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

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: mouse all

Genomic context

Location:: 12p13.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20190607	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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

low-expressed LRP6 may be responsible of lower migration and invasion of extravillous trophoblasts and subsequent preeclampsia.
Title: Downregulated low-density lipoprotein receptor-related protein 6 induces the maldevelopment of extravillous trophoblast via Wnt/β-catenin signaling pathway.
Study shows that low-density lipoprotein receptor-related protein 6 Is essential for trophoblast survival and invasion.
Title: Low-Density Lipoprotein Receptor-Related Protein 6 Is Essential for Trophoblast Survival and Invasion.
oligomerizations of FZDs and LRP5/6 can integrate the cytoplasmic protein Dishevelled into the LRP5/6 signalosome, resulting in a robust activation of ligand-independent beta-catenin signaling
Title: Oligomerization of Frizzled and LRP5/6 protein initiates intracellular signaling for the canonical WNT/β-catenin pathway.
we focus on the role of LRP6 genetic polymorphisms and Wnt signaling in complex diseases, and the mechanisms from mouse models and cell lines. It is also highly anticipated that LRP6 variants will be applied clinically in the future
Title: Harnessing low-density lipoprotein receptor protein 6 (LRP6) genetic variation and Wnt signaling for innovative diagnostics in complex diseases.
knockdown of LRP6 inhibited the cell viability by activation of Drp1 in glucose deprived-cardiomyocytes.
Title: Knockdown of LRP6 activates Drp1 to inhibit survival of cardiomyocytes during glucose deprivation.
Three rare missense mutations (c.1514A>G, p.Y505C); c.2984A>G, p.D995G; and c.4280C>A, p.P1427Q) of the LRP6 gene were identified in Chinese NTD patients. The Y505C mutation is a loss-of-function mutation on both WNT/beta-catenin and PCP signaling. The D995G mutation partially lost inhibition on PCP signaling without affecting WNT/beta-catenin signaling. The P1427Q mutation dramatically increased WNT/beta-catenin signa...
Title: Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.
LRP6 endocytosis proceeds by two routes, depending on the presence of LDL, and that LRP6 controls the intracellular destination of NPC1L1 in hepatocytes.
Title: LDL switches the LRP6 internalization route from flotillin dependent to clathrin dependent in hepatic cells.
High Expressions of LRP6 is associated with cancer.
Title: Low-density lipoprotein receptor-related protein 6 is a novel coreceptor of protease-activated receptor-2 in the dynamics of cancer-associated β-catenin stabilization.
LRP6 expression was found to be upregulated in oral squamous cell carcinoma tissues, and correlated with a cluster of clinicopathologic parameters, including smoking, drinking, tumor differentiation status, lymph node metastasis and survival time.
Title: LRP6 is identified as a potential prognostic marker for oral squamous cell carcinoma via MALDI-IMS.
CCN2 plays a promoting role in hepatocellular carcinoma (HCC)progression through activating LRP6 in a HSPGs-dependent manner. Heparin in combination with chemotherapy has a synergic effect and could be a treatment choice for HCCs with a high CCN2 expression.
Title: Maintenance of stemness is associated with the interation of LRP6 and heparin-binding protein CCN2 autocrined by hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (145)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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 NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Breast cancer, organism-specific biosystem (from KEGG)
Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
Breast cancer, conserved biosystem (from KEGG)
Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
Canonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
Canonical Wnt signaling pathway, organism-specific biosystem
Canonical Wnt signaling pathway
Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystem (from REACTOME)
Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystemUpon stimulation with WNT ligand, AXIN and GSK3beta are recruited to the plasma membrane through interaction with DVL (Tamai et al, 2004; Mao et al, 2001; reviewed in He et al, 2004). Polymerization...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Diseases of signal transduction, organism-specific biosystem (from REACTOME)
Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
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...
Negative regulation of TCF-dependent signaling by WNT ligand antagonists, organism-specific biosystem (from REACTOME)
Negative regulation of TCF-dependent signaling by WNT ligand antagonists, organism-specific biosystemSeveral unrelated families of secreted proteins antagonize WNT signaling. Secreted frizzled-related proteins (sFRPs) have a cysteine rich domain (CRD) that is also found in FZD and ROR receptors, wh...
Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
Presenilin action in Notch and Wnt signaling, organism-specific biosystem
Presenilin action in Notch and Wnt signaling
Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
RNF mutants show enhanced WNT signaling and proliferation, organism-specific biosystem (from REACTOME)
RNF mutants show enhanced WNT signaling and proliferation, organism-specific biosystemRNF43 and related protein ZNRF3 are E3 ubiquitin ligases that negatively regulate WNT signaling by downregulating FZD receptors at the cell surface (Mukai et al, 2010; Hao et al, 2012). Frameshift l...
Regulation of FZD by ubiquitination, organism-specific biosystem (from REACTOME)
Regulation of FZD by ubiquitination, organism-specific biosystemWNT responsiveness is influenced by expression levels of FZD and LRP proteins. Levels of these receptors at the cell surface are regulated in part by endocytosis, but the mechanisms are not fully el...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by WNT in cancer, organism-specific biosystem (from REACTOME)
Signaling by WNT in cancer, organism-specific biosystemThe WNT signaling pathway has been linked with cancer ever since the identification of the first WNT as a gene activated by integration of mouse mammary tumor virus proviral DNA in virally-induced br...
Signaling by Wnt, organism-specific biosystem (from REACTOME)
Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
Wnt Signaling Pathway, organism-specific biosystem (from WikiPathways)
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 Netpath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...
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...
Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystem (from WikiPathways)
Wnt/beta-catenin Signaling Pathway in Leukemia, organism-specific biosystemThe Wnt/Beta-catenin pathway mediates the transcription of proteins important for maintenance and growth of hematopoietic stem cells. The inhibition of Wnt leads to protein degradation through Beta-C...
mTOR signaling pathway, organism-specific biosystem (from KEGG)
mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
mTOR signaling pathway, conserved biosystem (from KEGG)
mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1310 (e-PCR)
- UniSTS:73986

