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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).
Disease related genes Human disease related genes
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
11
Cytoband
q13.2
Chromosome location (bp)
68312591 - 68449275
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins 1,2,3,4,5,6. Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration 7,8. In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass 9. Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs 10,11,12,13. Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development 14,15. Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (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 transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]...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.
O75197 [Direct mapping] Low-density lipoprotein receptor-related protein 5
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Disease related genes Human disease related genes Congenital malformations Congenital malformations of the digestive system Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0001702[gastrulation with mouth forming second] GO:0001944[vasculature development] GO:0002053[positive regulation of mesenchymal cell proliferation] GO:0002076[osteoblast development] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005886[plasma membrane] GO:0006007[glucose catabolic process] GO:0006897[endocytosis] GO:0008078[mesodermal cell migration] GO:0008203[cholesterol metabolic process] GO:0008217[regulation of blood pressure] GO:0008284[positive regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0015026[coreceptor activity] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0017147[Wnt-protein binding] GO:0033687[osteoblast proliferation] GO:0033690[positive regulation of osteoblast proliferation] GO:0035019[somatic stem cell population maintenance] GO:0035108[limb morphogenesis] GO:0035426[extracellular matrix-cell signaling] GO:0042074[cell migration involved in gastrulation] GO:0042632[cholesterol homeostasis] GO:0042733[embryonic digit morphogenesis] GO:0042813[Wnt receptor activity] GO:0042981[regulation of apoptotic process] GO:0043235[receptor complex] GO:0045600[positive regulation of fat cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045840[positive regulation of mitotic nuclear division] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046849[bone remodeling] GO:0048539[bone marrow development] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060033[anatomical structure regression] GO:0060042[retina morphogenesis in camera-type eye] GO:0060070[canonical Wnt signaling pathway] GO:0060348[bone development] GO:0060349[bone morphogenesis] GO:0060444[branching involved in mammary gland duct morphogenesis] GO:0060603[mammary gland duct morphogenesis] GO:0060612[adipose tissue development] GO:0060764[cell-cell signaling involved in mammary gland development] GO:0061178[regulation of insulin secretion involved in cellular response to glucose stimulus] GO:0061299[retina vasculature morphogenesis in camera-type eye] GO:0061304[retinal blood vessel morphogenesis] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071936[coreceptor activity involved in Wnt signaling pathway] GO:0110135[Norrin signaling pathway] GO:1902262[apoptotic process involved in blood vessel morphogenesis] GO:1904928[coreceptor activity involved in canonical Wnt signaling pathway] GO:1990851[Wnt-Frizzled-LRP5/6 complex] GO:1990909[Wnt signalosome]
H0YE98 [Direct mapping] Low-density lipoprotein receptor-related protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the digestive system Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
