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Gene Ontology Classifications
low density lipoprotein receptor

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ldlr. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Chen XW et al. (2013) SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion. Elife, 2:e00444. (PubMed:23580231)
  2. Chen Z et al. (2004) Hepatic secretion of apoB-100 is impaired in hypobetalipoproteinemic mice with an apoB-38.9-specifying allele. J Lipid Res, 45:155-63. (PubMed:13130124)
  3. Grosskopf I et al. (2005) Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants. Arterioscler Thromb Vasc Biol, 25:2573-9. (PubMed:16166565)
  4. Jones C et al. (2003) Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem, 278:29024-30. (PubMed:12746448)
  5. Kulinski A et al. (2002) Microsomal Triacylglycerol Transfer Protein Is Required for Lumenal Accretion of Triacylglycerol Not Associated with ApoB, as Well as for ApoB Lipidation. J Biol Chem, 277:31516-25. (PubMed:12072432)
  6. Lalanne F et al. (2005) Wild-type PCSK9 inhibits LDL clearance but does not affect apoB-containing lipoprotein production in mouse and cultured cells. J Lipid Res, 46:1312-9. (PubMed:15741654)
  7. Minahk C et al. (2008) Conversion of low density lipoprotein-associated phosphatidylcholine to triacylglycerol by primary hepatocytes. J Biol Chem, 283:6449-58. (PubMed:18175806)
  8. Rashid S et al. (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9. Proc Natl Acad Sci U S A, 102:5374-9. (PubMed:15805190)
  9. Seidah NG et al. (2012) Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation. PLoS One, 7:e41865. (PubMed:22848640)
  10. Stockinger W et al. (2002) The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor. EMBO J, 21:4259-67. (PubMed:12169628)
  11. van Ree JH et al. (1995) Increased response to cholesterol feeding in apolipoprotein C1-deficient mice. Biochem J, 305:905-11. (PubMed:7848292)
  12. Veniant MM et al. (1998) Lipoprotein clearance mechanisms in LDL receptor-deficient Apo-B48-only and Apo-B100-only mice. J Clin Invest, 102:1559-68. (PubMed:9788969)
  13. Veniant MM et al. (2000) Defining the atherogenicity of large and small lipoproteins containing apolipoprotein B100 J Clin Invest, 106:1501-10. (PubMed:11120757)
  14. Wang MD et al. (2007) Different cellular traffic of LDL-cholesterol and acetylated LDL-cholesterol leads to distinct reverse cholesterol transport pathways. J Lipid Res, 48:633-45. (PubMed:17148552)
  15. Zabalawi M et al. (2007) Inflammation and skin cholesterol in LDLr-/-, apoA-I-/- mice: link between cholesterol homeostasis and self-tolerance? J Lipid Res, 48:52-65. (PubMed:17071966)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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