Description: Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA. RefSeq Summary (NM_003383): The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]. Transcript (Including UTRs) Position: hg19 chr9:2,621,793-2,654,485 Size: 32,693 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr9:2,622,190-2,653,868 Size: 31,679 Coding Exon Count: 19
ID:VLDLR_HUMAN DESCRIPTION: RecName: Full=Very low-density lipoprotein receptor; Short=VLDL receptor; Short=VLDL-R; Flags: Precursor; FUNCTION: Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity). SUBUNIT: Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By similarity). Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1 through the second and third LDL-receptor class A domains. Interacts with PCSK9. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. TISSUE SPECIFICITY: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver. PTM: Ubiquitinated at Lys-839 by MYLIP leading to degradation. DISEASE: Defects in VLDLR are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 1 (CMARQ1) [MIM:224050]; also known as dysequilibrium syndrome (DES) or non- progressive cerebellar disorder with mental retardation. CMARQ1 is a congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation and cerebellar hypoplasia. Additional features include short stature, strabismus, pes planus and, rarely, seizures. SIMILARITY: Contains 3 EGF-like domains. SIMILARITY: Contains 8 LDL-receptor class A domains. SIMILARITY: Contains 6 LDL-receptor class B repeats. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/vldlr/";
Alzheimer's Disease McIlroy SP et al. 1999, Risk of Alzheimer's disease is associated with a very low-density lipoprotein receptor genotype in Northern Ireland., American journal of medical genetics. 1999 Apr;88(2):140-4.
[PubMed 10206233]
Alzheimer's Disease Okuizumi K et al. 1995, Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease., Nature genetics. 1995 Oct;11(2):207-9.
[PubMed 7550352]
Our results suggest that the VLDLR gene is a susceptibility gene for AD.
dementia Helbecque, N. et al. 2001, VLDL receptor polymorphism, cognitive impairment, and dementia., Neurology. 2001 May;56(9):1183-8.
[PubMed 11342683]
The VLDLR-5-repeat allele may constitute a genetic susceptibility factor for dementia, particularly in the presence of vascular risk factors. This observation suggests the influence of vascular risk factors in the occurrence of dementia.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00057 - Low-density lipoprotein receptor domain class A PF00058 - Low-density lipoprotein receptor repeat class B PF07645 - Calcium-binding EGF domain PF14670 - Coagulation Factor Xa inhibitory site
ModBase Predicted Comparative 3D Structure on P98155
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006629 lipid metabolic process GO:0006869 lipid transport GO:0006897 endocytosis GO:0006898 receptor-mediated endocytosis GO:0007165 signal transduction GO:0007399 nervous system development GO:0007411 axon guidance GO:0007613 memory GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0021517 ventral spinal cord development GO:0032802 low-density lipoprotein particle receptor catabolic process GO:0034436 glycoprotein transport GO:0034447 very-low-density lipoprotein particle clearance GO:0038026 reelin-mediated signaling pathway GO:0045860 positive regulation of protein kinase activity GO:0048813 dendrite morphogenesis GO:1900006 positive regulation of dendrite development
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
