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LDLR

CANCER ATLAS

Gene description

 Low density lipoprotein receptor

Protein class

 Disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA009647
HPA013159

GENE INFORMATION

Gene name

 LDLR (HGNC Symbol)

Synonyms

 LDLCQ2

Description

 Low density lipoprotein receptor (HGNC Symbol)

Entrez gene 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]

Chromosome

 19

Cytoband

 p13.2

Chromosome location (bp)

 11089362 - 11133816

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130164 (version 83.38)

Entrez gene

 3949

UniProt

 P01130 (UniProt - Evidence at protein level)

neXtProt

 NX_P01130

Antibodypedia

 LDLR antibodies

PROTEIN BROWSER
LDLR-001
LDLR-002
LDLR-003
LDLR-004
LDLR-006
LDLR-007
LDLR-011
LDLR-012

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
LDLR-001
ENSP00000440520
ENST00000535915
P01130 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001618 [virus receptor activity]
GO:0001948 [glycoprotein binding]
GO:0002020 [protease binding]
GO:0004872 [receptor activity]
GO:0005041 [low-density lipoprotein receptor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005905 [coated pit]
GO:0006629 [lipid metabolic process]
GO:0006897 [endocytosis]
GO:0006898 [receptor-mediated endocytosis]
GO:0007603 [phototransduction, visible light]
GO:0009897 [external side of plasma membrane]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010867 [positive regulation of triglyceride biosynthetic process]
GO:0010899 [regulation of phosphatidylcholine catabolic process]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030229 [very-low-density lipoprotein particle receptor activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0030301 [cholesterol transport]
GO:0030669 [clathrin-coated endocytic vesicle membrane]
GO:0032050 [clathrin heavy chain binding]
GO:0034362 [low-density lipoprotein particle]
GO:0034383 [low-density lipoprotein particle clearance]
GO:0042157 [lipoprotein metabolic process]
GO:0042632 [cholesterol homeostasis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0046718 [viral entry into host cell]
GO:0070508 [cholesterol import]
GO:1990666 [PCSK9-LDLR complex]
Show all
 819 aa
90.9 kDa 		Yes 1
LDLR-002
ENSP00000453346
ENST00000558013
P01130 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001618 [virus receptor activity]
GO:0001948 [glycoprotein binding]
GO:0002020 [protease binding]
GO:0004872 [receptor activity]
GO:0005041 [low-density lipoprotein receptor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005905 [coated pit]
GO:0006629 [lipid metabolic process]
GO:0006897 [endocytosis]
GO:0006898 [receptor-mediated endocytosis]
GO:0007603 [phototransduction, visible light]
GO:0009897 [external side of plasma membrane]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010867 [positive regulation of triglyceride biosynthetic process]
GO:0010899 [regulation of phosphatidylcholine catabolic process]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030229 [very-low-density lipoprotein particle receptor activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0030301 [cholesterol transport]
GO:0030669 [clathrin-coated endocytic vesicle membrane]
GO:0032050 [clathrin heavy chain binding]
GO:0034362 [low-density lipoprotein particle]
GO:0034383 [low-density lipoprotein particle clearance]
GO:0042157 [lipoprotein metabolic process]
GO:0042632 [cholesterol homeostasis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0046718 [viral entry into host cell]
GO:0070508 [cholesterol import]
GO:1990666 [PCSK9-LDLR complex]
Show all
 858 aa
95.1 kDa 		Yes 1
LDLR-003
ENSP00000454071
ENST00000558518
P01130 [Direct mapping]
Low-density lipoprotein receptor
A0A024R7D5 [Target identity:100%; Query identity:100%]
Low density lipoprotein receptor (Familial hypercholesterolemia), isoform CRA_b
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001618 [virus receptor activity]
GO:0001948 [glycoprotein binding]
GO:0002020 [protease binding]
GO:0004872 [receptor activity]
GO:0005041 [low-density lipoprotein receptor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005905 [coated pit]
GO:0006629 [lipid metabolic process]
GO:0006897 [endocytosis]
GO:0006898 [receptor-mediated endocytosis]
GO:0007603 [phototransduction, visible light]
GO:0008203 [cholesterol metabolic process]
