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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-hydro... See more...
Aliases for LDLR Gene
Aliases for LDLR Gene
External Ids for LDLR Gene
- HGNC: 6547
- NCBI Entrez Gene: 3949
- Ensembl: ENSG00000130164
- OMIM®: 606945
- UniProtKB/Swiss-Prot: P01130
Previous GeneCards Identifiers for LDLR Gene
- GC19P011331
- GC19P011045
- GC19P011061
- 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, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Statin Pathway and Metabolism of water-soluble vitamins and cofactors. 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 VLDLR.
UniProtKB/Swiss-Prot Summary 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
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LDLR Gene
Genomics for LDLR Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LDLR Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDLR
- Top Transcription factor binding sites by QIAGEN in the LDLR gene promoter:
-
- AP-1
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- C/EBPbeta
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for LDLR Gene
Latest Assembly
- chr19:11,089,432-11,133,820
- (GRCh38/hg38)
- Size:
- 44,389 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:11,200,139-11,244,496
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 44,358 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 HGNC
- 19p13.2 by Entrez Gene
- 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 C.difficile toxin TcdA, suggesting that it may contribute to TcdA toxin entry into cells.
- (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.
- (Microbial infection) May interact with HIV-1 Tat.
- SequenceCaution:
-
- Sequence=BAD92646.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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 Asn156, Asn97, Asn272, Asn515, Asn657, Asn665, Thr721, Ser732, Ser733, Thr724, Thr734, Ser725, Thr726, Thr738, Thr741, Thr742, Thr743, and Ser750
- NX_P01130 (NX_P01130-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- LDLR_HUMAN (343)
Other Protein References for LDLR Gene
Antibodies for research
- LifeSpan BioSciences LDLR / LDL Receptor Antibody (LS-B1598) and LDLR / LDL Receptor Antibody (LS-B10039)
- G Biosciences Immunotag™ LDLR Antibody
- NSJ Bioreagents LDLR Antibody / LDL Receptor (Rabbit Monoclonal)
- Novus Biologicals Antibodies for LDLR
-
Abcam antibodies for LDLR
- Invitrogen Antibodies for LDLR (AFLGC-LDLR)
- antibodies-online: Show 68 available LDLR Antibodies ranked by validation data
- Compare Top LDLR Antibodies
-
Recommended
- 145 WB Antibodies (anti-human)
- 28 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 1 PhD Antibody (anti-human)
- 54 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 11 FACS 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)
-
Custom Antibody ServicesProSci Antibodies for LDLR
-
Santa Cruz Biotechnology (SCBT) Antibodies for LDLR
- Sino Biological Antibodies for LDLR
Protein products for research
- G Biosciences Human LDLR/Low-density lipoprotein receptor, Lyophilized
- 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
-
Abcam proteins for LDLR
Assay products for research
- RayBiotech Human LDL R ELISA
- Novus Biologicals ELISA Kits for LDLR
- antibodies-online: Show 64 available LDLR Elisa Kits ranked by validation data
- Compare Top LDLR Elisa Kits
-
Quality Products:
- ABIN1115806
- ABIN2691137
- ABIN414516
- ABIN2345050
- ABIN4993149
- ABIN1029148
- ABIN2703289
- ABIN5521062
- ABIN5510704
- ABIN5668636
- ABIN424552
- ABIN1884435
- ABIN5521063
- ABIN5510705
- ABIN1571001
- ABIN628079
- ABIN5656488
- ABIN2536172
- ABIN2949180
- ABIN6205529
- ABIN577805
- ABIN5521064
- ABIN5519291
- ABIN627265
- ABIN5592309
- ABIN5674696
- ABIN2949181
- ABIN5070422
- ABIN1140974
- ABIN993553
- ABIN1140971
- 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
Protein Domains for LDLR Gene
- InterPro:
- Blocks:
-
- Aspartic acid and asparagine hydroxylation site
- EGF-like calcium-binding
- Low density lipoprotein-receptor, class A
- Low-density lipoprotein receptor, YWTD repeat
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 | ISS | -- |
| GO:0001618 | virus receptor activity | IEA | -- |
| GO:0002020 | protease binding | IPI | 22081141 |
| GO:0005041 | low-density lipoprotein particle receptor activity | IMP,TAS | 20005821 |
| GO:0005509 | calcium ion binding | IEA | -- |
Phenotypes for LDLR Gene
- MGI mutant phenotypes for LDLR:
-
inferred from 7 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for LDLR:
-
- Reduced mammosphere formation
- no effect
- Decreased viability
- Dynamic nuclei (hole, folded or small irregular)
- Decreased vaccinia virus (VACV) infection
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage; decreased viability in glioblastoma multiforme (GBM) lineage
- Increased HPV16-GFP infection
- Increased viability after borna disease (rVSVΔG*/BDVG) virus infection
