Homo sapiens Gene: LRP5
Summary
InnateDB Gene IDBG-61383.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRP5
Gene Name low density lipoprotein receptor-related protein 5
Synonyms BMND1; EVR1; EVR4; HBM; LR3; LRP-5; LRP7; OPPG; OPS; OPTA1; VBCH2
Species Homo sapiens
Ensembl Gene ENSG00000162337
Encoded Proteins
low density lipoprotein receptor-related protein 5
low density lipoprotein receptor-related protein 5
low density lipoprotein receptor-related protein 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. [provided by RefSeq, Nov 2009]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:68312609-68449275
Strand Forward strand
Band q13.2
Transcripts
ENST00000294304 ENSP00000294304
ENST00000529993 ENSP00000436652
ENST00000528890
ENST00000528714
ENST00000533695
ENST00000529702 ENSP00000435315
ENST00000529481
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 13 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015026 coreceptor activity
GO:0017147 Wnt-protein binding
GO:0042813 Wnt-activated receptor activity
Biological Process
GO:0001702 gastrulation with mouth forming second
GO:0001944 vasculature development
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0002076 osteoblast development
GO:0006007 glucose catabolic process
GO:0006897 endocytosis
GO:0008203 cholesterol metabolic process
GO:0008217 regulation of blood pressure
GO:0008284 positive regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0016055 Wnt signaling pathway
GO:0030326 embryonic limb morphogenesis
GO:0033690 positive regulation of osteoblast proliferation
GO:0035019 somatic stem cell 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:0042981 regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0044332 Wnt signaling pathway involved in dorsal/ventral axis specification
GO:0045600 positive regulation of fat cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045840 positive regulation of mitosis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046849 bone remodeling
GO:0046850 regulation of bone remodeling
GO:0048539 bone marrow development
GO:0048596 embryonic camera-type eye morphogenesis
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060033 anatomical structure regression
GO:0060042 retina morphogenesis in camera-type eye
GO:0060059 embryonic 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:0060828 regulation of canonical Wnt signaling pathway
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:1902262 apoptotic process involved in patterning of blood vessels
Cellular Component
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Wnt pathway
REACTOME
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
disassembly of the destruction complex and recruitment of AXIN to the membrane pathway
Signal Transduction pathway
regulation of FZD by ubiquitination pathway
negative regulation of TCF-dependent signaling by WNT ligand antagonists pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Disease pathway
KEGG
Wnt signaling pathway pathway
INOH
Wnt signaling pathway pathway
PID NCI
Wnt signaling network
N-cadherin signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.6347
RefSeq NM_001291902 NM_002335
HUGO
OMIM
CCDS CCDS8181
HPRD 04616
IMGT
EMBL
GenPept
RNA Seq Atlas