GO:0009897 [external side of plasma membrane]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010867 [positive regulation of triglyceride biosynthetic process]
GO:0010899 [regulation of phosphatidylcholine catabolic process]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030169 [low-density lipoprotein particle binding]
GO:0030229 [very-low-density lipoprotein particle receptor activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0030301 [cholesterol transport]
GO:0030669 [clathrin-coated endocytic vesicle membrane]
GO:0032050 [clathrin heavy chain binding]
GO:0034362 [low-density lipoprotein particle]
GO:0034383 [low-density lipoprotein particle clearance]
GO:0042157 [lipoprotein metabolic process]
GO:0042159 [lipoprotein catabolic process]
GO:0042632 [cholesterol homeostasis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0046718 [viral entry into host cell]
GO:0070508 [cholesterol import]
GO:1990666 [PCSK9-LDLR complex]
GO:2000188 [regulation of cholesterol homeostasis]
Show all
 860 aa
95.4 kDa 		Yes 1
LDLR-004
ENSP00000252444
ENST00000252444
J3KMZ9 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0016021 [integral component of membrane]
Show all
 945 aa
104.6 kDa 		No 1
LDLR-006
ENSP00000437639
ENST00000545707
P01130 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001618 [virus receptor activity]
GO:0001948 [glycoprotein binding]
GO:0002020 [protease binding]
GO:0004872 [receptor activity]
GO:0005041 [low-density lipoprotein receptor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005905 [coated pit]
GO:0006629 [lipid metabolic process]
GO:0006897 [endocytosis]
GO:0006898 [receptor-mediated endocytosis]
GO:0007603 [phototransduction, visible light]
GO:0009897 [external side of plasma membrane]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010867 [positive regulation of triglyceride biosynthetic process]
GO:0010899 [regulation of phosphatidylcholine catabolic process]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030229 [very-low-density lipoprotein particle receptor activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0030301 [cholesterol transport]
GO:0030669 [clathrin-coated endocytic vesicle membrane]
GO:0032050 [clathrin heavy chain binding]
GO:0034362 [low-density lipoprotein particle]
GO:0034383 [low-density lipoprotein particle clearance]
GO:0042157 [lipoprotein metabolic process]
GO:0042632 [cholesterol homeostasis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0046718 [viral entry into host cell]
GO:0070508 [cholesterol import]
GO:1990666 [PCSK9-LDLR complex]
Show all
 682 aa
75.9 kDa 		Yes 1
LDLR-007
ENSP00000397829
ENST00000455727
P01130 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001618 [virus receptor activity]
GO:0001948 [glycoprotein binding]
GO:0002020 [protease binding]
GO:0004872 [receptor activity]
GO:0005041 [low-density lipoprotein receptor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005905 [coated pit]
GO:0006629 [lipid metabolic process]
GO:0006897 [endocytosis]
GO:0006898 [receptor-mediated endocytosis]
GO:0007603 [phototransduction, visible light]
GO:0009897 [external side of plasma membrane]
GO:0009986 [cell surface]
GO:0010008 [endosome membrane]
GO:0010867 [positive regulation of triglyceride biosynthetic process]
GO:0010899 [regulation of phosphatidylcholine catabolic process]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030229 [very-low-density lipoprotein particle receptor activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0030301 [cholesterol transport]
GO:0030669 [clathrin-coated endocytic vesicle membrane]
GO:0032050 [clathrin heavy chain binding]
GO:0034362 [low-density lipoprotein particle]
GO:0034383 [low-density lipoprotein particle clearance]
GO:0042157 [lipoprotein metabolic process]
GO:0042632 [cholesterol homeostasis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045177 [apical part of cell]
GO:0046718 [viral entry into host cell]
GO:0070508 [cholesterol import]
GO:1990666 [PCSK9-LDLR complex]
Show all
 692 aa
76.9 kDa 		Yes 1
LDLR-011
ENSP00000453513
ENST00000560467
H0YM92 [Direct mapping]
Low-density lipoprotein receptor
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
Show all
 309 aa
34.2 kDa 		No 0
LDLR-012
ENSP00000453557
ENST00000557933
H0YMD1 [Direct mapping]
Low-density lipoprotein receptor
Show all
   SCAMPI predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0016021 [integral component of membrane]
Show all
 948 aa
104.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.