LIPID MAPS

Gene/Proteome Database (LMPD)

LMPD ID

LMP000047

Gene ID

3949

Species

Homo sapiens (Human)

Gene Name

low density lipoprotein receptor

Gene Symbol

LDLR

Synonyms

FH; FHC; LDLCQ2

Alternate Names

low-density lipoprotein receptor; LDL receptor; low-density lipoprotein receptor class A domain-containing protein 3

Chromosome

Map Location

19p13.2

Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

Orthologs

View orthologs and multiple alignments for LDLR

Proteins

low-density lipoprotein receptor isoform 1 precursor
Refseq ID	NP_000518
Protein GI	4504975
UniProt ID	P01130
mRNA ID	NM_000527
Length	860
RefSeq Status	REVIEWED
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA

low-density lipoprotein receptor isoform 2 precursor
Refseq ID	NP_001182727
Protein GI	307775412
UniProt ID	P01130
mRNA ID	NM_001195798
Length	858
RefSeq Status	REVIEWED
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSMVSLEDDVA

low-density lipoprotein receptor isoform 3 precursor
Refseq ID	NP_001182728
Protein GI	307775414
UniProt ID	P01130
mRNA ID	NM_001195799
Length	819
RefSeq Status	REVIEWED
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCSPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA

low-density lipoprotein receptor isoform 4 precursor
Refseq ID	NP_001182729
Protein GI	307775416
UniProt ID	P01130
mRNA ID	NM_001195800
Length	692
RefSeq Status	REVIEWED
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCLTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA

low-density lipoprotein receptor isoform 6 precursor
Refseq ID	NP_001182732
Protein GI	307775422
UniProt ID	P01130
mRNA ID	NM_001195803
Length	682
RefSeq Status	REVIEWED
MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPREAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA
sig_peptide: 1..21 calculated_mol_wt: 2299 peptide sequence: MGPWGWKLRWTVALLLAAAGT mat_peptide: 22..860 product: low-density lipoprotein receptor isoform 1 calculated_mol_wt: 93096 peptide sequence: AVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA sig_peptide: 1..21 calculated_mol_wt: 2299 peptide sequence: MGPWGWKLRWTVALLLAAAGT mat_peptide: 22..858 product: low-density lipoprotein receptor isoform 2 calculated_mol_wt: 92812 peptide sequence: AVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSMVSLEDDVA sig_peptide: 1..21 calculated_mol_wt: 2299 peptide sequence: MGPWGWKLRWTVALLLAAAGT mat_peptide: 22..819 product: low-density lipoprotein receptor isoform 3 calculated_mol_wt: 88660 peptide sequence: AVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCSPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA sig_peptide: 1..21 calculated_mol_wt: 2299 peptide sequence: MGPWGWKLRWTVALLLAAAGT mat_peptide: 22..692 product: low-density lipoprotein receptor isoform 4 calculated_mol_wt: 74576 peptide sequence: AVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCLTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA sig_peptide: 1..21 calculated_mol_wt: 2299 peptide sequence: MGPWGWKLRWTVALLLAAAGT mat_peptide: 22..682 product: low-density lipoprotein receptor isoform 6 calculated_mol_wt: 73574 peptide sequence: AVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPREAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA

