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    LRP5 LDL receptor related protein 5 [ Homo sapiens (human) ]

    Gene ID: 4041, updated on 8-Jul-2021

    Summary

    Official Symbol
    LRP5provided by HGNC
    Official Full Name
    LDL receptor related protein 5provided by HGNC
    Primary source
    HGNC:HGNC:6697
    See related
    Ensembl:ENSG00000162337 MIM:603506
    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; LRP-5; LRP-7; OPTA1; PCLD4; 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in fat (RPKM 20.9), small intestine (RPKM 15.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRP5 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68298866..68449275)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68080059..68216743)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369363 Neighboring gene chromosome 11 open reading frame 24 Neighboring gene protein phosphatase 6 regulatory subunit 3 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2 Neighboring gene uncharacterized LOC107984343 Neighboring gene galanin and GMAP prepropeptide

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant osteopetrosis 1
    MedGen: C1843330 OMIM: 607634 GeneReviews: Not available
    Compare labs
    Bone mineral density quantitative trait locus 1
    MedGen: C1866079 OMIM: 601884 GeneReviews: Not available
    Compare labs
    Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
    GeneReviews: Not available
    Exudative vitreoretinopathy 1
    MedGen: C1851402 OMIM: 133780 GeneReviews: Not available
    Compare labs
    Exudative vitreoretinopathy 4
    MedGen: C1866176 OMIM: 601813 GeneReviews: Not available
    Compare labs
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    GeneReviews: Not available
    Osteoporosis with pseudoglioma
    MedGen: C0432252 OMIM: 259770 GeneReviews: Not available
    Compare labs
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    GeneReviews: Not available
    Polycystic liver disease 4 with or without kidney cysts
    MedGen: C4693479 OMIM: 617875 GeneReviews: Not available
    Compare labs
    Postmenopausal osteoporosis
    MedGen: C0029458 OMIM: 166710 GeneReviews: Not available
    Compare labs
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    GeneReviews: Not available
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-04-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2015-04-02)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Wnt-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Wnt-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables Wnt-protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Wnt-protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables Wnt-protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables coreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables coreceptor activity involved in Wnt signaling pathway IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables coreceptor activity involved in canonical Wnt signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables toxin transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Norrin signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adipose tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anatomical structure regression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in apoptotic process involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone marrow development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in bone marrow development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in branching involved in mammary gland duct morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    involved_in cell migration involved in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling involved in mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation with mouth forming second IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glucose catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of insulin secretion involved in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retinal blood vessel morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in retinal blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Wnt signalosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of Wnt-Frizzled-LRP5/6 complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of 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
    low density lipoprotein receptor-related protein 7

    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.

    Genomic

    1. NG_015835.2 RefSeqGene

      Range
      4952..141636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291902.2NP_001278831.1  low-density lipoprotein receptor-related protein 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and uses and alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB017498, AI583742, AP000807, AP002813, BC098397, BC150595, DN999254
      UniProtKB/Swiss-Prot
      O75197
      Conserved Domains (6) summary
      smart00135
      Location:129171
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:755789
      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:139175
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:677714
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam14670
      Location:2459
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:104297
      NHL; NHL repeat unit of beta-propeller proteins
    2. NM_002335.4NP_002326.2  low-density lipoprotein receptor-related protein 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_002326.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB017498, AI583742, AP000807, AP002813, BC150595, DN999254
      Consensus CDS
      CCDS8181.1
      UniProtKB/Swiss-Prot
      O75197
      Related
      ENSP00000294304.6, ENST00000294304.12
      Conserved Domains (7) summary
      smart00135
      Location:408450
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:13361370
      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:720756
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:12581295
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:163203
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:299336
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:685878
      NHL; NHL repeat unit of beta-propeller proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      68298866..68449275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545029.1XP_011543331.1  low-density lipoprotein receptor-related protein 5 isoform X1

      Conserved Domains (7) summary
      smart00135
      Location:417459
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:13451379
      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:729765
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:12671304
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:172212
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:308345
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:694887
      NHL; NHL repeat unit of beta-propeller proteins
    2. XM_011545030.1XP_011543332.1  low-density lipoprotein receptor-related protein 5 isoform X3

      Conserved Domains (7) summary
      smart00135
      Location:417459
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:13451379
      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:729765
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:12671304
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:172212
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:308345
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:694887
      NHL; NHL repeat unit of beta-propeller proteins
    3. XM_011545031.1XP_011543333.1  low-density lipoprotein receptor-related protein 5 isoform X4

      Conserved Domains (7) summary
      smart00135
      Location:417459
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:13451379
      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:729765
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:12671304
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:172212
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:308345
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:694887
      NHL; NHL repeat unit of beta-propeller proteins
    4. XM_005273994.2XP_005274051.1  low-density lipoprotein receptor-related protein 5 isoform X2

      Conserved Domains (7) summary
      smart00135
      Location:408450
      LY; Low-density lipoprotein-receptor YWTD domain
      cd00112
      Location:13361370
      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:720756
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:12581295
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:163203
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:299336
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:685878
      NHL; NHL repeat unit of beta-propeller proteins
    5. XM_017017735.1XP_016873224.1  low-density lipoprotein receptor-related protein 5 isoform X5

    6. XM_017017736.1XP_016873225.1  low-density lipoprotein receptor-related protein 5 isoform X6

    RNA

    1. XR_949926.2 RNA Sequence

    2. XR_949925.2 RNA Sequence

      Related
      ENST00000529993.5
    3. XR_001747874.1 RNA Sequence

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