Aliases for LDLR Gene
Aliases for LDLR Gene
External Ids for LDLR Gene
- HGNC: 6547
- Entrez Gene: 3949
- Ensembl: ENSG00000130164
- OMIM: 606945
- UniProtKB: P01130
Previous GeneCards Identifiers for LDLR Gene
- GC19P011331
- GC19P011045
- GC19P011200
- GC19P010777
Summaries for LDLR Gene
-
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]
GeneCards Summary for LDLR Gene
LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial and Homozygous Familial Hypercholesterolemia. Among its related pathways are Ovarian steroidogenesis and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is LRP8.
UniProtKB/Swiss-Prot for LDLR Gene
-
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.
-
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.
-
(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.
-
(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
Additional gene information for LDLR Gene
- Monarch Initiative
- Search for LDLR at DataMed
- Search for LDLR at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDLR Gene
Genomics for LDLR Gene
GeneHancer (GH) Regulatory Elements for LDLR Gene
Promoters and enhancers for LDLR Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH19J011086 | Promoter/Enhancer | 2.6 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 653.4 | +3.0 | 3008 | 11 | FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC | LDLR ILF3 RAVER1 KRI1 ZNF700 ZNF491 ZNF844 ZNF441 ZNF627 ZNF878 | |
| GH19J011557 | Promoter/Enhancer | 1.8 | FANTOM5 Ensembl ENCODE | 1.7 | +470.2 | 470199 | 3.2 | HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 | ELOF1 ZNF627 PRKCSH ZNF700 ZNF136 ZNF799 ZNF564 KRI1 ZNF20 ZNF44 | |
| GH19J011129 | Enhancer | 1.1 | ENCODE dbSUPER | 0.3 | +41.4 | 41353 | 2.8 | HDGF SMAD1 FOXA2 ARID4B DMAP1 ZNF2 ZNF48 ZNF121 POLR2B E2F8 | SPC24 MIR6886 LDLR | |
| GH19J011105 | Enhancer | 0.8 | ENCODE dbSUPER | 0.4 | +17.1 | 17112 | 1.4 | SCRT1 SMAD5 REST POLR2B POLR2A SCRT2 RCOR1 SUPT5H CHD2 | SPC24 TMEM205 MIR6886 LDLR | |
| GH19J011099 | Enhancer | 0.7 | ENCODE dbSUPER | 0.4 | +10.7 | 10743 | 1.2 | ZNF121 SMAD5 POLR2A SUPT5H SETDB1 | LDLR MIR6886 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around LDLR on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LDLR gene promoter:
-
- AP-1
- AP-2alphaA
- AP-2alpha isoform 4
- AP-2alpha isoform 3
- AP-2alpha isoform 2
- AP-2alpha
- C/EBPbeta
- PPAR-gamma1
- PPAR-gamma2
Regulatory Element Products
Genomic Locations for LDLR Gene
Genomic Locations for LDLR Gene
- chr19:11,089,362-11,133,830
- (GRCh38/hg38)
- Size:
- 44,469 bases
- Orientation:
- Plus strand
- chr19:11,200,038-11,244,506
- (GRCh37/hg19)
- Size:
- 44,469 bases
- Orientation:
- Plus strand
Genomic View for LDLR Gene
Genes around LDLR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
- 19p13.2 by Ensembl
LDLR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LDLR Gene
Proteins for LDLR Gene
-
Protein details for LDLR Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P01130-LDLR_HUMAN
- Recommended name:
- Low-density lipoprotein receptor
- Protein Accession:
- P01130
- B4DII3
- B4DJZ8
- B4DR00
- B4DTQ3
- C0JYY8
- H0YLU8
- H0YNT7
- Q53ZD9
- Q59FQ1
- Q9UDH7
Protein attributes for LDLR Gene
- Size:
- 860 amino acids
- Molecular mass:
- 95376 Da
- Quaternary structure:
-
- 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).
- (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.
- (Microbial infection) May interact with HIV-1 Tat.
- SequenceCaution:
-
- Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for LDLR Gene
Protein Expression for LDLR Gene
Post-translational modifications for LDLR Gene
- N- and O-glycosylated.
- Ubiquitinated by MYLIP leading to degradation.
