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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-Experimental evidence at protein leveli

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 (PubMed:10535997, PubMed:12615904). Acts as a receptor for vesicular stomatitis virus (PubMed:23589850). In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells (PubMed:11100124).4 Publications

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • clathrin heavy chain binding Source: BHF-UCL
  • glycoprotein binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • low-density lipoprotein particle binding Source: Ensembl
  • low-density lipoprotein receptor activity Source: BHF-UCL
  • protease binding Source: BHF-UCL
  • receptor activity Source: BHF-UCL
  • very-low-density lipoprotein particle receptor activity Source: BHF-UCL
  • virus receptor activity Source: UniProtKB-KW

GO - Biological processi

  • cellular response to fatty acid Source: Ensembl
  • cholesterol homeostasis Source: BHF-UCL
  • cholesterol import Source: BHF-UCL
  • cholesterol metabolic process Source: UniProtKB-KW
  • cholesterol transport Source: HGNC
  • endocytosis Source: ProtInc
  • intestinal cholesterol absorption Source: HGNC
  • lipid metabolic process Source: ProtInc
  • lipoprotein catabolic process Source: Ensembl
  • low-density lipoprotein particle clearance Source: BHF-UCL
  • negative regulation of gene expression Source: Ensembl
  • phospholipid transport Source: BHF-UCL
  • positive regulation of gene expression Source: Ensembl
  • positive regulation of inflammatory response Source: Ensembl
  • positive regulation of triglyceride biosynthetic process Source: BHF-UCL
  • receptor-mediated endocytosis Source: Reactome
  • regulation of cholesterol homeostasis Source: Ensembl
  • regulation of phosphatidylcholine catabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Host cell receptor for virus entry, Receptor

Keywords - Biological processi

Cholesterol metabolism, Endocytosis, Host-virus interaction, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130164-MONOMER.
ReactomeiR-HSA-171052. LDL-mediated lipid transport.
R-HSA-174800. Chylomicron-mediated lipid transport.
R-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.
R-HSA-975634. Retinoid metabolism and transport.
SIGNORiP01130.

Names & Taxonomyi

Protein namesi
Recommended name:
Low-density lipoprotein receptor
Short name:
LDL receptor
Gene namesi
Name:LDLR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6547. LDLR.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 788ExtracellularBy similarityAdd BLAST767
Transmembranei789 – 810HelicalSequence analysisAdd BLAST22
Topological domaini811 – 860Cytoplasmic1 PublicationAdd BLAST50

