• Gene id: 3949

Gene Summary

• Gene Symbol: LDLR   Gene   UCSC   Ensembl
• Aliases: FH, FHC, FHCL1, LDLCQ2
• Gene name: low density lipoprotein receptor
• Alternate names: low-density lipoprotein receptor, LDL receptor, low-density lipoprotein receptor class A domain-containing protein 3,
• Gene location: 19p13.2 (11089431: 11133819)     Exons: 18     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 606945

Protein Summary

• Protein general information: P01130  
  • Name: Low density lipoprotein receptor (LDL receptor)
  • Length: 860  
  • Mass: 95376
• Sequence:

  MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKSGDFSC
  GGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDEASCPVLTCGP
  ASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECIHSSWRCDGGPDCKDK
  SDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPNKFKCHSGECITLDKVCNMAR
  DCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQRRCEDIDECQDPDTCSQLCVNLEGGY
  KCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYTSLIPNLRNVVALDTEVASNRIYWSDLSQRM
  ICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYWTDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVD
  PVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENIQWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILE
  DEKRLAHPFSLAVFEDKVFWTDIINEAIFSANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNG
  GCQYLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTS
  RLPGATPGLTTVEIVTMSHQALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDN
  PVYQKTTEDEVHICHNQDGYSYPSRQMVSLEDDVA

