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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Candidate cardiovascular disease genes CD markers Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q13.3
Chromosome location (bp)
57128483 - 57213361
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells 1,2. Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. Acts as an LRPAP1 alpha-2-macroglobulin receptor 3,4. Acts as TAU/MAPT receptor and controls the endocytosis of TAU/MAPT as well as its subsequent spread 5. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission 6....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Endocytosis, Host-virus interaction
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q07954 [Direct mapping] Prolow-density lipoprotein receptor-related protein 1 Low-density lipoprotein receptor-related protein 1 85 kDa subunit Low-density lipoprotein receptor-related protein 1 515 kDa subunit Low-density lipoprotein receptor-related protein 1 intracellular domain
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CD markers Transporters Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins Candidate cardiovascular disease genes Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of skin Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001523[retinoid metabolic process] GO:0001540[amyloid-beta binding] GO:0002265[astrocyte activation involved in immune response] GO:0003723[RNA binding] GO:0005041[low-density lipoprotein particle receptor activity] GO:0005044[scavenger receptor activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005765[lysosomal membrane] GO:0005769[early endosome] GO:0005794[Golgi apparatus] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005905[clathrin-coated pit] GO:0005925[focal adhesion] GO:0006629[lipid metabolic process] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0006909[phagocytosis] GO:0007041[lysosomal transport] GO:0007167[enzyme-linked receptor protein signaling pathway] GO:0010629[negative regulation of gene expression] GO:0010715[regulation of extracellular matrix disassembly] GO:0010875[positive regulation of cholesterol efflux] GO:0010942[positive regulation of cell death] GO:0014912[negative regulation of smooth muscle cell migration] GO:0016020[membrane] GO:0016323[basolateral plasma membrane] GO:0016964[alpha-2 macroglobulin receptor activity] GO:0030178[negative regulation of Wnt signaling pathway] GO:0030226[apolipoprotein receptor activity] GO:0030666[endocytic vesicle membrane] GO:0031623[receptor internalization] GO:0032050[clathrin heavy chain binding] GO:0032092[positive regulation of protein binding] GO:0032370[positive regulation of lipid transport] GO:0032374[regulation of cholesterol transport] GO:0032429[regulation of phospholipase A2 activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0034185[apolipoprotein binding] GO:0035909[aorta morphogenesis] GO:0038023[signaling receptor activity] GO:0038024[cargo receptor activity] GO:0042953[lipoprotein transport] GO:0043235[receptor complex] GO:0043277[apoptotic cell clearance] GO:0043395[heparan sulfate proteoglycan binding] GO:0044877[protein-containing complex binding] GO:0045056[transcytosis] GO:0045807[positive regulation of endocytosis] GO:0046872[metal ion binding] GO:0060392[negative regulation of SMAD protein signal transduction] GO:0060394[negative regulation of pathway-restricted SMAD protein phosphorylation] GO:0070325[lipoprotein particle receptor binding] GO:0097242[amyloid-beta clearance] GO:0098797[plasma membrane protein complex] GO:0150093[amyloid-beta clearance by transcytosis] GO:0150094[amyloid-beta clearance by cellular catabolic process] GO:0150104[transport across blood-brain barrier] GO:1900223[positive regulation of amyloid-beta clearance] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1904300[positive regulation of transcytosis] GO:1904646[cellular response to amyloid-beta] GO:1905049[negative regulation of metallopeptidase activity] GO:1905167[positive regulation of lysosomal protein catabolic process] GO:2000587[negative regulation of platelet-derived growth factor receptor-beta signaling pathway]
H0YJI8 [Direct mapping] Prolow-density lipoprotein receptor-related protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
H0YJ88 [Direct mapping] Prolow-density lipoprotein receptor-related protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
