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LRP6 LDL receptor related protein 6 [ Homo sapiens (human) ]

Gene ID: 4040, updated on 1-Jun-2020

Summary

Official Symbol
LRP6provided by HGNC
Official Full Name
LDL receptor related protein 6provided by HGNC
Primary source
HGNC:HGNC:6698
See related
Ensembl:ENSG00000070018 MIM:603507
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
ADCAD2; STHAG7
Summary
This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
Expression
Ubiquitous expression in placenta (RPKM 10.1), ovary (RPKM 7.4) and 24 other tissues See more
Orthologs

Genomic context

See LRP6 in Genome Data Viewer
Location:
12p13.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (12116025..12267044, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12268959..12419811, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BCL2 like 14 Neighboring gene microRNA 1244-4 Neighboring gene prothymosin alpha pseudogene 9 Neighboring gene ribosomal protein L21 pseudogene 100 Neighboring gene mortality factor 4 like 1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 545, pseudogene Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene Neighboring gene RNA, U6 small nuclear 318, pseudogene Neighboring gene MANSC domain containing 1 Neighboring gene ribosomal protein L23a pseudogene 66

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
Coronary artery disease, autosomal dominant 2
MedGen: C1970440 OMIM: 610947 GeneReviews: Not available
Compare labs
Tooth agenesis, selective, 7
MedGen: C4225231 OMIM: 616724 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90062, FLJ90421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Wnt-activated receptor activity IEA
Inferred from Electronic Annotation
more info
 
Wnt-protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Wnt-protein binding TAS
Traceable Author Statement
more info
PubMed 
apolipoprotein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
coreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
coreceptor activity involved in Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
coreceptor activity involved in canonical Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
frizzled binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
low-density lipoprotein particle receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
low-density lipoprotein particle receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
toxin transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT toxin transmembrane 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 midbrain dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
Wnt signaling pathway involved in somitogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axis elongation involved in somitogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-catenin destruction complex disassembly TAS
Traceable Author Statement
more info
 
bone morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
branching involved in mammary gland duct morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
PubMed 
canonical Wnt signaling pathway involved in neural crest cell differentiation IC
Inferred by Curator
more info
PubMed 
canonical Wnt signaling pathway involved in regulation of cell proliferation IC
Inferred by Curator
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebellum morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
convergent extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopaminergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic camera-type eye morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic limb morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic retina morphogenesis in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external genitalia morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
face morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gastrulation with mouth forming second IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbrain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbrain dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
midbrain-hindbrain boundary development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smooth muscle cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural crest cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural crest cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
neural crest formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural crest formation IDA
Inferred from Direct Assay
more info
PubMed 
neural tube closure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
odontogenesis of dentin-containing tooth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pericardium morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
primitive streak formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IPI
Inferred from Physical Interaction
more info
PubMed 
receptor-mediated endocytosis involved in cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ossification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thalamus development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
trachea cartilage morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Wnt signalosome IDA
Inferred from Direct Assay
more info
PubMed 
Wnt signalosome NAS
Non-traceable Author Statement
more info
PubMed 
Wnt-Frizzled-LRP5/6 complex IDA
Inferred from Direct Assay
more info
PubMed 
Wnt-Frizzled-LRP5/6 complex IPI
Inferred from Physical Interaction
more info
PubMed 
Wnt-Frizzled-LRP5/6 complex TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with caveola IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
low-density lipoprotein receptor-related protein 6
Names
LRP-6

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

  1. NG_016168.2 RefSeqGene

    Range
    4834..155853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002336.3NP_002327.2  low-density lipoprotein receptor-related protein 6 precursor

    See identical proteins and their annotated locations for NP_002327.2

    Status: REVIEWED

    Source sequence(s)
    AA126261, AC007537, AC007621, AF074264, BC126405, BP229563
    Consensus CDS
    CCDS8647.1
    UniProtKB/Swiss-Prot
    O75581
    Related
    ENSP00000261349.4, ENST00000261349.9
    Conserved Domains (6) summary
    smart00135
    Location:483524
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:13261360
    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:5593
    NHL; NHL repeat [structural motif]
    pfam00058
    Location:150190
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:592627
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl18310
    Location:55272
    NHL; NHL repeat unit of beta-propeller proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    12116025..12267044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520671.3XP_011518973.1  low-density lipoprotein receptor-related protein 6 isoform X2

    See identical proteins and their annotated locations for XP_011518973.1

    Conserved Domains (4) summary
    smart00135
    Location:332373
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:11751209
    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:139
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:441476
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. XM_006719078.4XP_006719141.1  low-density lipoprotein receptor-related protein 6 isoform X1

    See identical proteins and their annotated locations for XP_006719141.1

    UniProtKB/Swiss-Prot
    O75581
    Related
    ENSP00000445083.1, ENST00000538239.5
    Conserved Domains (6) summary
    smart00135
    Location:483524
    LY; Low-density lipoprotein-receptor YWTD domain
    cd00112
    Location:13261360
    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:5593
    NHL; NHL repeat [structural motif]
    pfam00058
    Location:150190
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:592627
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl18310
    Location:55272
    NHL; NHL repeat unit of beta-propeller proteins

RNA

  1. XR_002957325.1 RNA Sequence

  2. XR_429035.3 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332696.1 Reference GRCh38.p13 PATCHES

    Range
    85023..236042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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