GO - Cellular componenti

  • apical part of cell Source: BHF-UCL
  • basolateral plasma membrane Source: BHF-UCL
  • cell surface Source: UniProtKB
  • clathrin-coated endocytic vesicle membrane Source: Reactome
  • clathrin-coated pit Source: BHF-UCL
  • early endosome Source: UniProtKB
  • endosome membrane Source: Reactome
  • external side of plasma membrane Source: BHF-UCL
  • Golgi apparatus Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • late endosome Source: UniProtKB
  • low-density lipoprotein particle Source: UniProtKB-KW
  • lysosome Source: UniProtKB
  • membrane Source: UniProtKB
  • PCSK9-LDLR complex Source: BHF-UCL
  • plasma membrane Source: Reactome
  • receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Familial hypercholesterolemia (FH)49 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCommon autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).
See also OMIM:143890
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00530427C → W in FH; San Francisco. 1 PublicationCorresponds to variant rs2228671dbSNPEnsembl.1
Natural variantiVAR_01394946C → S in FH; Japanese patient. 1 PublicationCorresponds to variant rs121908041dbSNPEnsembl.1
Natural variantiVAR_00530547 – 48Missing in FH; Cape Town-1; retards receptor transport from the endoplasmic reticulum to the cell surface. 2 Publications2
Natural variantiVAR_00797950A → S in FH; German patient. 1 PublicationCorresponds to variant rs137853960dbSNPEnsembl.1
Natural variantiVAR_07282750A → T in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs137853960dbSNPEnsembl.1
Natural variantiVAR_00798056S → P in FH. 1 Publication1
Natural variantiVAR_00530778R → C in FH. 1 PublicationCorresponds to variant rs370860696dbSNPEnsembl.1
Natural variantiVAR_00530887W → G in FH; French Canadian-4. 3 PublicationsCorresponds to variant rs121908025dbSNPEnsembl.1
Natural variantiVAR_00530989C → Y in FH. 2 Publications1
Natural variantiVAR_00531090D → G in FH; London-4. 1 PublicationCorresponds to variant rs771019366dbSNPEnsembl.1
Natural variantiVAR_00531190D → N in FH. 1 PublicationCorresponds to variant rs749038326dbSNPEnsembl.1
Natural variantiVAR_00531290D → Y in FH; Durban-1. 1 Publication1
Natural variantiVAR_00531392Q → E in FH; Spanish patient. 1 PublicationCorresponds to variant rs774467219dbSNPEnsembl.1
Natural variantiVAR_00531495C → G in FH; Spanish patient. 1 Publication1
Natural variantiVAR_005315101E → K in FH; Lancashire; 6% of American English. 2 PublicationsCorresponds to variant rs144172724dbSNPEnsembl.1
Natural variantiVAR_005317116C → R in FH; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 Publications1
Natural variantiVAR_062371134C → F in FH. 1 Publication1
Natural variantiVAR_062372134C → W in FH. 1 Publication1
Natural variantiVAR_005318140E → K in FH; Philippines/Durban-2/Japan. 3 Publications1
Natural variantiVAR_072828143C → R in FH. 1 Publication1
Natural variantiVAR_072829148C → Y in FH. 1 Publication1
Natural variantiVAR_072830155C → Y in FH; results in defective LDL binding; does not affect receptor expression at the cell surface. 2 Publications1
Natural variantiVAR_005320160C → Y in FH; unknown pathological significance. 2 Publications1
Natural variantiVAR_072831168D → A in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005321168D → H in FH; Sephardic/Safed; 10% of the Sephardic Jews. 1 Publication1
Natural variantiVAR_005322168D → N in FH; 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 rs200727689dbSNPEnsembl.1
Natural variantiVAR_005323168D → Y in FH. 1 Publication1
Natural variantiVAR_072832172D → N in FH; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 2 Publications1
Natural variantiVAR_005325173C → W in FH. 1 Publication1
Natural variantiVAR_005326175D → N in FH; Afrikaner-3; 5-10% of Afrikaners. 1 PublicationCorresponds to variant rs121908033dbSNPEnsembl.1
Natural variantiVAR_007981175D → Y in FH. 1 Publication1
