabolism, which might also affect neuronal function. Involved in APP trafficking and metabolism. Acts as sorting receptor for APP that promotes APP
  • transport into intracellular pathways
  • important role in functional activation of renal ion transporters
  • intracellular trafficking of STK39 by SORL1 is crucial for proper SLC12A1 activation and for maintenance of renal ion balance
  • acts as an endosomal chaperone to increase APP traffic in a non-amyloidogenic pathway
  • multifunctional low-density lipoprotein receptor that influences Alzheimer disease susceptibility
  • SORL1, SORCS1, SORCS2, and SORCS3) play pleiotropic functions in protein trafficking and intracellular and intercellular signaling in neuronal and non-neuronal cells
  • sortilin, SORL1, SORCS1, SORCS2, and SORCS3) modulate neurotrophic signaling pathways
  • is a neuronal sorting receptor that is genetically associated with Alzheimer disease
  • likely novel function for SORL1 which is in control of synapsin degradation, potentially impacting on synaptic vesicle endocytosis and/or exocytosis
  • is an intracellular sorting receptor that directs cargo proteins, such as kinases, phosphatases, and signaling receptors, to their correct location within the cell
  • potentially important SORL1-dependent endosomal trafficking-linked vulnerabilities in HER2-driven cancers
  • exerts intraneuronal trafficking functions in the central nervous system 8)
  • potential novel role of SORL1 in synaptogenesis 8)
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text cholesterol metabolic process
    signaling neurotransmission
    a component
  • SORL1 and ROCK2 form a stable complex in human cells and tissues
    small molecule
  • low density lipoprotein receptor-related protein associated protein 1 (LRPAP1)
  • LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis
  • golgi associated, gamma adaptin ear containing, ARF binding protein 1 and 2 (GGA1, GGA2)
  • ubiquitous AP-2 complex
  • carbohydrate domain of amyloid beta (A4) precursor protein (APP)
  • interacts directly with APP and co-localization between these proteins has been shown in endosomal and Golgi compartments in a variety of cell types, including primary neurons
  • functionally interacts with STK39, an activator of SOLC12A1, and receptor deficiency is associated with missorting of STK39
  • interacting with ROCK2 that may phosphorylate SORL1, and increases SORL1 ectodomain shedding
  • key role for SORL1 in mediating BDNF trophic signaling by regulating the intracellular location of NTRK2
  • SORL1-dependent and -independent functions for PACS1 in control of amyloidogenic processes
  • interacts directly with the amyloid precursor protein (APP) and affects the processing of the precursor, leading to a decreased generation of the amyloid-beta peptide
  • SORL1 acts as a sorting factor for the insulin receptor (INSR) that redirects internalized receptor molecules from endosomes to the plasma membrane, thereby enhancing INSR surface expression
  • novel role for SORL1 as a physiological and pathological EPHA4 modulator, which attenuates synaptotoxic EPHA4 activation and cognitive impairment associated with APP-induced neurodegeneration in Alzheimer disease
  • has recently been shown to be implicated in immune response by regulating IL6-mediated signaling, as well as driving monocyte migration
  • cell & other
    Other stimulated by omega-3 fatty acid docosahexaenoic
    acid (DHA) in cultured neurons
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the atheromatous plaque
    constitutional     --low  
    in neurons of Alzheimer patients
    Susceptibility to late-onset Alzheimer disease
    Variant & Polymorphism other variants increasing the risk of late-onset Alzheimer disease
    Candidate gene
    Therapy target