- Glycosylation at posLast=750750, posLast=743743, isoforms=2, 3, 4, 5, 6742, posLast=741741, posLast=738738, posLast=732732, posLast=724724, isoforms=3, 4, 5, 6721, isoforms=2, 3, 4, 5, 6657, isoforms=2, 3, 4, 5, 6515, isoforms=2, 4, 5, 6272, isoforms=4, 5, 6156, and isoforms=2, 3, 597
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- LDLR_HUMAN (343)
Other Protein References for LDLR Gene
Antibody Products
- R&D Systems Antibodies for LDLR (LDL R)
- Novus Biologicals Antibodies for LDLR
-
Abcam antibodies for LDLR
- Invitrogen Antibodies for LDLR
- antibodies-online: Search results for 279 available LDLR Antibodies ranked by validation data
- Compare Top LDLR Antibodies
-
Recommended
- 170 WB Antibodies (anti-human)
- 35 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 CC Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 50 WB Antibodies (anti-mouse)
- 18 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IP Antibody (anti-mouse)
- 34 WB Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 1 IP Antibody (anti-rat)
- GeneTex LDLR Antibody for LDLR
-
Boster Bio Antibodies for LDLR
-
Custom Antibody ServicesProSci Antibodies for LDLR
-
Santa Cruz Biotechnology (SCBT) Antibodies for LDLR
- Sino Biological Antibodies for LDLR
Protein Products
- R&D Systems Proteins and Enzymes for LDLR (LDL R)
-
OriGene Purified Proteins for LDLR
- Search Origene for MassSpec and Protein Over-expression Lysates for LDLR
- Origene Custom Protein Services for LDLR
- Sino Biological Recombinant Proteins for LDLR
- Sino Biological Cell Lysates for LDLR
- GeneTex Proteins for LDLR
-
Abcam proteins for LDLR
Assay Products
- R&D Systems ELISAs and other biochemical assays for LDLR (LDL R)
- Sino Biological Assays for LDLR
No data available for DME Specific Peptides for LDLR Gene
Domains & Families for LDLR Gene
Gene Families for LDLR Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for LDLR Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LDLR Gene
- GenScript: Design optimal peptide antigens:
-
- LDLR (A2SZX1_HUMAN)
- cDNA FLJ50552, highly similar to Low-density lipoprotein receptor (B4DJZ8_HUMAN)
- cDNA FLJ50622, highly similar to Low-density lipoprotein receptor (B4DR00_HUMAN)
- cDNA FLJ50672, highly similar to Low-density lipoprotein receptor (B4DTQ3_HUMAN)
- Low density lipoprotein (E1B4S5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01130UniProtKB/Swiss-Prot:
LDLR_HUMAN :- The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
- Belongs to the LDLR family.
- Domain:
-
- The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
- Family:
-
- Belongs to the LDLR family.
Function for LDLR Gene
Molecular function for LDLR Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Acts as a receptor for Vesicular stomatitis virus.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
- GENATLAS Biochemistry:
- lipoprotein,low density,receptor
Phenotypes From GWAS Catalog for LDLR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001540 | amyloid-beta binding | IEA | -- |
| GO:0001618 | virus receptor activity | IEA | -- |
| GO:0002020 | protease binding | IPI | 22081141 |
| GO:0005041 | low-density lipoprotein particle receptor activity | TAS,IMP | 20005821 |
| GO:0005509 | calcium ion binding | IEA | -- |
Phenotypes for LDLR Gene
- MGI mutant phenotypes for LDLR:
-
inferred from 6 alleles
- cardiovascular system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- normal phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for LDLR:
-
- Decreased HPV16-GFP infection
- Dynamic nuclei (hole, folded or small irregular)
- Increased viability after borna disease (rVSVI9G*/BDVG) virus infection