• Structural information:
  • Protein Domains: (25..6-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (66..10-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (107..14-)
    A (/note="LDL-receptor-class)
    (/evid-)
  • Interpro: IPR011042  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR036055  IPR023415  IPR000033  IPR002172  
  • Prosite: PS00010 PS01186 PS50026 PS01187 PS01209 PS50068 PS51120
  • CDD: cd00112
  • PDB: 1AJJ 1D2J 1F5Y 1F8Z 1HJ7 1HZ8 1I0U 1IJQ 1LDL 1LDR 1LRX 1N7D 1XFE 2FCW 2KRI 2LGP 2M7P 2MG9 2W2M 2W2N 2W2O 2W2P 2W2Q 3BPS 3GCW 3GCX 3M0C 3P5B 3P5C 3SO6 4NE9 5OY9 5OYL
  • PDBsum: 1AJJ 1D2J 1F5Y 1F8Z 1HJ7 1HZ8 1I0U 1IJQ 1LDL 1LDR 1LRX 1N7D 1XFE 2FCW 2KRI 2LGP 2M7P 2MG9 2W2M 2W2N 2W2O 2W2P 2W2Q 3BPS 3GCW 3GCX 3M0C 3P5B 3P5C 3SO6 4NE9 5OY9 5OYL
  • DIP: 29695
  • STRING: ENSP00000454071
• Other Databases: GeneCards:  LDLR  Malacards:  LDLR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0005041	low-density lipoprotein particle receptor activity	TAS	molecular function
GO:0061889	negative regulation of astrocyte activation	ISS	biological process
GO:0006909	phagocytosis	ISS	biological process
GO:0007616	long-term memory	IGI	biological process
GO:0061771	response to caloric restriction	IGI	biological process
GO:0006898	receptor-mediated endocytosis	ISS	biological process
GO:0006898	receptor-mediated endocytosis	ISS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0042632	cholesterol homeostasis	TAS	biological process
GO:0042632	cholesterol homeostasis	IGI	biological process
GO:1905167	positive regulation of lysosomal protein catabolic process	ISS	biological process
GO:0005623	obsolete cell	ISS	cellular component
GO:0150094	amyloid-beta clearance by cellular catabolic process	ISS	biological process
GO:1903979	negative regulation of microglial cell activation	ISS	biological process
GO:1905907	negative regulation of amyloid fibril formation	ISS	biological process
GO:0051248	negative regulation of protein metabolic process	ISS	biological process
GO:0030301	cholesterol transport	TAS	biological process
GO:0051246	regulation of protein metabolic process	IGI	biological process
GO:0097242	amyloid-beta clearance	ISS	biological process
GO:0034381	plasma lipoprotein particle clearance	ISS	biological process
GO:0034381	plasma lipoprotein particle clearance	TAS	biological process
GO:0030299	intestinal cholesterol absorption	IMP	biological process
GO:0030301	cholesterol transport	IMP	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0034362	low-density lipoprotein particle	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0001618	virus receptor activity	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005041	low-density lipoprotein particle receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006897	endocytosis	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0034382	chylomicron remnant clearance	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005623	obsolete cell	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010899	regulation of phosphatidylcholine catabolic process	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030301	cholesterol transport	IEA	biological process
GO:0034384	high-density lipoprotein particle clearance	IEA	biological process
GO:0036477	somatodendritic compartment	IEA	cellular component
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0042159	lipoprotein catabolic process	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0051248	negative regulation of protein metabolic process	IEA	biological process
GO:0061889	negative regulation of astrocyte activation	IEA	biological process
GO:0070508	cholesterol import	IEA	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0097443	sorting endosome	IEA	cellular component
GO:1905167	positive regulation of lysosomal protein catabolic process	IEA	biological process
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0005041	low-density lipoprotein particle receptor activity	IEA	molecular function
GO:0005769	early endosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	IEA	biological process
GO:0015914	phospholipid transport	IEA	biological process
GO:0030169	low-density lipoprotein particle binding	IEA	molecular function
GO:0030229	very-low-density lipoprotein particle receptor activity	IEA	molecular function
GO:0034381	plasma lipoprotein particle clearance	IEA	biological process
GO:0034383	low-density lipoprotein particle clearance	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0051246	regulation of protein metabolic process	IEA	biological process
GO:0061771	response to caloric restriction	IEA	biological process
GO:0097242	amyloid-beta clearance	IEA	biological process
GO:0150094	amyloid-beta clearance by cellular catabolic process	IEA	biological process
GO:1903979	negative regulation of microglial cell activation	IEA	biological process
GO:1905907	negative regulation of amyloid fibril formation	IEA	biological process
GO:1990666	PCSK9-LDLR complex	IDA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0005041	low-density lipoprotein particle receptor activity	IC	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:1990666	PCSK9-LDLR complex	IDA	cellular component
GO:0032050	clathrin heavy chain binding	TAS	molecular function
GO:0005041	low-density lipoprotein particle receptor activity	IDA	molecular function
GO:0005041	low-density lipoprotein particle receptor activity	IDA	molecular function
GO:0030229	very-low-density lipoprotein particle receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0010899	regulation of phosphatidylcholine catabolic process	ISS	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0070508	cholesterol import	ISS	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0030169	low-density lipoprotein particle binding	IMP	molecular function
GO:0005041	low-density lipoprotein particle receptor activity	IMP	molecular function
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0010867	positive regulation of triglyceride biosynthetic process	ISS	biological process
GO:0015914	phospholipid transport	ISS	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0045177	apical part of cell	ISS	cellular component
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0070508	cholesterol import	IMP	biological process
GO:0090118	receptor-mediated endocytosis involved in cholesterol transport	IMP	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IMP	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04934	Cushing syndrome
hsa05160	Hepatitis C
hsa04925	Aldosterone synthesis and secretion
hsa05145	Toxoplasmosis
hsa04976	Bile secretion
hsa04927	Cortisol synthesis and secretion
hsa04979	Cholesterol metabolism
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Hyperlipidemia	KEGG:H01635
Familial hypercholesterolemia	KEGG:H00155
Hyperlipoproteinemia type IIa	KEGG:H01383
Hyperlipidemia	KEGG:H01635
Familial hypercholesterolemia	KEGG:H00155
Hyperlipoproteinemia type IIa	KEGG:H01383
Alzheimer's disease	PMID:17239995
Alzheimer's disease	PMID:15689450
Alzheimer's disease	PMID:15585340
migraine without aura	PMID:12873747
Arteriosclerosis	PMID:12969990
Systemic lupus erythematosus	PMID:19811272
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Spermatogenic failure	MIK: 17921478
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
17921478	Spermatogenic failure			69 samples	Male infertility	Microarray