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    Lrp6 low density lipoprotein receptor-related protein 6 [ Mus musculus (house mouse) ]

    Gene ID: 16974, updated on 27-Nov-2024

    Summary

    Official Symbol
    Lrp6provided by MGI
    Official Full Name
    low density lipoprotein receptor-related protein 6provided by MGI
    Primary source
    MGI:MGI:1298218
    See related
    Ensembl:ENSMUSG00000030201 AllianceGenome:MGI:1298218
    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
    Cd; Gw; ska26; skax26; ska<m26Jus>; C030016K15Rik
    Summary
    Enables Wnt-protein binding activity; apolipoprotein binding activity; and toxin transmembrane transporter activity. Involved in cell surface receptor signaling pathway; positive regulation of neuron projection development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including central nervous system development; embryonic morphogenesis; and regionalization. Located in early endosome and plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study neural tube defect and steatotic liver disease. Human ortholog(s) of this gene implicated in tooth agenesis. Orthologous to human LRP6 (LDL receptor related protein 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 13.4), kidney adult (RPKM 13.4) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Lrp6 in Genome Data Viewer
    Location:
    6 G1; 6 65.37 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (134423439..134543876, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (134446476..134566913, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene ets variant 6 Neighboring gene RIKEN cDNA 1700051K13 gene Neighboring gene RIKEN cDNA 4933406J09 gene Neighboring gene STARR-positive B cell enhancer mm9_chr6:134288078-134288378 Neighboring gene STARR-seq mESC enhancer starr_17542 Neighboring gene STARR-positive B cell enhancer ABC_E10413 Neighboring gene STARR-positive B cell enhancer mm9_chr6:134339435-134339735 Neighboring gene STARR-seq mESC enhancer starr_17545 Neighboring gene BCL2 like 14 Neighboring gene STARR-seq mESC enhancer starr_17546 Neighboring gene STARR-positive B cell enhancer mm9_chr6:134565289-134565590 Neighboring gene STARR-positive B cell enhancer ABC_E9105 Neighboring gene MANSC domain containing 1 Neighboring gene BLOC-1 related complex subunit 5 Neighboring gene predicted gene, 57779

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables Wnt receptor activity IEA
    Inferred from Electronic Annotation
    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 apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables coreceptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables frizzled binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables low-density lipoprotein particle receptor activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables toxin transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables toxin transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within Wnt signaling pathway involved in forebrain neuroblast division IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within Wnt signaling pathway involved in forebrain neuroblast division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within Wnt signaling pathway involved in somitogenesis 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 anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within axis elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within axis elongation involved in somitogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
     
    acts_upstream_of_or_within bone remodeling IGI
    Inferred from Genetic Interaction
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of cardiac muscle tissue morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell migration involved in gastrulation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to cholesterol ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cerebellum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebral cortex cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chemical synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within convergent extension IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within dopaminergic neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dorsal/ventral axis specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic forelimb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    acts_upstream_of_or_within external genitalia morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain generation of neurons IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forebrain radial glial cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within formation of radial glial scaffolds IGI
    Inferred from Genetic Interaction
    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 generation of neurons IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart looping IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within limb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within limb morphogenesis IMP
    Inferred from Mutant Phenotype
    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 mammary placode formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesodermal cell migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within midbrain-hindbrain boundary development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within morphogenesis of an epithelium IMP
    Inferred from Mutant Phenotype
    more info
     
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of non-canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of smooth muscle cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neural crest cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neural crest formation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of neural tube closure IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of outflow tract morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of pericardium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within pericardium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within post-anal tail morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within post-anal tail morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within primitive streak formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within receptor-mediated endocytosis involved in cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to folic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somitogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within thalamus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within trachea cartilage morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of ventricular septum morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of Wnt signalosome ISO
    Inferred from Sequence Orthology
    more info
     
    part_of Wnt-Frizzled-LRP5/6 complex ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with caveola ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    low-density lipoprotein receptor-related protein 6
    Names
    LRP-6
    crooked
    low density lipoprotein receptor-related protein 6; low density lipoprotein-related protein 6
    low density lipoprotein-related protein 6

    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_008514.4NP_032540.2  low-density lipoprotein receptor-related protein 6 precursor

      See identical proteins and their annotated locations for NP_032540.2

      Status: VALIDATED

      Source sequence(s)
      AC155838, BC060704
      Consensus CDS
      CCDS39678.1
      UniProtKB/Swiss-Prot
      O88572
      UniProtKB/TrEMBL
      A0A0R4J0A9
      Related
      ENSMUSP00000032322.9, ENSMUST00000032322.15
      Conserved Domains (6) summary
      smart00135
      Location:397437
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:12881322
      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:5593
      NHL; NHL repeat [structural motif]
      pfam00058
      Location:150190
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:592627
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:55272
      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_000072.7 Reference GRCm39 C57BL/6J

      Range
      134423439..134543876 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505657.5XP_006505720.1  low-density lipoprotein receptor-related protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O88572
      Conserved Domains (5) summary
      smart00135
      Location:246286
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:11371171
      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 ...
      pfam00058
      Location:139
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:441476
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl39070
      Location:918959
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B