Mus musculus Gene: Ldlr
Summary
InnateDB Gene IDBG-141358.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ldlr
Gene Name low density lipoprotein receptor
Synonyms Hlb301
Species Mus musculus
Ensembl Gene ENSMUSG00000032193
Encoded Proteins
low density lipoprotein receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000130164:
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:21723576-21749916
Strand Forward strand
Band A3
Transcripts
ENSMUST00000034713 ENSMUSP00000034713
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 20 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001948 glycoprotein binding
GO:0005041 low-density lipoprotein receptor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0030169 low-density lipoprotein particle binding
GO:0030229 very-low-density lipoprotein particle receptor activity
Biological Process
GO:0006629 lipid metabolic process
GO:0006898 receptor-mediated endocytosis
GO:0008203 cholesterol metabolic process
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0010899 regulation of phosphatidylcholine catabolic process
GO:0015914 phospholipid transport
GO:0030299 intestinal cholesterol absorption
GO:0030301 cholesterol transport
GO:0034383 low-density lipoprotein particle clearance
GO:0042157 lipoprotein metabolic process
GO:0042159 lipoprotein catabolic process
GO:0042632 cholesterol homeostasis
GO:0070508 cholesterol import
GO:2000188 regulation of cholesterol homeostasis
Cellular Component
GO:0005764 lysosome
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005905 coated pit
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034362 low-density lipoprotein particle
GO:0043235 receptor complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Disease pathway
Retinoid metabolism and transport pathway
LDL-mediated lipid transport pathway
Metabolism pathway
Metabolism of lipids and lipoproteins pathway
Lipid digestion, mobilization, and transport pathway
Chylomicron-mediated lipid transport pathway
Lipoprotein metabolism pathway
Visual phototransduction pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
KEGG
Endocytosis pathway
Bile secretion pathway
Toxoplasmosis pathway
Hepatitis C pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
EGFR1 pathway
REACTOME
Retinoid metabolism and transport pathway
Chylomicron-mediated lipid transport pathway
LDL-mediated lipid transport pathway
Metabolism of lipids and lipoproteins pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Lipoprotein metabolism pathway
Metabolism pathway
Lipid digestion, mobilization, and transport pathway
Disease pathway
KEGG
Endocytosis pathway
Bile secretion pathway
Toxoplasmosis pathway
Hepatitis C pathway
INOH
PID NCI
Cross-References
SwissProt P35951
TrEMBL
UniProt Splice Variant
Entrez Gene 16835
UniGene Mm.3213 Mm.392278 Mm.469604
RefSeq NM_001252658 NM_001252659 NM_010700 XM_006510042
OMIM
CCDS CCDS22910
HPRD
IMGT
MGI ID MGI:96765
MGI Symbol Ldlr
EMBL AC161371 BC053041 CH466522 X64414 Z19521
GenPept AAH53041 CAA45759 CAA79581 EDL25212
RNA Seq Atlas 16835