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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).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
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
p13.2
Chromosome location (bp)
12116025 - 12267044
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalosomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity)....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, Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
O75581 [Direct mapping] Low-density lipoprotein receptor-related protein 6
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Vascular diseases Digestive system diseases Mouth and dental diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0001933[negative regulation of protein phosphorylation] GO:0005041[low-density lipoprotein particle receptor activity] GO:0005102[signaling receptor binding] GO:0005109[frizzled binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005769[early endosome] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0006355[regulation of DNA-templated transcription] GO:0006469[negative regulation of protein kinase activity] GO:0006897[endocytosis] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007268[chemical synaptic transmission] GO:0009986[cell surface] GO:0014029[neural crest formation] GO:0014033[neural crest cell differentiation] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0017147[Wnt-protein binding] GO:0019210[kinase inhibitor activity] GO:0019534[toxin transmembrane transporter activity] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0034392[negative regulation of smooth muscle cell apoptotic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042813[Wnt receptor activity] GO:0043025[neuronal cell body] GO:0043434[response to peptide hormone] GO:0044335[canonical Wnt signaling pathway involved in neural crest cell differentiation] GO:0044340[canonical Wnt signaling pathway involved in regulation of cell proliferation] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045787[positive regulation of cell cycle] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060070[canonical Wnt signaling pathway] GO:0071397[cellular response to cholesterol] GO:0071542[dopaminergic neuron differentiation] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071936[coreceptor activity involved in Wnt signaling pathway] GO:0072659[protein localization to plasma membrane] GO:0090118[receptor-mediated endocytosis involved in cholesterol transport] GO:0090244[Wnt signaling pathway involved in somitogenesis] GO:0098609[cell-cell adhesion] GO:1901998[toxin transport] GO:1904928[coreceptor activity involved in canonical Wnt signaling pathway] GO:1904948[midbrain dopaminergic neuron differentiation] GO:1904953[Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation] GO:1990851[Wnt-Frizzled-LRP5/6 complex] GO:1990909[Wnt signalosome]
F5H0Z3 [Direct mapping] Low-density lipoprotein receptor-related protein 6
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Vascular diseases Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
H0YGH0 [Direct mapping] Low-density lipoprotein receptor-related protein 6
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Vascular diseases Digestive system diseases Mouth and dental diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
