VLDLR Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
VLDLR
Official Name
very low density lipoprotein receptor [Source:HGNC Symbol;Acc:HGNC:12698]
Ensembl ID
ENSG00000147852
Bio databases IDs NCBI: 7436 Ensembl: ENSG00000147852
Aliases very low density lipoprotein receptor
Synonyms CAMRQ1, CARMQ1, CHRMQ1, very low density lipoprotein receptor, VLDLRCH, VLDL receptor type I
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VLDLR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • calcium-dependent protein binding
  • extracellular domain
  • ligand binding repeat
  • cargo receptor activity
  • ectodomain
  • Low-density lipoprotein receptor repeat class B
  • very-low-density lipoprotein receptor
  • protein binding
  • EGF-like domain
  • protein tyrosine kinase activator
  • EGF_CA
  • binding protein
  • cytoplasmic domain
  • ligand-binding domain
  • LDLa
  • cytosolic tail domain
  • low-density lipoprotein receptor
  • Low-density lipoprotein-receptor YWTD domain
  • Coagulation Factor Xa inhibitory site
  • transmembrane receptor
  • transporter

Pathways

Biological processes and signaling networks where the VLDLR gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hypertension
  • chronic renal impairment
  • proteinuria
  • atherosclerosis
  • Alzheimer disease
  • COVID-19
  • cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1
  • hyperactive behavior
  • hyperlipidemia
  • pancreatic fibrosis
regulated by
  • docosahexaenoic acid
  • CYP1A1
  • Ca2+
  • eicosapentaenoic acid
  • PCSK9
  • MYLIP
  • insulin
  • 8-bromo-cAMP
  • beta-estradiol
  • fenofibrate
role in cell
  • proliferation
  • phosphorylation in
  • accumulation in
  • expression in
  • activation in
  • morphology
  • migration
  • accumulation
  • degeneration
  • outgrowth

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • glutaminergic synapse
  • cell surface
  • Extracellular Space
  • apical compartment
  • perinuclear region
  • cellular membrane
  • vesicles
  • postsynaptic membrane
  • lysosome membrane
  • synapse
  • GLUT4 vesicles
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human VLDLR gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • reelin-mediated signaling pathway
  • signal transduction
  • ventral spinal cord development
  • nervous system development
  • cholesterol metabolic process
  • memory
  • receptor-mediated endocytosis
  • positive regulation of dendrite development
  • dendrite morphogenesis
  • lipid transport
  • glycoprotein transport
  • very-low-density lipoprotein particle clearance

Cellular Component

Where in the cell the gene product is active
  • very-low-density lipoprotein particle
  • coated pit
  • membrane
  • receptor complex
  • lysosomal membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • apolipoprotein binding
  • reelin receptor activity
  • protein binding
  • very-low-density lipoprotein particle receptor activity
  • very-low-density lipoprotein particle binding
  • cargo receptor activity
  • calcium ion binding
  • low-density lipoprotein receptor activity
  • calcium-dependent protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.