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased LDL uptake
- Decreased free cholesterol
- Increased transferrin (TF) endocytosis
Animal Models for LDLR Gene
- MGI Knock Outs for LDLR:
-
- Ldlr Ldlr<tm1Her>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LDLR
-
CRISPR Products
-
OriGene CRISPR knockouts for LDLR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LDLR
- genomics-online: gRNA clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
- Applied Biological Materials CRISPR for LDLR
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDLR
- GenScript: Design CRISPR guide RNA sequences for LDLR
miRNA for LDLR Gene
- miRTarBase miRNAs that target LDLR
-
- hsa-mir-130a-3p (MIRT007140)
- hsa-mir-335-5p (MIRT017122)
- hsa-mir-130b-3p (MIRT020235)
- hsa-mir-128-3p (MIRT021895)
- hsa-mir-124-3p (MIRT022254)
- hsa-mir-93-5p (MIRT027940)
- hsa-mir-30a-5p (MIRT028459)
- hsa-mir-19b-3p (MIRT031195)
- hsa-let-7b-5p (MIRT032197)
- hsa-mir-744-5p (MIRT037702)
- hsa-mir-26b-3p (MIRT038952)
- hsa-mir-92b-3p (MIRT040715)
- hsa-mir-149-5p (MIRT045415)
- hsa-mir-92a-3p (MIRT049680)
- bta-mir-17-5p (MIRT053868)
- bta-mir-146a (MIRT053926)
- bta-mir-146b (MIRT053942)
- hsa-mir-27a-3p (MIRT054738)
- hsa-mir-30c-5p (MIRT081078)
- hsa-mir-30d-5p (MIRT081079)
- hsa-mir-30b-5p (MIRT081080)
- hsa-mir-30e-5p (MIRT081081)
- hsa-mir-17-5p (MIRT081115)
- hsa-mir-19a-3p (MIRT081116)
- hsa-mir-20a-5p (MIRT081117)
- hsa-mir-106a-5p (MIRT081118)
- hsa-mir-106b-5p (MIRT081119)
- hsa-mir-301a-3p (MIRT081120)
- hsa-mir-20b-5p (MIRT081121)
- hsa-mir-519c-3p (MIRT081122)
- hsa-mir-526b-3p (MIRT081123)
- hsa-mir-519b-3p (MIRT081124)
- hsa-mir-519d-3p (MIRT081125)
- hsa-mir-520g-3p (MIRT081126)
- hsa-mir-520h (MIRT081127)
- hsa-mir-519a-3p (MIRT081128)
- hsa-mir-605-5p (MIRT081129)
- hsa-mir-548c-3p (MIRT081130)
- hsa-mir-454-3p (MIRT081131)
- hsa-mir-301b-3p (MIRT081132)
- hsa-mir-4295 (MIRT081133)
- hsa-mir-4301 (MIRT081134)
- hsa-mir-4286 (MIRT081135)
- hsa-mir-3613-3p (MIRT081136)
- hsa-mir-3666 (MIRT081137)
- hsa-mir-4668-3p (MIRT081138)
- hsa-mir-4803 (MIRT081139)
- hsa-mir-181a-5p (MIRT081140)
- hsa-mir-181b-5p (MIRT081141)
- hsa-mir-181c-5p (MIRT081142)
- hsa-mir-27b-3p (MIRT081143)
- hsa-mir-181d-5p (MIRT081144)
- hsa-mir-506-5p (MIRT081146)
- hsa-mir-641 (MIRT081147)
- hsa-mir-4262 (MIRT081148)
- hsa-mir-3617-5p (MIRT081149)
- hsa-mir-4708-3p (MIRT149625)
- hsa-mir-6867-5p (MIRT149665)
- hsa-mir-216a-3p (MIRT149682)
- hsa-mir-1468-3p (MIRT149695)
- hsa-mir-548f-5p (MIRT149701)
- hsa-mir-548g-5p (MIRT149702)
- hsa-mir-548x-5p (MIRT149712)
- hsa-mir-4251 (MIRT149716)
- hsa-mir-3681-3p (MIRT149719)
- hsa-mir-4428 (MIRT149721)
- hsa-mir-548aj-5p (MIRT149726)
- hsa-mir-4539 (MIRT149729)
- hsa-mir-4681 (MIRT149735)
- hsa-mir-203b-3p (MIRT149737)
- hsa-mir-4786-5p (MIRT149745)
- hsa-mir-548aw (MIRT149747)
- hsa-let-7a-3p (MIRT149839)
- hsa-let-7b-3p (MIRT149841)
- hsa-let-7f-1-3p (MIRT149842)
- hsa-let-7f-2-3p (MIRT149843)
- hsa-mir-98-3p (MIRT149844)
- hsa-mir-7-1-3p (MIRT149846)
- hsa-mir-7-2-3p (MIRT149847)
- hsa-mir-187-5p (MIRT149849)
- hsa-mir-212-3p (MIRT149853)
- hsa-mir-132-3p (MIRT149855)
- hsa-mir-140-5p (MIRT149856)
- hsa-mir-190a-3p (MIRT149858)
- hsa-mir-495-3p (MIRT149867)
- hsa-mir-524-5p (MIRT149871)
- hsa-mir-520d-5p (MIRT149873)
- hsa-mir-518a-5p (MIRT149875)
- hsa-mir-527 (MIRT149879)
- hsa-mir-548d-3p (MIRT149888)
- hsa-mir-1185-2-3p (MIRT149890)
- hsa-mir-1283 (MIRT149891)
- hsa-mir-1185-1-3p (MIRT149892)
- hsa-mir-450b-5p (MIRT149895)
- hsa-mir-548h-3p (MIRT149900)
- hsa-mir-1284 (MIRT149901)
- hsa-mir-3121-3p (MIRT149903)
- hsa-mir-548z (MIRT149923)
- hsa-mir-548ac (MIRT149926)
- hsa-mir-5011-5p (MIRT149946)
- hsa-mir-5688 (MIRT149952)