Natural variantiVAR_005327177S → L in FH; Puerto Rico. 4 PublicationsCorresponds to variant rs121908026dbSNPEnsembl.1
Natural variantiVAR_072833184C → W in FH. 1 Publication1
Natural variantiVAR_013951184C → Y in FH; Glasco. 2 PublicationsCorresponds to variant rs121908039dbSNPEnsembl.1
Natural variantiVAR_005330197C → R in FH; British patient. 1 PublicationCorresponds to variant rs730882085dbSNPEnsembl.1
Natural variantiVAR_072834211H → L in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005331218Missing in FH; Piscataway/Lithuania. 3 Publications1
Natural variantiVAR_005332221D → G in FH; Padova. 6 PublicationsCorresponds to variant rs373822756dbSNPEnsembl.1
Natural variantiVAR_007982221D → N in FH; German patient. 2 Publications1
Natural variantiVAR_005333221D → Y in FH; Cologne patient. 2 Publications1
Natural variantiVAR_062373222C → Y in FH. 1 PublicationCorresponds to variant rs730882086dbSNPEnsembl.1
Natural variantiVAR_005336224D → V in FH; Cologne patient. 1 Publication1
Natural variantiVAR_005338227D → E in FH; Afrikaner-1/Maine; 65-70% of Afrikaner Americans. 2 PublicationsCorresponds to variant rs121908028dbSNPEnsembl.1
Natural variantiVAR_005341228E → K in FH; French Canadian-3/Mexico; 2% of French Canadians. 2 PublicationsCorresponds to variant rs121908029dbSNPEnsembl.1
Natural variantiVAR_005340228E → Q in FH; Tulsa-2; unknown pathological significance. 1 PublicationCorresponds to variant rs121908029dbSNPEnsembl.1
Natural variantiVAR_005342231C → G in FH; Norwegian patient. 1 PublicationCorresponds to variant rs746091400dbSNPEnsembl.1
Natural variantiVAR_072835243C → R in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005345248C → Y in FH; British patient. 1 Publication1
Natural variantiVAR_062374254Q → P in FH. 2 Publications1
Natural variantiVAR_013953261C → F in FH; rare mutation; strongly reduced receptor activity. 1 PublicationCorresponds to variant rs121908040dbSNPEnsembl.1
Natural variantiVAR_005347266D → E in FH; Cincinnati-1; unknown pathological significance. 1 PublicationCorresponds to variant rs139043155dbSNPEnsembl.1
Natural variantiVAR_062375276C → R in FH. 1 Publication1
Natural variantiVAR_072837276C → W in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005349276C → Y in FH; Syrian patient. 1 PublicationCorresponds to variant rs730882089dbSNPEnsembl.1
Natural variantiVAR_005350277E → K in FH; patients from Sweden and La Havana; unknown pathological significance. 4 PublicationsCorresponds to variant rs148698650dbSNPEnsembl.1
Natural variantiVAR_072838285H → Y in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs730882091dbSNPEnsembl.1
Natural variantiVAR_005351286S → R in FH; Greece-2; unknown pathological significance. 2 PublicationsCorresponds to variant rs140241383dbSNPEnsembl.1
Natural variantiVAR_007983288E → K in FH; German patient. 1 PublicationCorresponds to variant rs368657165dbSNPEnsembl.1
Natural variantiVAR_072839300R → G in FH; 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 rs767618089dbSNPEnsembl.1
Natural variantiVAR_005352301D → A in FH; Greek patient. 1 Publication1
Natural variantiVAR_072840301D → G in FH; does not affect receptor expression at the cell surface; results in reduced LDL binding; results in reduced LDL uptake and internalization. 3 Publications1
Natural variantiVAR_005354302C → W in FH; Iraki patient. 1 Publication1
Natural variantiVAR_005353302C → Y in FH; Spanish patient. 1 Publication1
Natural variantiVAR_005357306S → L in FH; Amsterdam; unknown pathological significance. 1 PublicationCorresponds to variant rs11547917dbSNPEnsembl.1
Natural variantiVAR_005358313C → Y in FH. 1 Publication1
Natural variantiVAR_072841314G → R in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs72658858dbSNPEnsembl.1
Natural variantiVAR_005360318C → F in FH; Trieste. 2 Publications1
Natural variantiVAR_062376318C → R in FH. 1 Publication1
