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/";
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 