- hsa-mir-548bb-3p (MIRT149976)
- hsa-mir-539-5p (MIRT485424)
- hsa-mir-1277-5p (MIRT522758)
- hsa-mir-6083 (MIRT522759)
- hsa-mir-223-5p (MIRT522760)
- hsa-mir-511-3p (MIRT522761)
- hsa-mir-410-3p (MIRT522762)
- hsa-mir-4666a-3p (MIRT536389)
- hsa-mir-381-3p (MIRT536390)
- hsa-mir-300 (MIRT536391)
- hsa-mir-377-3p (MIRT633262)
- hsa-mir-4532 (MIRT633263)
- hsa-mir-1247-3p (MIRT633264)
- hsa-mir-1228-3p (MIRT633265)
- hsa-mir-4284 (MIRT642544)
- hsa-mir-2276-3p (MIRT642545)
- hsa-mir-4638-5p (MIRT642546)
- hsa-mir-1307-3p (MIRT642547)
- hsa-mir-1304-3p (MIRT642548)
- hsa-mir-6741-3p (MIRT642549)
- hsa-mir-6890-3p (MIRT642550)
- hsa-mir-299-5p (MIRT702286)
- hsa-mir-484 (MIRT702287)
- hsa-mir-3155b (MIRT702288)
- hsa-mir-3155a (MIRT702289)
- hsa-mir-199a-5p (MIRT733237)
- hsa-mir-1972 (MIRT738674)
- hsa-mir-2277-3p (MIRT739114)
- hsa-mir-449b-3p (MIRT745417)
- hsa-mir-4691-3p (MIRT747090)
- hsa-mir-4717-5p (MIRT747523)
- hsa-mir-6511b-5p (MIRT753200)
- hsa-mir-6741-5p (MIRT754341)
- hsa-mir-6742-3p (MIRT754358)
- hsa-mir-6765-3p (MIRT755066)
- hsa-mir-6776-5p (MIRT755368)
- hsa-mir-6811-5p (MIRT756687)
- hsa-mir-7851-3p (MIRT759887)
- hsa-mir-1229-5p (MIRT761451)
- hsa-mir-148a-3p (MIRT762749)
- hsa-mir-148b-3p (MIRT762759)
- hsa-mir-152-3p (MIRT762891)
- hsa-mir-197-5p (MIRT763533)
- hsa-mir-205-3p (MIRT763723)
- hsa-mir-2392 (MIRT764005)
- hsa-mir-3132 (MIRT764886)
- hsa-mir-3133 (MIRT764895)
- hsa-mir-3605-5p (MIRT765843)
- hsa-mir-3687 (MIRT766776)
- hsa-mir-3913-3p (MIRT767602)
- hsa-mir-3942-3p (MIRT767858)
- hsa-mir-4442 (MIRT769157)
- hsa-mir-4709-5p (MIRT771385)
- hsa-mir-4795-5p (MIRT772491)
- hsa-mir-5094 (MIRT773272)
- hsa-mir-548b-3p (MIRT774269)
- hsa-mir-593-3p (MIRT775376)
- hsa-mir-6716-5p (MIRT777705)
- hsa-mir-6746-5p (MIRT778223)
- hsa-mir-6771-5p (MIRT778679)
- hsa-mir-6782-5p (MIRT779060)
- hsa-mir-6818-3p (MIRT779831)
- hsa-mir-6845-3p (MIRT780217)
- hsa-mir-6894-5p (MIRT781280)
- hsa-mir-6895-3p (MIRT781292)
- hsa-mir-7106-5p (MIRT781350)
- hsa-mir-7704 (MIRT782086)
- hsa-mir-802 (MIRT782291)
- hsa-mir-8053 (MIRT782304)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LDLR
- Browse OriGene Inhibitory RNA Products For LDLR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDLR
- genomics-online: shRNA clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for LDLR
- RC200006L1V
- RC200006L2V
- RC230883L1V
- RC230883L2V
- RC231420L1V
- RC231420L2V
- RC231378L1V
- RC231378L2V
- RC231397L1V
- RC231397L2V
- RC231372L1V
- RC231372L2V
- RC200006
- RC200006L1
- RC200006L2
- RG200006
- RC230883
- RC230883L1
- RC230883L2
- RG230883
- RC231420
- RC231420L1
- RC231420L2
- RG231420
- RC231378
- RC231378L1
- RC231378L2
- RG231378
- RC231397
- RC231397L1
- RC231397L2
- RG231397
- RC231372
- RC231372L1
- RC231372L2
- RG231372
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LDLR
- VectorBuilder custom plasmid, inducible vectors for LDLR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LDLR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LDLR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LDLR
- genomics-online: cdna clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
- orf clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
- Applied Biological Materials Clones for LDLR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for LDLR (LDL R)
Cell Line Products
-
Horizon Cell Lines for LDLR
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LDLR Gene
Localization for LDLR Gene
Subcellular locations from UniProtKB/Swiss-Prot for LDLR Gene
- Cell membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome. Note=Rapidly endocytosed upon ligand binding. {ECO:0000269 PubMed:3104336}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| peroxisome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005622 | intracellular | ISS | -- |