Natural variantiVAR_072842326S → C in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005361327H → Y in FH. 1 PublicationCorresponds to variant rs747507019dbSNPEnsembl.1
Natural variantiVAR_067196329C → F in FH. 1 Publication1
Natural variantiVAR_005362329C → Y in FH; Chinese patient. 1 PublicationCorresponds to variant rs761954844dbSNPEnsembl.1
Natural variantiVAR_005364338C → S in FH; Japanese patients. 2 Publications1
Natural variantiVAR_005366342D → N in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs139361635dbSNPEnsembl.1
Natural variantiVAR_005367343G → S in FH; Picardie; unknown pathological significance. 1 PublicationCorresponds to variant rs730882096dbSNPEnsembl.1
Natural variantiVAR_005368350R → P in FH. 2 Publications1
Natural variantiVAR_072843352C → R in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_007984356D → Y in FH. 2 Publications1
Natural variantiVAR_062377358C → Y in FH. 2 Publications1
Natural variantiVAR_007985366Q → R in FH. 1 PublicationCorresponds to variant rs746982741dbSNPEnsembl.1
Natural variantiVAR_005374368C → R in FH; French Canadian patient. 1 Publication1
Natural variantiVAR_072844368C → Y in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs768430352dbSNPEnsembl.1
Natural variantiVAR_062378370N → T in FH. 1 Publication1
Natural variantiVAR_072845373G → D in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_007986379C → Y in FH. 1 Publication1
Natural variantiVAR_005376399A → D in FH. 1 Publication1
Natural variantiVAR_007987401L → V in FH. 1 PublicationCorresponds to variant rs146200173dbSNPEnsembl.1
Natural variantiVAR_008995403F → L in FH; Japanese patient. 1 Publication1
Natural variantiVAR_072846404T → P in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_072847406R → W in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs121908043dbSNPEnsembl.1
Natural variantiVAR_005378408E → K in FH; Algeria-1; unknown pathological significance. 2 PublicationsCorresponds to variant rs137943601dbSNPEnsembl.1
Natural variantiVAR_005379414L → R in FH; Chinese patient. 1 PublicationCorresponds to variant rs748554592dbSNPEnsembl.1
Natural variantiVAR_062379415D → G in FH. 1 Publication1
Natural variantiVAR_005380416R → Q in FH; German patient. 1 PublicationCorresponds to variant rs773658037dbSNPEnsembl.1
Natural variantiVAR_005381416R → W in FH; results in reduced receptor expression at the cell surface due to defective receptor recycling. 4 PublicationsCorresponds to variant rs570942190dbSNPEnsembl.1
Natural variantiVAR_005382423I → T in FH; Swedish patient. 1 Publication1
Natural variantiVAR_005383429V → M in FH; Afrikaner-2; 20-30% of Afrikaners and 2% of FH Dutch. 5 PublicationsCorresponds to variant rs28942078dbSNPEnsembl.1
Natural variantiVAR_005384431A → T in FH; Algeria-2; unknown pathological significance. 2 PublicationsCorresponds to variant rs28942079dbSNPEnsembl.1
Natural variantiVAR_007988432L → V in FH; German patient. 1 PublicationCorresponds to variant rs730882100dbSNPEnsembl.1
Natural variantiVAR_005385433D → H in FH; Osaka-3. 1 PublicationCorresponds to variant rs121908036dbSNPEnsembl.1
Natural variantiVAR_005386434T → K in FH; Algeria-3; unknown pathological significance. 1 Publication1
Natural variantiVAR_072848442Y → H in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_062380451I → T in FH. 2 Publications1
Natural variantiVAR_072849454T → N in FH; results in reduced receptor expression at the cell surface due to defective receptor recycling. 2 Publications1
Natural variantiVAR_062381479L → P in FH. 1 Publication1
Natural variantiVAR_005391482D → H in FH. 2 Publications1
Natural variantiVAR_005392483W → R in FH. 1 Publication1
Natural variantiVAR_005393487Missing in FH; Norwegian patient. 1 Publication1
Natural variantiVAR_072850492D → N in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs373646964dbSNPEnsembl.1
