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    Lrp5 low density lipoprotein receptor-related protein 5 [ Mus musculus (house mouse) ]

    Gene ID: 16973, updated on 27-Nov-2024

    Summary

    Official Symbol
    Lrp5provided by MGI
    Official Full Name
    low density lipoprotein receptor-related protein 5provided by MGI
    Primary source
    MGI:MGI:1278315
    See related
    Ensembl:ENSMUSG00000024913 AllianceGenome:MGI:1278315
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HBM; LR3; LRP7; OPPG; BMND1; mKIAA4142
    Summary
    Enables Wnt receptor activity and Wnt-protein binding activity. Involved in several processes, including cell surface receptor signaling pathway; osteoblast development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including embryonic morphogenesis; mammary gland development; and vasculature development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; bone remodeling disease (multiple); eye disease (multiple); osteoporosis-pseudoglioma syndrome; and polycystic liver disease (multiple). Orthologous to several human genes including LRP5 (LDL receptor related protein 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 38.3), lung adult (RPKM 30.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Lrp5 in Genome Data Viewer
    Location:
    19 A; 19 3.33 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3634825..3736574, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3584825..3686585, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6, regulatory subunit 3 Neighboring gene predicted gene, 23940 Neighboring gene STARR-seq mESC enhancer starr_45318 Neighboring gene STARR-positive B cell enhancer ABC_E401 Neighboring gene UTP3, small subunit processome component, homolog pseudogene Neighboring gene VISTA enhancer mm1719 Neighboring gene RIKEN cDNA 1810055G02 gene Neighboring gene predicted gene, 36672 Neighboring gene STARR-positive B cell enhancer ABC_E5671 Neighboring gene predicted gene, 36608 Neighboring gene predicted gene, 36787

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA4142

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables Wnt receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Wnt receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables Wnt-protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Wnt-protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables coreceptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables coreceptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within amino acid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within anatomical structure regression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within apoptotic process involved in blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone marrow development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within bone remodeling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within bone remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in mammary gland duct morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell migration involved in gastrulation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell-cell signaling involved in mammary gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within establishment of blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment of blood-retinal barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within gastrulation with mouth forming second IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within limb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within mammary gland duct morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within mesodermal cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within osteoblast development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of osteoblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within retina vasculature development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina vasculature morphogenesis in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retinal blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    low-density lipoprotein receptor-related protein 5
    Names
    LRP-5
    LRP-7
    low-density lipoprotein receptor-related protein 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_008513.3NP_032539.2  low-density lipoprotein receptor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_032539.2

      Status: VALIDATED

      Source sequence(s)
      AK081025, AK147330, BB070734
      Consensus CDS
      CCDS37881.1
      UniProtKB/Swiss-Prot
      E9QQ75, O88883, Q91VN0, Q9R208
      UniProtKB/TrEMBL
      Q3UI55
      Related
      ENSMUSP00000025856.11, ENSMUST00000025856.17
      Conserved Domains (6) summary
      smart00135
      Location:407449
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:12971331
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd05819
      Location:719755
      NHL; NHL repeat [structural motif]
      pfam00058
      Location:162202
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:298335
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:684877
      NHL; NHL repeat unit of beta-propeller proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      3634825..3736574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_388250.3 RNA Sequence