Gene Information

Entrez Gene ID

3949

Gene Name

low density lipoprotein receptor

Gene Symbol

LDLR

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005794	IDA:UniProtKB	C	Golgi apparatus
GO:0009986	IDA:UniProtKB	C	cell surface
GO:0030669	TAS:Reactome	C	clathrin-coated endocytic vesicle membrane
GO:0005905	IDA:BHF-UCL	C	coated pit
GO:0005769	IDA:UniProtKB	C	early endosome
GO:0010008	TAS:Reactome	C	endosome membrane
GO:0009897	IDA:BHF-UCL	C	external side of plasma membrane
GO:0005887	TAS:ProtInc	C	integral component of plasma membrane
GO:0005770	IDA:UniProtKB	C	late endosome
GO:0034362	IEA:UniProtKB-KW	C	low-density lipoprotein particle
GO:0005764	IDA:UniProtKB	C	lysosome
GO:0016020	IDA:UniProtKB	C	membrane
GO:0005886	TAS:Reactome	C	plasma membrane
GO:0043235	IDA:MGI	C	receptor complex
GO:0005509	IEA:InterPro	F	calcium ion binding
GO:0001948	IPI:BHF-UCL	F	glycoprotein binding
GO:0030169	IEA:Ensembl	F	low-density lipoprotein particle binding
GO:0005041	IDA:BHF-UCL	F	low-density lipoprotein receptor activity
GO:0030229	IDA:BHF-UCL	F	very-low-density lipoprotein particle receptor activity
GO:0042632	IMP:BHF-UCL	P	cholesterol homeostasis
GO:0070508	ISS:BHF-UCL	P	cholesterol import
GO:0008203	IEA:UniProtKB-KW	P	cholesterol metabolic process
GO:0030301	IMP:HGNC	P	cholesterol transport
GO:0006897	TAS:ProtInc	P	endocytosis
GO:0030299	IMP:HGNC	P	intestinal cholesterol absorption
GO:0006629	TAS:ProtInc	P	lipid metabolic process
GO:0042159	IEA:Ensembl	P	lipoprotein catabolic process
GO:0042157	TAS:Reactome	P	lipoprotein metabolic process
GO:0034383	IMP:BHF-UCL	P	low-density lipoprotein particle clearance
GO:0015914	ISS:BHF-UCL	P	phospholipid transport
GO:0007603	TAS:Reactome	P	phototransduction, visible light
GO:0010867	ISS:BHF-UCL	P	positive regulation of triglyceride biosynthetic process
GO:0006898	TAS:Reactome	P	receptor-mediated endocytosis
GO:2000188	IEA:Ensembl	P	regulation of cholesterol homeostasis
GO:0010899	ISS:BHF-UCL	P	regulation of phosphatidylcholine catabolic process
GO:0001523	TAS:Reactome	P	retinoid metabolic process
GO:0044281	TAS:Reactome	P	small molecule metabolic process
GO:0016032	IEA:UniProtKB-KW	P	viral process

KEGG Pathway Links

KEGG Pathway ID	Description
hsa04913	Ovarian steroidogenesis

Domain Information

InterPro Annotations

Accession	Description
IPR026823	Complement Clr-like EGF domain
IPR001881	EGF-like calcium-binding domain
IPR018097	EGF-like calcium-binding, conserved site
IPR013032	EGF-like, conserved site
IPR000152	EGF-type aspartate/asparagine hydroxylation site
IPR000742	Epidermal growth factor-like domain
IPR009030	Insulin-like growth factor binding protein, N-terminal
IPR000033	LDLR class B repeat
IPR002172	Low-density lipoprotein (LDL) receptor class A repeat
IPR023415	Low-density lipoprotein (LDL) receptor class A, conserved site
IPR011042	Six-bladed beta-propeller, TolB-like

UniProt Annotations

Entry Information

Gene Name

low density lipoprotein receptor

Protein Entry

LDLR_HUMAN

UniProt ID

P01130

Species

Human

Comments

Comment Type	Description
Alternative Products	Event=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.;
Disease	Familial hypercholesterolemia (FH) [MIM
Domain	The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization.
Function	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. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
Interaction	P04114: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;
Ptm	N- and O-glycosylated. {ECO
Ptm	Ubiquitinated by MYLIP leading to degradation.
Sequence Caution	Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity	Belongs to the LDLR family.
Similarity	Contains 3 EGF-like domains. {ECO
Similarity	Contains 6 LDL-receptor class B repeats.
Similarity	Contains 7 LDL-receptor class A domains.
Subcellular Location	Cell 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.
Subunit	Interacts 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 Resource	Name=LDLR; Note=LDLR mutation database; URL="http://www.ucl.ac.uk/fh/";
Web Resource	Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR";

Identical and Related Proteins

Unique RefSeq proteins for LMP000047 (as displayed in Record Overview)

Protein GI	Database	Accession	Length	Protein Name
4504975	RefSeq	NP_000518	860	low-density lipoprotein receptor isoform 1 precursor
307775412	RefSeq	NP_001182727	858	low-density lipoprotein receptor isoform 2 precursor
307775414	RefSeq	NP_001182728	819	low-density lipoprotein receptor isoform 3 precursor
307775416	RefSeq	NP_001182729	692	low-density lipoprotein receptor isoform 4 precursor
307775422	RefSeq	NP_001182732	682	low-density lipoprotein receptor isoform 6 precursor