Natural variantiVAR_005395523V → M in FH; Kuwait. 1 PublicationCorresponds to variant rs28942080dbSNPEnsembl.1
Natural variantiVAR_005396526P → S in FH; Cincinnati-3; unknown pathological significance. 1 PublicationCorresponds to variant rs730882106dbSNPEnsembl.1
Natural variantiVAR_005398549G → D in FH; Genoa. 2 PublicationsCorresponds to variant rs28941776dbSNPEnsembl.1
Natural variantiVAR_005399564N → H in FH; French, German and Danish patients. 5 PublicationsCorresponds to variant rs28942086dbSNPEnsembl.1
Natural variantiVAR_005400564N → S in FH; Sicily. 1 PublicationCorresponds to variant rs758194385dbSNPEnsembl.1
Natural variantiVAR_008996568L → V in FH; Japanese patient. 1 Publication1
Natural variantiVAR_072851574R → C in FH. 1 PublicationCorresponds to variant rs185098634dbSNPEnsembl.1
Natural variantiVAR_072852574R → H in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs777188764dbSNPEnsembl.1
Natural variantiVAR_072853577W → G in FH; results in loss of receptor expression at the cell surface. 2 Publications1
Natural variantiVAR_072854577W → S in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs138947766dbSNPEnsembl.1
Natural variantiVAR_005402579D → N in FH; Cincinnati-4; less than 2% receptor activity. 2 Publications1
Natural variantiVAR_062382579D → Y in FH. 1 Publication1
Natural variantiVAR_072855585I → T in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_005403592G → E in FH; Sicily. 1 PublicationCorresponds to variant rs137929307dbSNPEnsembl.1
Natural variantiVAR_072856595R → W in FH; unknown pathological significance. 1 PublicationCorresponds to variant rs373371572dbSNPEnsembl.1
Natural variantiVAR_072857601D → H in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_007989608P → S in FH. 1 Publication1
Natural variantiVAR_005405633R → C in FH. 1 PublicationCorresponds to variant rs746118995dbSNPEnsembl.1
Natural variantiVAR_072858639V → D in FH. 1 PublicationCorresponds to variant rs794728584dbSNPEnsembl.1
Natural variantiVAR_005406649P → L in FH. 1 Publication1
Natural variantiVAR_005407667C → Y in FH; French Canadian-2; 5% of French Canadians. 2 PublicationsCorresponds to variant rs28942083dbSNPEnsembl.1
Natural variantiVAR_005408677C → R in FH; New York-3. 1 PublicationCorresponds to variant rs775092314dbSNPEnsembl.1
Natural variantiVAR_005410685P → L in FH; Gujerat/Zambia/Belgian/Dutch/Sweden/Japan. 7 PublicationsCorresponds to variant rs28942084dbSNPEnsembl.1
Natural variantiVAR_013955699P → L in FH; unknown pathological significance. 2 PublicationsCorresponds to variant rs201573863dbSNPEnsembl.1
Natural variantiVAR_005412700D → E in FH; Spanish patient. 1 Publication1
Natural variantiVAR_008997714E → K in FH; Japanese patient. 1 Publication1
Natural variantiVAR_005413726T → I in FH; Paris-9; unknown pathological significance. 2 PublicationsCorresponds to variant rs45508991dbSNPEnsembl.1
Natural variantiVAR_005415797V → M in FH; La Havana patient. 2 PublicationsCorresponds to variant rs750518671dbSNPEnsembl.1
Natural variantiVAR_005416799 – 801Missing in FH; Danish patient. 1 Publication3
Natural variantiVAR_072860806V → D in FH; unknown pathological significance. 1 Publication1
Natural variantiVAR_011864814R → Q in FH; unknown pathological significance. 3 PublicationsCorresponds to variant rs5928dbSNPEnsembl.1
Natural variantiVAR_005417820 – 822Missing in FH. 3
Natural variantiVAR_072861825N → K in FH; 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 rs374045590dbSNPEnsembl.1
Natural variantiVAR_062383826P → S in FH. 1 Publication1
Natural variantiVAR_005419828Y → C in FH; J.D.Bari/Syria; 2-fold decreased affinity for LDLRAP1. 2 PublicationsCorresponds to variant rs28942085dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi3949.
MalaCardsiLDLR.
MIMi143890. phenotype.
OpenTargetsiENSG00000130164.
Orphaneti406. Heterozygous familial hypercholesterolemia.
391665. Homozygous familial hypercholesterolemia.
PharmGKBiPA227.

Chemistry databases

ChEMBLiCHEMBL3311.
DrugBankiDB00707. Porfimer.

Polymorphism and mutation databases

BioMutaiLDLR.
DMDMi126073.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21By similarityAdd BLAST21
ChainiPRO_000001731222 – 860Low-density lipoprotein receptorAdd BLAST839

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 39
Disulfide bondi34 ↔ 52
Disulfide bondi46 ↔ 63
Disulfide bondi68 ↔ 82
Disulfide bondi75 ↔ 95
Disulfide bondi89 ↔ 104
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi109 ↔ 121By similarity
Disulfide bondi116 ↔ 134
Disulfide bondi128 ↔ 143
Disulfide bondi148 ↔ 160
Disulfide bondi155 ↔ 173
Glycosylationi156N-linked (GlcNAc...)1 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...)1 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...)Sequence analysis1
Glycosylationi657N-linked (GlcNAc...)3 Publications1
Disulfide bondi667 ↔ 681
Disulfide bondi677 ↔ 696
Disulfide bondi698 ↔ 711
Modified residuei724PhosphothreonineBy similarity1

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

EPDiP01130.
MaxQBiP01130.
PaxDbiP01130.
PeptideAtlasiP01130.
PRIDEiP01130.

PTM databases

iPTMnetiP01130.
PhosphoSitePlusiP01130.
UniCarbKBiP01130.

Expressioni

Gene expression databases

BgeeiENSG00000130164.
CleanExiHS_LDLR.
ExpressionAtlasiP01130. baseline and differential.
GenevisibleiP01130. HS.

Organism-specific databases

HPAiHPA009647.
HPA013159.

Interactioni

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 vesicular stomatitis virus glycoprotein.1 Publication
(Microbial infection) May interact with HIV-1 Tat.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-988319,EBI-988319
APOBP041144EBI-988319,EBI-3926040
APOEP026492EBI-988319,EBI-1222467
PCSK9Q8NBP710EBI-988319,EBI-7539251

GO - Molecular functioni

  • clathrin heavy chain binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • protease binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110141. 36 interactors.
DIPiDIP-29695N.
IntActiP01130. 14 interactors.
MINTiMINT-3003796.
STRINGi9606.ENSP00000454071.

Chemistry databases

BindingDBiP01130.

Structurei

Secondary structure

1860
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi29 – 33Combined sources5
Beta strandi35 – 37Combined sources3
Beta strandi39 – 41Combined sources3
Turni42 – 46Combined sources5
Beta strandi47 – 49Combined sources3
Beta strandi51 – 55Combined sources5
Helixi56 – 58Combined sources3
Turni60 – 62Combined sources3
Turni63 – 67Combined sources5
Beta strandi70 – 72Combined sources3
Beta strandi75 – 77Combined sources3
Beta strandi79 – 81Combined sources3
Helixi85 – 87Combined sources3
Beta strandi88 – 90Combined sources3
Beta strandi95 – 97Combined sources3
Turni99 – 103Combined sources5
Beta strandi113 – 115Combined sources3
Beta strandi121 – 123Combined sources3
Helixi124 – 126Combined sources3
Beta strandi129 – 131Combined sources3
Turni138 – 142Combined sources5
Helixi143 – 147Combined sources5
Beta strandi148 – 151Combined sources4
Beta strandi152 – 154Combined sources3
Turni156 – 158Combined sources3
Beta strandi160 – 162Combined sources3
Helixi163 – 165Combined sources3
Beta strandi168 – 170Combined sources3
Beta strandi173 – 176Combined sources4
Helixi177 – 179Combined sources3
Helixi181 – 183Combined sources3
Turni189 – 191Combined sources3
Beta strandi201 – 204Combined sources4
Turni205 – 207Combined sources3
Beta strandi208 – 211Combined sources4
Helixi212 – 214Combined sources3
Beta strandi217 – 219Combined sources3
Beta strandi222 – 224Combined sources3
Helixi226 – 228Combined sources3
Beta strandi241 – 243Combined sources3
Turni244 – 246Combined sources3
Beta strandi247 – 249Combined sources3
Helixi251 – 253Combined sources3
Beta strandi254 – 258Combined sources5
Beta strandi260 – 264Combined sources5
Helixi265 – 267Combined sources3
Beta strandi268 – 270Combined sources3
Beta strandi281 – 283Combined sources3
Beta strandi289 – 292Combined sources4
Turni293 – 296Combined sources4
Beta strandi306 – 308Combined sources3
Turni310 – 312Combined sources3
Helixi317 – 319Combined sources3
Helixi321 – 324Combined sources4
Beta strandi326 – 330Combined sources5
Beta strandi333 – 335Combined sources3
Beta strandi337 – 339Combined sources3
Beta strandi341 – 343Combined sources3
Beta strandi345 – 347Combined sources3
Turni348 – 350Combined sources3
Beta strandi351 – 353Combined sources3
Helixi357 – 359Combined sources3
Beta strandi363 – 369Combined sources7
Beta strandi372 – 374Combined sources3
Beta strandi376 – 378Combined sources3
Beta strandi381 – 385Combined sources5
Turni387 – 389Combined sources3
Beta strandi392 – 394Combined sources