| GO:0005764 | lysosome | IDA,IEA | 15166224 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA,IDA | 15166224 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LDLR Gene
Pathways & Interactions for LDLR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Statin Pathway |
.71
|
|
| 2 | Lipoprotein metabolism | ||
| 3 | Aldosterone synthesis and secretion | ||
| 4 | Metabolism of fat-soluble vitamins | ||
| 5 | Folate Metabolism | ||
Pathways by source for LDLR Gene
13 BioSystems pathways for LDLR Gene
15 Reactome pathways for LDLR Gene
1 PharmGKB pathway for LDLR Gene
9 KEGG pathways for LDLR Gene
3 GeneGo (Thomson Reuters) pathways for LDLR Gene
1 R&D Systems pathway for LDLR Gene
1 Qiagen pathway for LDLR Gene
Interacting Proteins for LDLR Gene
Selected Interacting proteins:
P01130-LDLR_HUMAN
ENSP00000454071
for LDLR Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for LDLR
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | TAS | 6299582 |
| GO:0006869 | lipid transport | IEA | -- |
| GO:0006897 | endocytosis | TAS | 12671190 |
| GO:0006898 | receptor-mediated endocytosis | ISS | -- |
| GO:0007616 | long-term memory | IGI | 24412220 |
Drugs & Compounds for LDLR Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| atorvastatin | Approved | Pharma | Competitive, Inhibitor | 0 | ||
| Lovastatin | Approved, Investigational | Pharma | Competitive, Inhibitor, Full agonist, Agonist | HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor | 68 | |
| Pravastatin | Approved | Pharma | Competitive, Inhibitor | 154 | ||
| Rosuvastatin | Approved | Pharma | Competitive, Inhibitor | 0 | ||
| Simvastatin | Approved | Pharma | Competitive, Inhibitor | HMG-CoA reductase inhibitor | 537 |
(1) Tocris Compounds for LDLR Gene
| Compound | Action | Cas Number |
|---|---|---|
| COG 133 | ApoE peptide fragment | 514200-66-9 |
Drug Products
Transcripts for LDLR Gene
mRNA/cDNA for LDLR Gene
- (7) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000558518 3617 bps (uc002mqk.5)
- ENST00000557933 2941 bps (uc060toi.1)
- ENST00000560502 509 bps (uc060toj.1)
- ENST00000557958 1881 bps (uc060tok.1)
- ENST00000455727 2333 bps (uc010xlo.3)
Unigene Clusters for LDLR Gene
CRISPR Products
-
OriGene CRISPR knockouts for LDLR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LDLR
- genomics-online: gRNA clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDLR
- GenScript: Design CRISPR guide RNA sequences for LDLR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LDLR
- Browse OriGene Inhibitory RNA Products For LDLR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDLR
- genomics-online: shRNA clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
Clone Products
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OriGene ORF clones in human for LDLR
- RC200006L1V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LDLR
- VectorBuilder custom plasmid, inducible vectors for LDLR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LDLR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LDLR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LDLR
- genomics-online: cdna clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
- orf clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
- Applied Biological Materials Clones for LDLR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for LDLR (LDL R)
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 18a | · | 18b | · | 18c |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: | |||||
| SP8: |
Expression for LDLR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
