Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol VLDLR contributors: mct - updated : 28-02-2015
HGNC name very low density lipoprotein receptor
HGNC id 12698
Corresponding disease
CHQL1 cerebellar hypoplasia and quadrupedal locomotion 1
Location 9p24.3      Physical location : 2.621.792 - 2.654.485
Synonym name very low density lipoprotein/ApoE receptor
Synonym symbol(s) LDVR, FLJ35024, VLDLRCH
DNA
TYPE functioning gene
STRUCTURE 32.71 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure a CGG repeat in 5'utr
MAPPING cloned Y linked   status confirmed
Map pter - D9S989E ,D9S1779 - D9S1858 - D9S957 - D9S129 - (RFX3 ,D9S2011 ,D9S1212 ) - VLDLR - D9S54 - D9S1136 - D9S230 - (D9S178 ,D9S1813 ) - D9S288 - D9S132 - D9S199 - (AK3 ,D9S1686 ) - D9S1810 - D9S1027E - cen
Authors Bouzyk (97)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 3646 - 873 - Crawford (2008)
18 - 3562 - 845 - Crawford (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineneuroendocrinepituitary  highly
Nervousbrainforebraincerebral cortex   Homo sapiens
Reproductivemale systemtestis  highly
Respiratoryrespiratory tracttrachea  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cysteine-rich repeats, three EGF-like homology domain
  • an O-linked sugar domain
  • a transmembrane segment (1TM)
  • a cytoplasmic short tail with a NPY internalization domain
  • 8 LDL receptor class A and 6 class B
  • HOMOLOGY
    interspecies homolog to murine Vldlr
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text membrane protein type 1
    basic FUNCTION
  • required for proper development of the cerebral cortex and cerebellum
  • involved in neuroblast migration in the cerebral cortex and cerebellum
  • on the cell surface probably mediates an antiangiogenic signal to prevent retinal endothelial cells from migrating into the photoreceptor cell layer
  • ER stress-dependent expression of hepatic VLDLR leads potentially to hepatic steatosis by increasing lipoprotein delivery to the liver, which might be a novel mechanism explaining ER stress-induced hepatic steatosis
  • contributes to adipose tissue inflammation and mediates VLDL-induced lipid accumulation and induction of inflammation and ER stress in adipocytes and macrophages
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • RELN/VLDLR signaling pathway might contribute to the formation of olfactory projections to the olfactory bulb (OB) and the establishment of initial contacts between the incoming axons and neurons in the OB
  • a component component of the reelin signaling pathway
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LDLRAP1
  • receptor of RELN
  • PAFAH1B complex interacts with the reelin receptor VLDLR
  • VLDLR expression is regulated by PPARG and contributes in lipid uptake and adipogenesis
  • acting as an E3 ubiquitin ligase, MYLIP triggers ubiquitination and subsequent degradation of the low density lipoprotein receptor (LDLR)
  • APBB1 can regulate VLDLR trafficking and processing, and can serve as a link between VLDLR and APP
  • STX5 might play a role in modulating VLDLR physiology by participating in an abrasively described or completely novel Golgi-bypass pathway
  • HIC1 is a direct transcriptional repressor of LRP8 and VLDLR
  • CLU binds to apolipoprotein E receptor 2 (LRP8) and very low density lipoprotein receptor (VLDLR) and is internalized by cells expressing either one of these receptors
  • RELN governs cell migration through activation of multiple intracellular signaling events by means of the receptors LRP8 and VLDLR, and the intracellular adaptor protein Disabled-1 (DAB1)
  • cell & other
    REGULATION
    Other regulation of VLDLR by BDNF and Reelin may affect the migration of neurons and contribute to neurodevelopmental disorders in the nervous system.
    ASSOCIATED DISORDERS
    corresponding disease(s) CHQL1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion --low  
    deletion or low expression in gastric cancer
    constitutional       loss of function
    leads to retinal degeneration and inflammation
    Susceptibility
  • may be late onset senile Alzheimer disease
  • to osteoporosis
  • to Carotid artery disease (Crawford 2008)
  • Variant & Polymorphism repeat CGG repeats >8 increasing the BMD in men
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascular  
    MYLIP inhibitors aimed at increasing LDLR abundance in therapeutic strategies to treat cardiovascular disease
    ANIMAL & CELL MODELS
  • VLDLR knockout mice show overgrown intraretinal vasculature and subretinal neovascularization
  • Vldlr-deficient mice exhibited decreased hepatic steatosis upon high-fat diet feeding
  • homozygous r26/r26 mice displayed depigmented patches in the retina fundus that overlapped the hyperfluorescent spots in the angiogram