LRP5 low density lipoprotein receptor-related protein 5 [Homo sapiens] - Gene

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Summary

Official Symbol: LRP5provided by HGNC
Official Full Name: low density lipoprotein receptor-related protein 5provided by HGNC
Primary source: HGNC:6697
See related: Ensembl:ENSG00000162337; HPRD:04616; MIM:603506; Vega:OTTHUMG00000167570
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HBM; LR3; OPS; EVR1; EVR4; LRP7; OPPG; BMND1; OPTA1; VBCH2
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]

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Genomic context

Location :: 11q13.4

Sequence :: Chromosome: 11; NC_000011.9 (68080108..68216743)

See LRP5 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These results suggest that LRP5 alleles influence the type of hip fractures
Title: Genetic polymorphisms of the Wnt receptor LRP5 are differentially associated with trochanteric and cervical hip fractures.
osteosarcoma patients whose primary tumors expressed LRP-5 sustained a higher risk of developing metastasis
Title: Wnt, osteosarcoma, and future therapy.
Data suggest that LRP5 may be involved in the pathogenesis of ankylosing spondylitis.
Title: The association of LRP5 gene polymorphisms with ankylosing spondylitis in a Chinese Han population.
These findings demonstrate that the A1330V and V667M polymorphisms are associated with low bone mineral density in peri- and postmenopausal Greek women.
Title: Association of the A1330V and V667M polymorphisms of LRP5 with bone mineral density in Greek peri- and postmenopausal women.
The LRP5 is a coreceptor for Wnt growth factors, and also bind Dkk proteins, secreted inhibitors of Wnt signaling.
Title: Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6.
These studies uncover a new and important molecular tuning mechanism for differential regulation of LRP5 and LRP6 phosphorylation and signaling activity.
Title: Dissecting molecular differences between Wnt coreceptors LRP5 and LRP6.
LRP5 gene rearrangement in 11q13.2 is associated with acute myeloid leukemia.
Title: A novel gene LRP5 on 11q13.2 is rearranged in two patients with acute myeloid leukemia.
Increased bone mass in Lrp5-high bone mass patients seems to be caused primarily by changes in trabecular and cortical bone mass and structure.
Title: Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high-bone-mass phenotype due to a mutation in Lrp5.
The LRP5 c.266A > G and c.3893C > T polymorphisms may be associated with risk of nonresponse to hormone therapy in postmenopausal Korean women.
Title: Association between Wnt signaling pathway gene polymorphisms and bone response to hormone therapy in postmenopausal Korean women.
Study present clinical and genetic data for four Osteoporosis-pseudoglioma sydrome patients with novel LRP5 mutations, three of which affect splicing
Title: Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

Submit: New GeneRIF Correction See all (106)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Bone mineral density variability 1

MIM: 601884

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

Osteopetrosis, autosomal dominant 1

MIM: 607634

Osteoporosis-pseudoglioma syndrome

MIM: 259770

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

Products	Interactant	Other Gene	Source	Pubs	Description
O75197	O15169	AXIN1	HPRD	PubMed
O75197	O94907	DKK1	HPRD	PubMed
O75197	Q9H461	FZD8	HPRD	PubMed
O75197	Q14696	MESDC2	HPRD	PubMed
O75197	O15198	SMAD9	HPRD	PubMed
O75197	P07996	THBS1	HPRD	PubMed
O75197	P04628	WNT1	HPRD	PubMed
BioGRID:110220	BioGRID:113909	AXIN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110220	BioGRID:113921	FZD8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110220	BioGRID:116794	MESDC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110220	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
Wnt-activated receptor activity	IBA Inferred from Biological aspect of Ancestor more info
Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
coreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
NOT toxin transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
Wnt receptor signaling pathway involved in dorsal/ventral axis specification	IDA Inferred from Direct Assay more info	PubMed
adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
bone marrow development	IMP Inferred from Mutant Phenotype more info	PubMed
bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
bone remodeling	IBA Inferred from Biological aspect of Ancestor more info
branching involved in mammary gland duct morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
canonical Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
canonical Wnt receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic camera-type eye morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
embryonic limb morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
embryonic retina morphogenesis in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
endocytosis	IEA Inferred from Electronic Annotation more info
gastrulation with mouth forming second	IBA Inferred from Biological aspect of Ancestor more info
glucose catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
osteoblast development	IBA Inferred from Biological aspect of Ancestor more info
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of mitosis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of canonical Wnt receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of insulin secretion involved in cellular response to glucose stimulus	IBA Inferred from Biological aspect of Ancestor more info
retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
retinal blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: low-density lipoprotein receptor-related protein 5

Names: low-density lipoprotein receptor-related protein 5; LRP-5; low density lipoprotein receptor-related protein 7

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_015835.1 RefSeqGene

Range

5001..141636

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002335.2 → NP_002326.2 low-density lipoprotein receptor-related protein 5 precursor

Status: REVIEWED

Source sequence(s)

AA279383, AA953315, AB017498, AF077820

Consensus CDS

CCDS8181.1

UniProtKB/Swiss-Prot

O75197

Related

ENSP00000294304, OTTHUMP00000236183, ENST00000294304, OTTHUMT00000395088

Conserved Domains (2) summary

cd00112
Location:1336 – 1370
Blast Score: 139

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 ...

cl10508
Location:408 – 450
Blast Score: 156

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

68080108..68216743

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

64450891..64552653

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF283320.1	AAK52433.1
genomic	AF283321.1	AAK52433.1
genomic	AP000807.4	None
genomic	AP002813.4 (178651..187509)	None
genomic	CH471076.1	EAW74705.1
		EAW74706.1
mRNA	AA279383.1	None
mRNA	AA953315.1	None
mRNA	AB017498.1	BAA33051.1
mRNA	AF064548.1	AAC36467.1
mRNA	AF077820.1	AAC72791.1
mRNA	AF088027.1	None
mRNA	BC098397.1	None
mRNA	BC150595.1	AAI50596.1