- Liver (Hepatobiliary System)
-
Spinal Cord (Nervous System)
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
- Endothelium (Cardiovascular System)
-
Umbilical Cord (Extraembryonic Tissues)
-
Lung (Respiratory System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for LDLR Gene
This gene is overexpressed in Adrenal Gland (x4.6).
This gene is overexpressed in Breast (57.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LDLR Gene
NURSA nuclear receptor signaling pathways regulating expression of LDLR Gene:
LDLRSOURCE GeneReport for Unigene cluster for LDLR Gene:
Hs.213289Evidence on tissue expression from TISSUES for LDLR Gene
- Nervous system(4.9)
- Liver(4.7)
- Bone marrow(4.5)
- Lung(4.5)
- Intestine(3.4)
- Pancreas(3.3)
- Blood(2.8)
- Kidney(2.8)
- Heart(2.5)
- Muscle(2.5)
- Adrenal gland(2.4)
- Skin(2.2)
- Spleen(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LDLR Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- skeleton
Regions:
Head and neck:
- ear
- eye
- eyelid
- face
- head
Thorax:
- heart
Abdomen:
- duodenum
- intestine
- liver
- small intestine
General:
- blood
- blood vessel
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for LDLR
-
OriGene qPCR primer pairs for LDLR
- genomics-online: primer clones - Search results for 152 available LDLR gene related products
- Overview of 152 available LDLR gene related products
-
Recommended
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LDLR Gene
Orthologs for LDLR Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LDLR 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LDLR 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LDLR 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ldlr 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ldlr 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LDLR 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LDLR 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | LDLR 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495826 33 |
|
||
| Str.17411 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397757 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ldlra 33 |
|
||
| ldlr 34 |
|
OneToMany | |||
| LDLR (3 of 3) 34 |
|
OneToMany | |||
| LDLR (1 of 3) 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.34 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4861 35 |
|
|
|
| LpR1 34 |
|
ManyToMany | |||
| LpR2 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | T13C2.6 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for LDLR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for LDLR Gene
- ENSEMBL:
- Gene Tree for LDLR (if available)
- TreeFam:
- Gene Tree for LDLR (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LDLR: view image
Paralogs for LDLR Gene
(22) SIMAP similar genes for LDLR Gene using alignment to 10 proteins:
- LDLR_HUMAN
- A2SZX1_HUMAN
- E1B4S5_HUMAN
- E1B4T0_HUMAN
- E2J5K4_HUMAN
- H0YM92_HUMAN
- H0YMD1_HUMAN
- H0YMQ3_HUMAN
- J3KMZ9_HUMAN
- Q9UH51_HUMAN
Variants for LDLR Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1003723 | benign, Familial hypercholesterolemia | 11,113,505(+) | C/A/T | intron_variant | |
| rs1009426672 | uncertain-significance, Familial hypercholesterolemia | 11,133,109(+) | A/C/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1013147010 | pathogenic, Familial hypercholesterolemia | 11,105,492(+) | C/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs10401667 | benign, Familial hypercholesterolemia | 11,110,880(+) | T/G | intron_variant | |
| rs10409044 | likely-benign, Familial hypercholesterolemia | 11,132,298(+) | G/C | 3_prime_UTR_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3364262 | CNV | insertion | 20981092 |
