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FLASH GENE
Symbol SORL1 contributors: shn/npt/pgu - updated : 05-12-2009
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
  • Synonym symbol(s) SORLA, LR11, LRP9, GP250, C11orf32, SorLA-1
    DNA
    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
    Physical map
    USP2 11q23.3 ubiquitin specific protease 2 LOC94105 11q22.3-q23 Thy-1 co-transcribed THY1 11q23.3 Thy-1 cell surface antigen LOC387813 11 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 PVRL1 11q23-q24 poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin) LOC390255 11 similar to HLA-B-associated transcript 1A; nuclear RNA helicase Bat1 LOC387814 11 LOC387814 TRIM29 11q22-q23 tripartite motif-containing 29 LOC219908 11q23.3 hypothetical LOC219908 NS5ATP13TP2 11q23.3 NS5ATP13TP2 protein POU2F3 11q23.3 POU domain, class 2, transcription factor 3 MGC17839 11q23.3 hypothetical protein MGC17839 ARHGEF12 11q23.3 Rho guanine nucleotide exchange factor (GEF) 12 GRIK4 11q23 glutamate receptor, ionotropic, kainate 4 MGC10233 11q23.3 hypothetical protein MGC10233 TECTA 11q22-q24 tectorin alpha SC5DL 11q24.2-q24.3 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like LOC283155 11q23.3 similar to bone morphogenetic protein receptor, type IA precursor; activin A receptor, type II-like kinase 3 LOC390256 11 similar to programmed cell death-2/Rp8 homolog SORL1 11q23.2-q24.4 sortilin-related receptor, L(DLR class) A repeats-containing LOC255849 11q24.1 hypothetical LOC255849 LOC390257 11 similar to Glutamine synthetase (Glutamate--ammonia ligase) LOC390258 11 similar to scaffold attachment factor B; heat-shock protein (HSP27) estrogen response element and TATA box-binding protein; HSP27 ERE-TATA-binding protein; glutathione S-transferase fusion protein; scaffold attachment factor B1 KIAA1959 11q24.1 nm23-phosphorylated unknown substrate CRTAM 11q22-q23 class-I MHC-restricted T cell associated molecule FLJ23554 11q24.1 hypothetical protein FLJ23554 LOC390259 11 similar to brain-specific homeodomain protein LOC341056 11q24.1 similar to SUMO-1 activating enzyme subunit 1; SUMO-1 activating enzyme E1 N subunit; sentrin/SUMO-activating protein AOS1; ubiquitin-like protein SUMO-1 activating enzyme HSPA8 11q23.3-q25 heat shock 70kDa protein 8 LOC85391 11q23.3-q25 RNA, small nucleolar ASAM 11q24.1 adipocyte-specific adhesion molecule LOC283157 11q24.1 similar to RIKEN cDNA A930008A22
    RNA
    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
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    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
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Urinaryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
  • HOMOLOGY
    interspecies homolog to yeast vacuolar protein sorting protein
    ortholog to Sorl1, Mus musculus
    ortholog to Sorl1, Rattus norvegicus
    Homologene
    FAMILY
  • vacuolar protein sorting 10 (VPS10) domain-containing receptor protein and low density lipoprotein receptor family
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text cholesterol metabolic process
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • SORL1 and ROCK2 form a stable complex in human cells and tissues
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
  • cell & other
    REGULATION
    Other stimulated by omega-3 fatty acid docosahexaenoic
    acid (DHA) in cultured neurons
    ASSOCIATED DISORDERS
    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
    Marker
    Therapy target
    ANIMAL & CELL MODELS