RH70320 (e-PCR)
- UniSTS:58218

RH80314 (e-PCR)
- UniSTS:89732

G41288 (e-PCR)
- UniSTS:20362

Lrp6 (e-PCR), detects polymorphism
- UniSTS:507036

BTA05_16075:706838514:1 (e-PCR)
- UniSTS:267949

MARC_16075-16076:1041970786:1 (e-PCR)
- UniSTS:267949

Lrp6 (e-PCR), detects polymorphism
- UniSTS:528050

G41286 (e-PCR)
- UniSTS:80060

RH104205 (e-PCR)
- UniSTS:98530

LRP6_4011 (e-PCR)
- UniSTS:462321

Homology

Homologs of the LRP6 gene: The LRP6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 245 organisms have orthologs with human gene LRP6
Orthologs

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 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
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
caveola	IBA Inferred from Biological aspect of Ancestor more info	PubMed
colocalizes_with caveola	IDA Inferred from Direct Assay more info	PubMed
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

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

Names: LRP-6

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.

Genomic

NG_016168.2 RefSeqGene

Range

5001..155853

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002336.3 → NP_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:483 → 524

LY; Low-density lipoprotein-receptor YWTD domain

cd00112
Location:1326 → 1360

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:55 → 93

NHL; NHL repeat [structural motif]

pfam00058
Location:150 → 190

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:592 → 627

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl18310
Location:55 → 272

NHL; NHL repeat unit of beta-propeller proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p13 Primary Assembly

Range

12116025..12267044 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520671.3 → XP_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:332 → 373

LY; Low-density lipoprotein-receptor YWTD domain

cd00112
Location:1175 → 1209

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:1 → 39

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:441 → 476

FXa_inhibition; Coagulation Factor Xa inhibitory site
XM_006719078.4 → XP_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:483 → 524

LY; Low-density lipoprotein-receptor YWTD domain

cd00112
Location:1326 → 1360

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:55 → 93

NHL; NHL repeat [structural motif]

pfam00058
Location:150 → 190

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:592 → 627

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl18310
Location:55 → 272

NHL; NHL repeat unit of beta-propeller proteins