Identical Sequences to LMP000047 proteins

Reference	Database	Accession	Length	Protein Name
GI:307775412	DBBJ	BAG10794.1	858	low-density lipoprotein receptor precursor, partial [synthetic construct]
GI:307775422	DBBJ	BAG59010.1	682	unnamed protein product [Homo sapiens]
GI:307775416	DBBJ	BAG61112.1	692	unnamed protein product [Homo sapiens]
GI:307775414	DBBJ	BAG62065.1	819	unnamed protein product [Homo sapiens]
GI:4504975	GenBank	AFL62249.1	860	Sequence 118 from patent US 8187833
GI:4504975	GenBank	AGD02499.1	860	Sequence 118 from patent US 8338568
GI:4504975	GenBank	AGY19289.1	860	Sequence 32 from patent US 8546643
GI:4504975	GenBank	AHD69532.1	860	Sequence 546 from patent US 8586006
GI:4504975	GenBank	AHE12886.1	860	Sequence 1 from patent US 8598320
GI:4504975	GenBank	AIB01782.1	860	Sequence 2 from patent US 8669049

Related Sequences to LMP000047 proteins

Reference	Database	Accession	Length	Protein Name
GI:4504975	DBBJ	BAD92646.1	870	low density lipoprotein receptor precursor variant, partial [Homo sapiens]
GI:307775412	DBBJ	BAD92646.1	870	low density lipoprotein receptor precursor variant, partial [Homo sapiens]
GI:4504975	DBBJ	BAG10794.1	858	low-density lipoprotein receptor precursor, partial [synthetic construct]
GI:307775422	DBBJ	BAG58495.1	739	unnamed protein product [Homo sapiens]
GI:307775416	DBBJ	BAG58495.1	739	unnamed protein product [Homo sapiens]
GI:307775416	DBBJ	BAG59010.1	682	unnamed protein product [Homo sapiens]
GI:307775422	DBBJ	BAG61112.1	692	unnamed protein product [Homo sapiens]
GI:307775414	GenBank	AAA56833.1	860	low density lipoprotein receptor [Homo sapiens]
GI:307775412	GenBank	AAM56036.1	860	low density lipoprotein receptor [Homo sapiens]
GI:307775414	GenBank	AAM56036.1	860	low density lipoprotein receptor [Homo sapiens]
GI:4504975	GenBank	AAP88892.1	861	low density lipoprotein receptor (familial hypercholesterolemia), partial [synthetic construct]
GI:307775414	GenBank	AAT18841.1	860	Sequence 4 from patent US 6703222
GI:307775412	GenBank	AAT18841.1	860	Sequence 4 from patent US 6703222
GI:4504975	GenBank	AAX29654.1	861	low density lipoprotein receptor, partial [synthetic construct]
GI:4504975	GenBank	JAA28803.1	860	low density lipoprotein receptor [Pan troglodytes]
GI:307775422	GenBank	JAA35848.1	733	low density lipoprotein receptor [Pan troglodytes]
GI:307775416	GenBank	JAA35848.1	733	low density lipoprotein receptor [Pan troglodytes]
GI:307775414	GenBank	AGD02499.1	860	Sequence 118 from patent US 8338568
GI:307775412	GenBank	AGD02499.1	860	Sequence 118 from patent US 8338568
GI:307775412	GenBank	AIB01782.1	860	Sequence 2 from patent US 8669049
GI:307775414	GenBank	AIB01782.1	860	Sequence 2 from patent US 8669049
GI:4504975	RefSeq	NP_001182727.1	858	low-density lipoprotein receptor isoform 2 precursor [Homo sapiens]
GI:307775422	RefSeq	NP_001182729.1	692	low-density lipoprotein receptor isoform 4 precursor [Homo sapiens]
GI:307775416	RefSeq	NP_001182732.1	682	low-density lipoprotein receptor isoform 6 precursor [Homo sapiens]
GI:307775416	RefSeq	XP_005588056.1	692	PREDICTED: low-density lipoprotein receptor isoform X4 [Macaca fascicularis]
GI:307775422	RefSeq	XP_005588057.1	682	PREDICTED: low-density lipoprotein receptor isoform X5 [Macaca fascicularis]
GI:307775422	RefSeq	XP_009432983.1	733	PREDICTED: low-density lipoprotein receptor isoform X3 [Pan troglodytes]
GI:307775416	RefSeq	XP_009432983.1	733	PREDICTED: low-density lipoprotein receptor isoform X3 [Pan troglodytes]
GI:307775414	SwissProt	P01130.1	860	RecName: Full=Low-density lipoprotein receptor; Short=LDL receptor; Flags: Precursor [Homo sapiens]
GI:307775412	SwissProt	P01130.1	860	RecName: Full=Low-density lipoprotein receptor; Short=LDL receptor; Flags: Precursor [Homo sapiens]