LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP000047

UniProt Annotations

Entry Information
Gene Namelow density lipoprotein receptor
Protein EntryLDLR_HUMAN
UniProt IDP01130
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=P01130-1; Sequence=Displayed; Name=2; IsoId=P01130-2; Sequence=VSP_043053, VSP_043054; Note=No experimental confirmation available.; Name=3; IsoId=P01130-3; Sequence=VSP_055014, VSP_055015; Note=No experimental confirmation available.; Name=4; IsoId=P01130-4; Sequence=VSP_043595; Note=No experimental confirmation available.; Name=5; IsoId=P01130-5; Sequence=VSP_045525; Note=No experimental confirmation available.; Name=6; IsoId=P01130-6; Sequence=VSP_047413; Note=No experimental confirmation available.;
DiseaseFamilial hypercholesterolemia (FH) [MIM
DomainThe NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization.
FunctionBinds 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. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
InteractionP04114:APOB; NbExp=4; IntAct=EBI-988319, EBI-3926040; P02649:APOE; NbExp=2; IntAct=EBI-988319, EBI-1222467; Q8NBP7:PCSK9; NbExp=9; IntAct=EBI-988319, EBI-7539251;
PtmN- and O-glycosylated. {ECO
PtmUbiquitinated by MYLIP leading to degradation.
Sequence CautionSequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
SimilarityBelongs to the LDLR family.
SimilarityContains 3 EGF-like domains. {ECO
SimilarityContains 6 LDL-receptor class B repeats.
SimilarityContains 7 LDL-receptor class A domains.
Subcellular LocationCell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome. Late endosome. Cell surface. Lysosome. Note=Found distributed from the plasma membrane to intracellular compartments. Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9.
SubunitInteracts with LDLRAP1, ARRB1, SNX17. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts with the full length immature form of PCSK9 (via C-terminus). Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat. {ECO
Web ResourceName=LDLR; Note=LDLR mutation database; URL="http://www.ucl.ac.uk/fh/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR";