Description: Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA. RefSeq Summary (NM_002337): This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Transcript (Including UTRs) Position: hg19 chr4:3,505,324-3,534,224 Size: 28,901 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr4:3,514,701-3,534,139 Size: 19,439 Coding Exon Count: 8
ID:AMRP_HUMAN DESCRIPTION: RecName: Full=Alpha-2-macroglobulin receptor-associated protein; Short=Alpha-2-MRAP; AltName: Full=Low density lipoprotein receptor-related protein-associated protein 1; Short=RAP; Flags: Precursor; FUNCTION: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330. SUBUNIT: Present on cell surface forming a complex with the alpha- 2-macroglobulin receptor heavy and light chains. Binds LRP1B; binding is followed by internalization and degradation. SUBCELLULAR LOCATION: Endoplasmic reticulum. Cytoplasm. Cell surface. Note=Intracellular and associated with cell surface receptors. Found in the endoplasmic reticulum. PTM: N-glycosylated. DISEASE: Note=In complex with the alpha-2-MR or gp330, it may have some role in the pathogenesis of membrane glomerular nephritis. SIMILARITY: Belongs to the alpha-2-MRAP family.
Alzheimer's Disease Sanchez L et al. 2001, Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease., American journal of medical genetics. 2001 Jan;105(1):76-8.
[PubMed 11425005]
According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.
Alzheimer's Disease Sanchez, L. et al. 2001, Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease., American journal of medical genetics. 2001 Jan;105(1):76-8.
[PubMed 11425005]
According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.
gallstones Dixit, M. et al. 2006, Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease, Hepatol Res 2006.
[PubMed 16837242]
LRPAP1, II genotype carrier females may have increased risk for gallstone 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.
ModBase Predicted Comparative 3D Structure on P30533
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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:0002091 negative regulation of receptor internalization GO:0010916 negative regulation of very-low-density lipoprotein particle clearance GO:0032091 negative regulation of protein binding GO:0045056 transcytosis GO:0048259 regulation of receptor-mediated endocytosis GO:0060548 negative regulation of cell death GO:1900116 extracellular negative regulation of signal transduction GO:1900222 negative regulation of beta-amyloid clearance GO:1900223 positive regulation of beta-amyloid clearance
US Server
