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

Gene ID: 16973, updated on 2-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
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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 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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 negative regulation of protein serine/threonine kinase activity 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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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)

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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