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LRP5 low density lipoprotein receptor-related protein 5 [ Homo sapiens (human) ]

Gene ID: 4041, updated on 19-Apr-2014
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]
Location :
11q13.4
Sequence :
Chromosome: 11; NC_000011.10 (68312609..68449275)
See LRP5 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724209 Neighboring gene chromosome 11 open reading frame 24 Neighboring gene uncharacterized LOC101928175 Neighboring gene protein phosphatase 6, regulatory subunit 3 Neighboring gene galanin/GMAP prepropeptide

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bone mineral density quantitative trait locus 1
MedGen: C1866079 OMIM: 601884 GeneReviews: Not available
Compare labs
Exudative vitreoretinopathy 4 Compare labs
Familial exudative vitreoretinopathy Compare labs
Osteopetrosis autosomal dominant type 1
MedGen: C1843330 OMIM: 607634 GeneReviews: Not available
Compare labs
Osteoporosis
MedGen: C0029458 OMIM: 166710 GeneReviews: Not available
Compare labs
Osteoporosis with pseudoglioma
MedGen: C0432252 OMIM: 259770 GeneReviews: Not available
Compare labs
Van Buchem disease type 2
MedGen: C1843323 OMIM: 607636 GeneReviews: Not available
Compare labs
Worth disease
MedGen: C0432273 OMIM: 144750 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
    MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
  • N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
    N-cadherin signaling events, organism-specific biosystem
    N-cadherin signaling events
  • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
  • Wnt signaling network, organism-specific biosystem (from Pathway Interaction Database)
    Wnt signaling network, organism-specific biosystem
    Wnt signaling network
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 
NOT toxin transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Wnt 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 
anatomical structure regression IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
 
apoptotic process involved in patterning of blood vessels IEA
Inferred from Electronic Annotation
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 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling involved in mammary gland development IEA
Inferred from Electronic Annotation
more info
 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
embryonic camera-type eye morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
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
 
extracellular matrix-cell signaling 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 
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 osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of bone remodeling IEA
Inferred from Electronic Annotation
more info
 
regulation of canonical Wnt 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
 
response to peptide hormone IEA
Inferred from Electronic Annotation
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 
somatic stem cell maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion 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 
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

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

  1. NG_015835.1 RefSeqGene

    Range
    5001..141636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_002326.2

    Status: REVIEWED

    Source sequence(s)
    AA279383, AA953315, AB017498, AF077820
    Consensus CDS
    CCDS8181.1
    UniProtKB/Swiss-Prot
    O75197
    Related
    ENSP00000294304, OTTHUMP00000236183, ENST00000294304, OTTHUMT00000395088
    Conserved Domains (4) summary
    smart00135
    Location:408450
    Blast Score: 154
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:13361370
    Blast Score: 147
    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:163203
    Blast Score: 156
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:299336
    Blast Score: 157
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10

    Range
    68312609..68449275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273994.1XP_005274051.1  

    Conserved Domains (4) summary
    smart00135
    Location:408450
    Blast Score: 154
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:13361370
    Blast Score: 147
    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:163203
    Blast Score: 156
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:299336
    Blast Score: 157
    FXa_inhibition; Coagulation Factor Xa inhibitory site

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    64450891..64552653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    67964570..68100925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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