| nsv1071910 | CNV | deletion | 25765185 |
| nsv470126 | CNV | loss | 18288195 |
| nsv476545 | CNV | novel sequence insertion | 20440878 |
| nsv833751 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.13;
69.32% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LDLR Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDLR Gene
Disorders for LDLR Gene
(38) MalaCards diseases for LDLR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypercholesterolemia, familial |
|
|
| homozygous familial hypercholesterolemia |
|
|
| stomatitis |
|
|
| familial hyperlipidemia |
|
|
| hypercholesterolemia, autosomal dominant, type b |
|
Search LDLR in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LDLR_HUMAN- Familial hypercholesterolemia (FH) [MIM:143890]: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations. {ECO:0000269 PubMed:10090484, ECO:0000269 PubMed:10206683, ECO:0000269 PubMed:10422803, ECO:0000269 PubMed:10447263, ECO:0000269 PubMed:10532689, ECO:0000269 PubMed:10660340, ECO:0000269 PubMed:10882754, ECO:0000269 PubMed:10978268, ECO:0000269 PubMed:10980548, ECO:0000269 PubMed:11298688, ECO:0000269 PubMed:11462246, ECO:0000269 PubMed:1446662, ECO:0000269 PubMed:1464748, ECO:0000269 PubMed:17142622, ECO:0000269 PubMed:17347910, ECO:0000269 PubMed:1867200, ECO:0000269 PubMed:19318025, ECO:0000269 PubMed:19319977, ECO:0000269 PubMed:22160468, ECO:0000269 PubMed:22509010, ECO:0000269 PubMed:2318961, ECO:0000269 PubMed:24529145, ECO:0000269 PubMed:25378237, ECO:0000269 PubMed:25545329, ECO:0000269 PubMed:2569482, ECO:0000269 PubMed:2726768, ECO:0000269 PubMed:3263645, ECO:0000269 PubMed:3955657, ECO:0000269 PubMed:7550239, ECO:0000269 PubMed:7573037, ECO:0000269 PubMed:7583548, ECO:0000269 PubMed:7635461, ECO:0000269 PubMed:7635482, ECO:0000269 PubMed:7649546, ECO:0000269 PubMed:7649549, ECO:0000269 PubMed:8168830, ECO:0000269 PubMed:8347689, ECO:0000269 PubMed:8462973, ECO:0000269 PubMed:8664907, ECO:0000269 PubMed:8740918, ECO:0000269 PubMed:9026534, ECO:0000269 PubMed:9104431, ECO:0000269 PubMed:9143924, ECO:0000269 PubMed:9254862, ECO:0000269 PubMed:9259195, ECO:0000269 PubMed:9452094, ECO:0000269 PubMed:9452095, ECO:0000269 PubMed:9452118, ECO:0000269 PubMed:9654205, ECO:0000269 PubMed:9678702, ECO:0000269 PubMed:9852677, ECO:0000269 Ref.71}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for LDLR Gene
familial hypercholesterolemia,hyperlipoproteinemia,type IIa,characterized by a selective increase of LDL particles in plasma giving rise to tendon and skin xanthomas,arcus corneae and premature mortality from cardiovascular complications,autosomal dominant with a gene dosage effect and a more severe phenotype in homozygotes
Additional Disease Information for LDLR
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for LDLR Gene
- Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. (PMID: 20145306) Chmara M … Limon J (Journal of applied genetics 2010) 3 22 44 58
- Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 22 44 58
- Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia. (PMID: 20065615) Real JT … Carmena R (Journal of atherosclerosis and thrombosis 2009) 3 22 44 58
- Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. (PMID: 19318025) Alonso R … Mata P (Clinical biochemistry 2009) 3 4 44 58
- The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PMID: 19319977) Abifadel M … Boileau C (Human mutation 2009) 3 4 44 58
Products for LDLR Gene
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- RC200006L1V
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- VectorBuilder custom plasmid, inducible vectors for LDLR
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral,