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UniProtKB - P01130 (LDLR_HUMAN)

Entry version 249 (02 Dec 2020)
Sequence version 1 (21 Jul 1986)
Previous versions | rss
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Protein

Low-density lipoprotein receptor

Gene

LDLR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.2 Publications
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.2 Publications
(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.1 Publication
(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHost cell receptor for virus entry, Receptor
Biological processCholesterol metabolism, Endocytosis, Host-virus interaction, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P01130

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis
R-HSA-8964026, Chylomicron clearance
R-HSA-8964038, LDL clearance
R-HSA-975634, Retinoid metabolism and transport

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01130

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Low-density lipoprotein receptor
Short name:
LDL receptor
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LDLR
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000130164.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:6547, LDLR

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606945, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01130

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 788ExtracellularBy similarityAdd BLAST767
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei789 – 810HelicalSequence analysisAdd BLAST22
Topological domaini811 – 860Cytoplasmic1 PublicationAdd BLAST50

Keywords - Cellular componenti

Cell membrane, Coated pit, Endosome, Golgi apparatus, LDL, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypercholesterolemia, familial, 1 (FHCL1)52 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00530427C → W in FHCL1; San Francisco. 1 PublicationCorresponds to variant dbSNP:rs2228671Ensembl.1
Natural variantiVAR_01394946C → S in FHCL1; Japanese patient. 1 PublicationCorresponds to variant dbSNP:rs121908041EnsemblClinVar.1
Natural variantiVAR_00530547 – 48Missing in FHCL1; Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface. 2 Publications2
Natural variantiVAR_00797950A → S in FHCL1; German patient. 1 PublicationCorresponds to variant dbSNP:rs137853960EnsemblClinVar.1
Natural variantiVAR_07282750A → T in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137853960EnsemblClinVar.1
Natural variantiVAR_00798056S → P in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs878854026EnsemblClinVar.1
Natural variantiVAR_00530778R → C in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs370860696EnsemblClinVar.1
Natural variantiVAR_00530887W → G in FHCL1; French Canadian-4. 3 PublicationsCorresponds to variant dbSNP:rs121908025EnsemblClinVar.1
Natural variantiVAR_00530989C → Y in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs875989894EnsemblClinVar.1
Natural variantiVAR_00531090D → G in FHCL1; London-4. 1 PublicationCorresponds to variant dbSNP:rs771019366EnsemblClinVar.1
Natural variantiVAR_00531190D → N in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs749038326EnsemblClinVar.1
Natural variantiVAR_00531290D → Y in FHCL1; Durban-1. 1 PublicationCorresponds to variant dbSNP:rs749038326EnsemblClinVar.1
Natural variantiVAR_00531392Q → E in FHCL1; Spanish patient. 1 PublicationCorresponds to variant dbSNP:rs774467219EnsemblClinVar.1
Natural variantiVAR_00531495C → G in FHCL1; Spanish patient. 1 PublicationCorresponds to variant dbSNP:rs879254456EnsemblClinVar.1
Natural variantiVAR_005315101E → K in FHCL1; Lancashire; 6% of American English. 2 PublicationsCorresponds to variant dbSNP:rs144172724EnsemblClinVar.1
Natural variantiVAR_005317116C → R in FHCL1; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 PublicationsCorresponds to variant dbSNP:rs879254482EnsemblClinVar.1
Natural variantiVAR_062371134C → F in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254514EnsemblClinVar.1
Natural variantiVAR_062372134C → W in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254515EnsemblClinVar.1
Natural variantiVAR_005318140E → K in FHCL1; Philippines/Durban-2/Japan. 3 PublicationsCorresponds to variant dbSNP:rs748944640Ensembl.1
Natural variantiVAR_072828143C → R in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs875989901EnsemblClinVar.1
Natural variantiVAR_072829148C → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254526EnsemblClinVar.1
Natural variantiVAR_072830155C → Y in FHCL1; results in defective LDL binding; does not affect receptor expression at the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs879254536EnsemblClinVar.1
Natural variantiVAR_005320160C → Y in FHCL1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs879254541Ensembl.1
Natural variantiVAR_072831168D → A in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254549Ensembl.1
Natural variantiVAR_005321168D → H in FHCL1; Sephardic/Safed; 10% of the Sephardic Jews. 1 PublicationCorresponds to variant dbSNP:rs200727689EnsemblClinVar.1
Natural variantiVAR_005322168D → N in FHCL1; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 PublicationsCorresponds to variant dbSNP:rs200727689EnsemblClinVar.1
Natural variantiVAR_005323168D → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs200727689EnsemblClinVar.1
Natural variantiVAR_072832172D → N in FHCL1; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 PublicationsCorresponds to variant dbSNP:rs879254554EnsemblClinVar.1
Natural variantiVAR_005325173C → W in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs769318035EnsemblClinVar.1
Natural variantiVAR_005326175D → N in FHCL1; Afrikaner-3; 5-10% of Afrikaners. 1 PublicationCorresponds to variant dbSNP:rs121908033EnsemblClinVar.1
Natural variantiVAR_007981175D → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs121908033EnsemblClinVar.1
Natural variantiVAR_005327177S → L in FHCL1; Puerto Rico. 4 PublicationsCorresponds to variant dbSNP:rs121908026Ensembl.1
Natural variantiVAR_072833184C → W in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254571EnsemblClinVar.1
Natural variantiVAR_013951184C → Y in FHCL1; Glasco. 2 PublicationsCorresponds to variant dbSNP:rs121908039Ensembl.1
Natural variantiVAR_005330197C → R in FHCL1; British patient. 1 PublicationCorresponds to variant dbSNP:rs730882085EnsemblClinVar.1
Natural variantiVAR_072834211H → L in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254603EnsemblClinVar.1
Natural variantiVAR_005331218Missing in FHCL1; Piscataway/Lithuania. 3 Publications1
Natural variantiVAR_005332221D → G in FHCL1; Padova. 6 PublicationsCorresponds to variant dbSNP:rs373822756Ensembl.1
Natural variantiVAR_007982221D → N in FHCL1; German patient. 2 PublicationsCorresponds to variant dbSNP:rs875989906EnsemblClinVar.1
Natural variantiVAR_005333221D → Y in FHCL1; Cologne patient. 2 PublicationsCorresponds to variant dbSNP:rs875989906EnsemblClinVar.1
Natural variantiVAR_062373222C → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs730882086EnsemblClinVar.1
Natural variantiVAR_005336224D → V in FHCL1; Cologne patient. 1 PublicationCorresponds to variant dbSNP:rs879254630EnsemblClinVar.1
Natural variantiVAR_005338227D → E in FHCL1; Afrikaner-1/Maine; 65-70% of Afrikaner Americans. 2 PublicationsCorresponds to variant dbSNP:rs121908028EnsemblClinVar.1
Natural variantiVAR_005341228E → K in FHCL1; French Canadian-3/Mexico; 2% of French Canadians. 2 PublicationsCorresponds to variant dbSNP:rs121908029Ensembl.1
Natural variantiVAR_005340228E → Q in FHCL1; Tulsa-2. 1 PublicationCorresponds to variant dbSNP:rs121908029Ensembl.1
Natural variantiVAR_005342231C → G in FHCL1; Norwegian patient. 1 PublicationCorresponds to variant dbSNP:rs746091400EnsemblClinVar.1
Natural variantiVAR_072835243C → R in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254659EnsemblClinVar.1
Natural variantiVAR_005345248C → Y in FHCL1; British patient. 1 PublicationCorresponds to variant dbSNP:rs879254663EnsemblClinVar.1
Natural variantiVAR_062374254Q → P in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs879254667EnsemblClinVar.1
Natural variantiVAR_013953261C → F in FHCL1; rare mutation; strongly reduced receptor activity. 1 PublicationCorresponds to variant dbSNP:rs121908040EnsemblClinVar.1
Natural variantiVAR_005347266D → E in FHCL1; Cincinnati-1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139043155EnsemblClinVar.1
Natural variantiVAR_062375276C → R in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254692EnsemblClinVar.1
Natural variantiVAR_072837276C → W in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146651743Ensembl.1
Natural variantiVAR_005349276C → Y in FHCL1; Syrian patient. 1 PublicationCorresponds to variant dbSNP:rs730882089EnsemblClinVar.1
Natural variantiVAR_005350277E → K in FHCL1; patients from Sweden and La Havana; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs148698650Ensembl.1
Natural variantiVAR_072838285H → Y in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882091Ensembl.1
Natural variantiVAR_005351286S → R in FHCL1; Greece-2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs140241383EnsemblClinVar.1
Natural variantiVAR_007983288E → K in FHCL1; German patient. 1 PublicationCorresponds to variant dbSNP:rs368657165EnsemblClinVar.1
Natural variantiVAR_072839300R → G in FHCL1; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 PublicationsCorresponds to variant dbSNP:rs767618089EnsemblClinVar.1
Natural variantiVAR_005352301D → A in FHCL1; Greek patient. 1 PublicationCorresponds to variant dbSNP:rs879254714EnsemblClinVar.1
Natural variantiVAR_072840301D → G in FHCL1; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 3 PublicationsCorresponds to variant dbSNP:rs879254714EnsemblClinVar.1
Natural variantiVAR_005354302C → W in FHCL1; Iraki patient. 1 PublicationCorresponds to variant dbSNP:rs879254716EnsemblClinVar.1
Natural variantiVAR_005353302C → Y in FHCL1; Spanish patient. 1 PublicationCorresponds to variant dbSNP:rs879254715EnsemblClinVar.1
Natural variantiVAR_005357306S → L in FHCL1; Amsterdam; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs11547917EnsemblClinVar.1
Natural variantiVAR_005358313C → Y in FHCL1. 1 PublicationCorresponds to variants dbSNP:rs875989911 and dbSNP:rs875989910EnsemblClinVarEnsembl.1
Natural variantiVAR_072841314G → R in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs72658858EnsemblClinVar.1
Natural variantiVAR_005360318C → F in FHCL1; Trieste. 2 PublicationsCorresponds to variant dbSNP:rs879254739EnsemblClinVar.1
Natural variantiVAR_062376318C → R in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254738EnsemblClinVar.1
Natural variantiVAR_072842326S → C in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254747Ensembl.1
Natural variantiVAR_005361327H → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs747507019EnsemblClinVar.1
Natural variantiVAR_067196329C → F in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs761954844EnsemblClinVar.1
Natural variantiVAR_005362329C → Y in FHCL1; Chinese patient. 1 PublicationCorresponds to variant dbSNP:rs761954844EnsemblClinVar.1
Natural variantiVAR_005364338C → S in FHCL1; Japanese patients. 2 PublicationsCorresponds to variant dbSNP:rs879254753EnsemblClinVar.1
Natural variantiVAR_005366342D → N in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139361635Ensembl.1
Natural variantiVAR_005367343G → S in FHCL1; Picardie; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882096Ensembl.1
Natural variantiVAR_005368350R → P in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs875989914EnsemblClinVar.1
Natural variantiVAR_072843352C → R in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254769EnsemblClinVar.1
Natural variantiVAR_007984356D → Y in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs767767730EnsemblClinVar.1
Natural variantiVAR_062377358C → Y in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs875989915EnsemblClinVar.1
Natural variantiVAR_007985366Q → R in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs746982741EnsemblClinVar.1
Natural variantiVAR_005374368C → R in FHCL1; French Canadian patient. 1 PublicationCorresponds to variant dbSNP:rs879254791EnsemblClinVar.1
Natural variantiVAR_072844368C → Y in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768430352Ensembl.1
Natural variantiVAR_062378370N → T in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254792EnsemblClinVar.1
Natural variantiVAR_072845373G → D in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254797Ensembl.1
Natural variantiVAR_007986379C → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254804EnsemblClinVar.1
Natural variantiVAR_005376399A → D in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs875989918EnsemblClinVar.1
Natural variantiVAR_007987401L → V in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs146200173Ensembl.1
Natural variantiVAR_008995403F → L in FHCL1; Japanese patient. 1 PublicationCorresponds to variant dbSNP:rs879254831EnsemblClinVar.1
Natural variantiVAR_072846404T → P in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254834EnsemblClinVar.1
Natural variantiVAR_072847406R → W in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121908043Ensembl.1
Natural variantiVAR_005378408E → K in FHCL1; Algeria-1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137943601EnsemblClinVar.1
Natural variantiVAR_005379414L → R in FHCL1; Chinese patient. 1 PublicationCorresponds to variant dbSNP:rs748554592EnsemblClinVar.1
Natural variantiVAR_062379415D → G in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254845EnsemblClinVar.1
Natural variantiVAR_005380416R → Q in FHCL1; German patient. 1 PublicationCorresponds to variant dbSNP:rs773658037EnsemblClinVar.1
Natural variantiVAR_005381416R → W in FHCL1; results in reduced receptor expression at the cell surface due to defective receptor recycling. 4 PublicationsCorresponds to variant dbSNP:rs570942190Ensembl.1
Natural variantiVAR_005382423I → T in FHCL1; Swedish patient. 1 PublicationCorresponds to variant dbSNP:rs879254849EnsemblClinVar.1
Natural variantiVAR_005383429V → M in FHCL1; Afrikaner-2; 20-30% of Afrikaners and 2% of FHCL1 Dutch. 5 PublicationsCorresponds to variant dbSNP:rs28942078Ensembl.1
Natural variantiVAR_005384431A → T in FHCL1; Algeria-2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs28942079Ensembl.1
Natural variantiVAR_007988432L → V in FHCL1; German patient. 1 PublicationCorresponds to variant dbSNP:rs730882100EnsemblClinVar.1
Natural variantiVAR_005385433D → H in FHCL1; Osaka-3. 1 PublicationCorresponds to variant dbSNP:rs121908036EnsemblClinVar.1
Natural variantiVAR_005386434T → K in FHCL1; Algeria-3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745343524EnsemblClinVar.1
Natural variantiVAR_072848442Y → H in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254863EnsemblClinVar.1
Natural variantiVAR_062380451I → T in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs879254874Ensembl.1
Natural variantiVAR_072849454T → N in FHCL1; results in reduced receptor expression at the cell surface due to defective receptor recycling. 2 PublicationsCorresponds to variant dbSNP:rs879254879EnsemblClinVar.1
Natural variantiVAR_062381479L → P in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254900EnsemblClinVar.1
Natural variantiVAR_005391482D → H in FHCL1. 2 PublicationsCorresponds to variant dbSNP:rs139624145EnsemblClinVar.1
Natural variantiVAR_005392483W → R in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879254905EnsemblClinVar.1
Natural variantiVAR_005393487Missing in FHCL1; Norwegian patient. 1 Publication1
Natural variantiVAR_072850492D → N in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373646964Ensembl.1
Natural variantiVAR_005395523V → M in FHCL1; Kuwait. 1 PublicationCorresponds to variant dbSNP:rs28942080Ensembl.1
Natural variantiVAR_005396526P → S in FHCL1; Cincinnati-3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882106EnsemblClinVar.1
Natural variantiVAR_005398549G → D in FHCL1; Genoa. 2 PublicationsCorresponds to variant dbSNP:rs28941776Ensembl.1
Natural variantiVAR_005399564N → H in FHCL1. 5 PublicationsCorresponds to variant dbSNP:rs397509365Ensembl.1
Natural variantiVAR_005400564N → S in FHCL1; Sicily. 1 PublicationCorresponds to variant dbSNP:rs758194385EnsemblClinVar.1
Natural variantiVAR_008996568L → V in FHCL1; Japanese patient. 1 PublicationCorresponds to variant dbSNP:rs746959386EnsemblClinVar.1
Natural variantiVAR_072851574R → C in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs185098634EnsemblClinVar.1
Natural variantiVAR_072852574R → H in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777188764Ensembl.1
Natural variantiVAR_072853577W → G in FHCL1; results in loss of receptor expression at the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs879255000EnsemblClinVar.1
Natural variantiVAR_072854577W → S in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138947766EnsemblClinVar.1
Natural variantiVAR_005402579D → N in FHCL1; Cincinnati-4; less than 2% receptor activity. 2 PublicationsCorresponds to variant dbSNP:rs875989929EnsemblClinVar.1
Natural variantiVAR_062382579D → Y in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs875989929EnsemblClinVar.1
Natural variantiVAR_072855585I → T in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255012EnsemblClinVar.1
Natural variantiVAR_005403592G → E in FHCL1; Sicily. 1 PublicationCorresponds to variant dbSNP:rs137929307Ensembl.1
Natural variantiVAR_072856595R → W in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373371572Ensembl.1
Natural variantiVAR_072857601D → H in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753707206Ensembl.1
Natural variantiVAR_007989608P → S in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879255034EnsemblClinVar.1
Natural variantiVAR_005405633R → C in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs746118995Ensembl.1
Natural variantiVAR_072858639V → D in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs794728584EnsemblClinVar.1
Natural variantiVAR_005406649P → L in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879255081EnsemblClinVar.1
Natural variantiVAR_005407667C → Y in FHCL1; French Canadian-2; 5% of French Canadians. 2 PublicationsCorresponds to variant dbSNP:rs28942083EnsemblClinVar.1
Natural variantiVAR_005408677C → R in FHCL1; New York-3. 1 PublicationCorresponds to variant dbSNP:rs775092314EnsemblClinVar.1
Natural variantiVAR_005410685P → L in FHCL1; Gujerat/Zambia/Belgian/Dutch/Sweden/Japan. 7 PublicationsCorresponds to variant dbSNP:rs28942084Ensembl.1
Natural variantiVAR_013955699P → L in FHCL1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs201573863Ensembl.1
Natural variantiVAR_005412700D → E in FHCL1; Spanish patient. 1 PublicationCorresponds to variant dbSNP:rs759858813EnsemblClinVar.1
Natural variantiVAR_008997714E → K in FHCL1; Japanese patient. 1 PublicationCorresponds to variant dbSNP:rs869320652EnsemblClinVar.1
Natural variantiVAR_005413726T → I in FHCL1; Paris-9; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs45508991Ensembl.1
Natural variantiVAR_005415797V → M in FHCL1; La Havana patient. 2 PublicationsCorresponds to variant dbSNP:rs750518671Ensembl.1
Natural variantiVAR_005416799 – 801Missing in FHCL1; Danish patient. 1 Publication3
Natural variantiVAR_072860806V → D in FHCL1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255208EnsemblClinVar.1
Natural variantiVAR_011864814R → Q in FHCL1; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs5928Ensembl.1
Natural variantiVAR_005417820 – 822Missing in FHCL1. 3
Natural variantiVAR_072861825N → K in FHCL1; does not affect receptor expression at the cell surface; does not affect LDL binding; results in impaired LDL uptake and internalization. 2 PublicationsCorresponds to variant dbSNP:rs374045590EnsemblClinVar.1
Natural variantiVAR_062383826P → S in FHCL1. 1 PublicationCorresponds to variant dbSNP:rs879255217EnsemblClinVar.1
Natural variantiVAR_005419828Y → C in FHCL1; J.D.Bari/Syria; 2-fold decreased affinity for LDLRAP1. 2 PublicationsCorresponds to variant dbSNP:rs28942085Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi811K → R: No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839. 1 Publication1
Mutagenesisi816K → R: No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839. 1 Publication1
Mutagenesisi821I → A: 3-fold decreased affinity for LDLRAP1. 1 Publication1
Mutagenesisi821I → R: 10-fold decreased affinity for LDLRAP1. 1 Publication1
Mutagenesisi828Y → A: Abolishes interaction with ARRB2. 1 Publication1
Mutagenesisi829Q → A: Decreased affinity for LDLRAP1. 1 Publication1
Mutagenesisi830K → R: No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839. 1 Publication1
Mutagenesisi839C → A: No change. Insensitive to MYLIP-triggered degradation; when associated with R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and R-830. 1 Publication1
Mutagenesisi854S → A: No effect on receptor internalization. 1 Publication1
Mutagenesisi854S → D: Enhances interaction with ARRB2 and receptor internalization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3949

