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

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-activated receptor activity and Wnt-protein binding activity. Involved in several processes, including cell surface receptor signaling pathway involved in cell-cell signaling; positive regulation of osteoblast differentiation; and regulation of transcription, DNA-templated. 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; immune system; 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. Orthologous to human LRP5 (LDL receptor related protein 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 38.3), lung adult (RPKM 30.1) and 24 other tissues See more
Orthologs: human all
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Genomic context

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration.
Title: The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration.
Paternal sleep deprivation induces metabolic perturbations in male offspring via altered LRP5 DNA methylation of pancreatic islets.
Title: Paternal sleep deprivation induces metabolic perturbations in male offspring via altered LRP5 DNA methylation of pancreatic islets.
In Adult Skeletal Muscles, the Co-Receptors of Canonical Wnt Signaling, Lrp5 and Lrp6, Determine the Distribution and Size of Fiber Types, and Structure and Function of Neuromuscular Junctions.
Title: In Adult Skeletal Muscles, the Co-Receptors of Canonical Wnt Signaling, Lrp5 and Lrp6, Determine the Distribution and Size of Fiber Types, and Structure and Function of Neuromuscular Junctions.
mTOR is involved in LRP5-induced osteogenic differentiation of normal and aged periodontal ligament stem cells in vitro.
Title: mTOR is involved in LRP5-induced osteogenic differentiation of normal and aged periodontal ligament stem cells in vitro.
LRP5 regulates cardiomyocyte proliferation and neonatal heart regeneration by the AKT/P21 pathway.
Title: LRP5 regulates cardiomyocyte proliferation and neonatal heart regeneration by the AKT/P21 pathway.
LRP5 Promotes Gastric Cancer via Activating Canonical Wnt/beta-Catenin and Glycolysis Pathways.
Title: LRP5 Promotes Gastric Cancer via Activating Canonical Wnt/β-Catenin and Glycolysis Pathways.
The Effect of Overexpression of Lrp5 on the Temporomandibular Joint.
Title: The Effect of Overexpression of Lrp5 on the Temporomandibular Joint.
Aberrantly activated Wnt/beta-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2(S252W) (/+) ) mouse model.
Title: Aberrantly activated Wnt/β-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2(S252W)(/+) ) mouse model.
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Title: Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Gain-of-Function Lrp5 Mutation Improves Bone Mass and Strength and Delays Hyperglycemia in a Mouse Model of Insulin-Deficient Diabetes.
Title: Gain-of-Function Lrp5 Mutation Improves Bone Mass and Strength and Delays Hyperglycemia in a Mouse Model of Insulin-Deficient Diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (107)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (16) 1 citation
Chemically induced (ENU) (6) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF064984 (e-PCR)
- UniSTS:160771

D19Mit68 (e-PCR), detects polymorphism
- UniSTS:116493

Lrp5 (e-PCR), detects polymorphism
- UniSTS:495944

Lrp5 (e-PCR), detects polymorphism
- UniSTS:516484

Lrp5 (e-PCR), detects polymorphism
- UniSTS:508398

Lrp5 (e-PCR), detects polymorphism
- UniSTS:508399

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	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
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
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
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
acts_upstream_of_or_within 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
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
acts_upstream_of_or_within multicellular organism development	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 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
acts_upstream_of_or_within regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
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 membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_008513.3 → NP_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:407 → 449

LY; Low-density lipoprotein-receptor YWTD domain

cd00112
Location:1297 → 1331

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:719 → 755

NHL; NHL repeat [structural motif]

pfam00058
Location:162 → 202

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:298 → 335

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl18310
Location:684 → 877

NHL; NHL repeat unit of beta-propeller proteins