Description: Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 2, mRNA. RefSeq Summary (NM_001172632): This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. Transcript (Including UTRs) Position: hg19 chr12:10,310,899-10,320,198 Size: 9,300 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr12:10,312,615-10,319,422 Size: 6,808 Coding Exon Count: 3
Alzheimer's Disease Luedecking-Zimmer, E. et al. 2002, Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12, Human genetics. 2002 Oct;111(5-Apr):443-51.
[PubMed 12384789]
Our data suggest that genetic variation in the OLR1 gene may modify the risk of AD in an APOE*4-dependent fashion.
Alzheimer's Disease Lambert, J. C. et al. 2003, Association of 3'-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease., Journal of medical genetics. 2003 Jun;40(6):424-30.
[PubMed 12807963]
The OLR1 expression was significantly lower in AD cases bearing the CC and CT genotypes compared with controls with the same genotypes. In conclusion, our data suggest that genetic variation in the OLR1 gene may modify the risk of AD.
Alzheimer's Disease D'Introno, A. et al. 2005, Polymorphisms in the oxidized low-density lipoprotein receptor-1 gene and risk of Alzheimer's disease., The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Mar;60(3):280-4.
[PubMed 15860461]
In our population, the +1073 C/T OLR1 polymorphism exhibited a significant association with Alzheimer's disease, further supporting the role of OLR1 as a candidate risk gene for sporadic Alzheimer's disease.
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on B7ZAN8
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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.