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		LDLR

MalaCards human disease database

More...MalaCardsi		LDLR
MIMi143890, phenotype

Open Targets

More...OpenTargetsi		ENSG00000130164

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		391665, Homozygous familial hypercholesterolemia
406, NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA227

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P01130, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3311

Drug and drug target database

More...DrugBanki		DB14003, alpha-Tocopherol acetate
DB00707, Porfimer sodium
DB11251, Tocopherol
DB09270, Ubidecarenone

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LDLR

Domain mapping of disease mutations (DMDM)

More...DMDMi		126073

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21By similarityAdd BLAST21
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001731222 – 860Low-density lipoprotein receptorAdd BLAST839

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi27 ↔ 39
Disulfide bondi34 ↔ 52
Disulfide bondi46 ↔ 63
Disulfide bondi68 ↔ 82
Disulfide bondi75 ↔ 95
Disulfide bondi89 ↔ 104
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi109 ↔ 121By similarity
Disulfide bondi116 ↔ 134
Disulfide bondi128 ↔ 143
Disulfide bondi148 ↔ 160
Disulfide bondi155 ↔ 173
Glycosylationi156N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi167 ↔ 184
Disulfide bondi197 ↔ 209
Disulfide bondi204 ↔ 222
Disulfide bondi216 ↔ 231
Disulfide bondi236 ↔ 248
Disulfide bondi243 ↔ 261
Disulfide bondi255 ↔ 270
Glycosylationi272N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi276 ↔ 289
Disulfide bondi284 ↔ 302
Disulfide bondi296 ↔ 313
Disulfide bondi318 ↔ 329
Disulfide bondi325 ↔ 338
Disulfide bondi340 ↔ 352
Disulfide bondi358 ↔ 368
Disulfide bondi364 ↔ 377
Disulfide bondi379 ↔ 392
Glycosylationi515N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi657N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi667 ↔ 681
Disulfide bondi677 ↔ 696
Disulfide bondi698 ↔ 711
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei724PhosphothreonineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N- and O-glycosylated.5 Publications
Ubiquitinated by MYLIP leading to degradation.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P01130

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P01130

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P01130

MaxQB - The MaxQuant DataBase

More...MaxQBi		P01130

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P01130

PeptideAtlas

More...PeptideAtlasi		P01130

PRoteomics IDEntifications database

More...PRIDEi		P01130

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		40062
40658
51326 [P01130-1]
51327 [P01130-2]
51328 [P01130-3]
51329 [P01130-4]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		343, 10 N-Linked glycans (4 sites), 4 O-Linked glycans

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P01130, 9 sites, 2 O-linked glycans (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01130

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P01130

UniCarbKB; an annotated and curated database of glycan structures

More...UniCarbKBi		P01130

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130164, Expressed in adrenal tissue and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P01130, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01130, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130164, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity).

Interacts (via NPXY motif) with LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010).

Interacts with ARRB1 (PubMed:12944399).

Interacts with SNX17 (PubMed:14739284).

Interacts with the full-length immature form of PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300).

By similarity6 Publications

(Microbial infection) Interacts with C.difficile toxin TcdA, suggesting that it may contribute to TcdA toxin entry into cells.

1 Publication

(Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.

1 Publication

(Microbial infection) May interact with HIV-1 Tat.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110141, 53 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-128, LDLR-PCSK9 complex

Database of interacting proteins

More...DIPi		DIP-29695N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P01130

Protein interaction database and analysis system

More...IntActi		P01130, 47 interactors

Molecular INTeraction database

More...MINTi		P01130

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000454071

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P01130

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P01130, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1860
Legend: HelixTurnBeta strandPDB Structure known for this area
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