LRP5
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| LDL receptor related protein 5 | MIM:603506 | Ensembl:ENSG00000162337 | HGNC:HGNC:6697 | PA30455 | 11q13.2 |
GO terms in LRP5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | TAS | GO:1990851 | Wnt-Frizzled-LRP5/6 complex |
| CC | NAS | GO:1990909 | Wnt signalosome |
| BP | IBA | GO:0001702 | gastrulation with mouth forming second |
| BP | IEA | GO:0001702 | gastrulation with mouth forming second |
| BP | IMP | GO:0002053 | positive regulation of mesenchymal cell proliferation |
| BP | IBA | GO:0002076 | osteoblast development |
| BP | IMP | GO:0006007 | glucose catabolic process |
| BP | IEA | GO:0006897 | endocytosis |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IMP | GO:0008217 | regulation of blood pressure |
| BP | IDA | GO:0008284 | positive regulation of cell proliferation |
| BP | IEA | GO:0009314 | response to radiation |
| BP | IBA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IDA | GO:0016055 | Wnt signaling pathway |
| BP | IGI | GO:0016055 | Wnt signaling pathway |
| BP | IBA | GO:0030278 | regulation of ossification |
| BP | IEA | GO:0033690 | positive regulation of osteoblast proliferation |
| BP | IEA | GO:0035019 | somatic stem cell population maintenance |
| BP | IEA | GO:0035426 | extracellular matrix-cell signaling |
| BP | IEA | GO:0042074 | cell migration involved in gastrulation |
| BP | IBA | GO:0042632 | cholesterol homeostasis |
| BP | IMP | GO:0042632 | cholesterol homeostasis |
| BP | IEA | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0042981 | regulation of apoptotic process |
| BP | IEA | GO:0043434 | response to peptide hormone |
| BP | IBA | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification |
| BP | IDA | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification |
| BP | IMP | GO:0045600 | positive regulation of fat cell differentiation |
| BP | IMP | GO:0045668 | negative regulation of osteoblast differentiation |
| BP | IDA | GO:0045840 | positive regulation of mitotic nuclear division |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0046849 | bone remodeling |
| BP | IEA | GO:0046849 | bone remodeling |
| BP | IEA | GO:0046850 | regulation of bone remodeling |
| BP | IBA | GO:0048539 | bone marrow development |
| BP | IMP | GO:0048539 | bone marrow development |
| BP | IEA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0060033 | anatomical structure regression |
| BP | IMP | GO:0060042 | retina morphogenesis in camera-type eye |
| BP | IBA | GO:0060070 | canonical Wnt signaling pathway |
| BP | IDA | GO:0060070 | canonical Wnt signaling pathway |
| BP | IMP | GO:0060070 | canonical Wnt signaling pathway |
| BP | IBA | GO:0060349 | bone morphogenesis |
| BP | IMP | GO:0060349 | bone morphogenesis |
| BP | IBA | GO:0060444 | branching involved in mammary gland duct morphogenesis |
| BP | IEA | GO:0060444 | branching involved in mammary gland duct morphogenesis |
| BP | IBA | GO:0060612 | adipose tissue development |
| BP | IMP | GO:0060612 | adipose tissue development |
| BP | IEA | GO:0060764 | cell-cell signaling involved in mammary gland development |
| BP | IGI | GO:0060828 | regulation of canonical Wnt signaling pathway |
| BP | IMP | GO:0060828 | regulation of canonical Wnt signaling pathway |
| BP | IBA | GO:0061178 | regulation of insulin secretion involved in cellular response to glucose stimulus |
| BP | IBA | GO:0061304 | retinal blood vessel morphogenesis |
| BP | IMP | GO:0061304 | retinal blood vessel morphogenesis |
| BP | IMP | GO:0071901 | negative regulation of protein serine/threonine kinase activity |
| BP | IEA | GO:1902262 | apoptotic process involved in blood vessel morphogenesis |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0015026 | coreceptor activity |
| MF | IBA | GO:0017147 | Wnt-protein binding |
| MF | IPI | GO:0017147 | Wnt-protein binding |
| MF | ISS | GO:0017147 | Wnt-protein binding |
| MF | TAS | GO:0017147 | Wnt-protein binding |
| MF | IMP | GO:0019534 | toxin transmembrane transporter activity |
| MF | IBA | GO:0042813 | Wnt-activated receptor activity |
| MF | ISS | GO:0042813 | Wnt-activated receptor activity |
| MF | IPI | GO:0071936 | coreceptor activity involved in Wnt signaling pathway |
| MF | NAS | GO:1904928 | coreceptor activity involved in canonical Wnt signaling pathway |
Gene expression in normal tissue: LRP5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LRP5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | ncadherinpathway | N-cadherin signaling events |
| pid | wnt_signaling_pathway | Wnt signaling network |
| kegg | hsa04150 | mTOR signaling pathway - Homo sapiens (human) |
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| netpath | Pathway_Wnt | Wnt |
| wikipathways | WP1544 | MicroRNAs in cardiomyocyte hypertrophy |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
| wikipathways | WP2804 | Hair Follicle Development- Induction (Part 1 of 3) |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP363 | Wnt Signaling Pathway |
| wikipathways | WP3658 | Wnt-beta-catenin Signaling Pathway in Leukemia |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| wikipathways | WP399 | Wnt Signaling Pathway and Pluripotency |
| wikipathways | WP4150 | Wnt Signaling in Kidney Disease |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP428 | Wnt Signaling Pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-3772470 | Negative regulation of TCF-dependent signaling by WNT ligand antagonists |
| reactome | R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane |
| reactome | R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane |
| reactome | R-HSA-4641263 | Regulation of FZD by ubiquitination |
| reactome | R-HSA-4791275 | Signaling by WNT in cancer |
| reactome | R-HSA-5339717 | Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling |
| reactome | R-HSA-5340588 | RNF mutants show enhanced WNT signaling and proliferation |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LRP5
CLASSFICATION
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