- Decreased free cholesterol
- Decreased LDL uptake
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LDLR - Starting at $85 >
- * LDLR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LDLR
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDLR
miRNA for LDLR Gene
- miRTarBase miRNAs that target LDLR
-
- hsa-miR-130a-3p (MIRT007140)
- mmu-miR-301b-3p (MIRT008034)
- mmu-miR-223-3p (MIRT009723)
- mmu-miR-19b-3p (MIRT012526)
- 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)
- mmu-miR-1941-5p (MIRT582706)
- mmu-miR-3090-3p (MIRT582707)
- mmu-miR-345-3p (MIRT595888)
- 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 for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for LDLR - Starting at $45 >
- * LDLR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210998
- MR210998
- MR210998L1
- MR210998L2
- MR210998L3
- MR210998L4
- MR231194
- MR231271
- RC200006
- RC200006L1
- RC200006L2
- RC200006L3
- RC200006L4
- RC230883
- RC230883L3
- RC230883L4
- RC231372
- RC231372L1
- RC231372L2
- RC231372L3
- RC231372L4
- RC231378
- RC231378L3
- RC231378L4
- RC231397
- RC231397L3
- RC231397L4
- RC231420
- RC231420L3
- RC231420L4
- RG200006
- RG230883
- RG231372
- RG231378
- RG231397
- RG231420
- RR212947
- RR212947L3
- RR212947L4
- MR210998L1V
- MR210998L2V
- MR210998L3V
- MR210998L4V
- RC200006L1V
- RC200006L2V
- RC200006L3V
- RC200006L4V
- RC230883L3V
- RC230883L4V
- RC231372L1V
- RC231372L2V
- RC231372L3V
- RC231372L4V
- RC231378L3V
- RC231378L4V
- RC231397L3V
- RC231397L4V
- RC231420L3V
- RC231420L4V
- RR212947L3V
- RR212947L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LDLR
- Addgene plasmids for LDLR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LDLR
Cell Lines for research
-
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 |
| endosome | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| extracellular | 4 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| mitochondrion | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA,IDA | 15166224 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IEA,IDA | 15166224 |
| GO:0005770 | late endosome | IEA,IDA | 17461796 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 17461796 |
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 |
.41
|
|
| 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
10 KEGG pathways for LDLR Gene
3 GeneGo (Thomson Reuters) pathways for LDLR Gene
- Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
- Immune response Oncostatin M signaling via MAPK in human cells
- Transcription Ligand-dependent activation of the ESR1/SP pathway
1 R&D Systems pathway for LDLR Gene
1 Qiagen pathway for LDLR Gene
- SREBP Proteolysis
Interacting Proteins for LDLR Gene
Selected Interacting proteins:
P01130-LDLR_HUMAN
ENSP00000454071
for LDLR Gene via
UniProtKB
MINT
STRING
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 | IEA,TAS | 12671190 |
| GO:0006898 | receptor-mediated endocytosis | TAS | 24825898 |
| GO:0006909 | phagocytosis | ISS | -- |
Drugs & Compounds for LDLR Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Atorvastatin | Approved | Pharma | 928 | |||
| Lovastatin | Approved, Investigational | Pharma | HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor | 83 | ||
| Pravastatin | Approved | Pharma | 170 | |||
| Rosuvastatin | Approved | Pharma | 0 | |||
| Tocopherol | Approved, Investigational | Pharma | Carrier, binder | 562 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Porfimer |
|
87806-31-3 |
|
(1) Tocris Compounds for LDLR Gene
| Compound | Action | Cas Number |
|---|---|---|
| COG 133 | ApoE peptide fragment | 514200-66-9 |
Transcripts for LDLR Gene
mRNA/cDNA for LDLR Gene
- 6 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000252444 5337 nts (view in UCSC)
- ENST00000455727 2333 nts (view in UCSC)
- ENST00000535915 2768 nts (view in UCSC)
- ENST00000545707 2429 nts (view in UCSC)
- ENST00000557933 2941 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LDLR - Starting at $85 >
- * LDLR CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LDLR
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDLR
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for LDLR - Starting at $45 >
- * LDLR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210998
- MR210998
- MR210998L1
- MR210998L2
- MR210998L3
- MR210998L4
- MR231194
- MR231271
- RC200006
- RC200006L1
- RC200006L2
- RC200006L3
- RC200006L4
- RC230883
- RC230883L3
- RC230883L4
- RC231372
- RC231372L1
- RC231372L2
- RC231372L3
- RC231372L4
- RC231378
- RC231378L3
- RC231378L4
- RC231397
- RC231397L3
- RC231397L4
- RC231420
- RC231420L3
- RC231420L4
- RG200006
- RG230883
- RG231372
- RG231378
- RG231397
- RG231420
- RR212947
- RR212947L3
- RR212947L4
- MR210998L1V
- MR210998L2V
- MR210998L3V
- MR210998L4V
- RC200006L1V
- RC200006L2V
- RC200006L3V
- RC200006L4V
- RC230883L3V
- RC230883L4V
- RC231372L1V
- RC231372L2V
- RC231372L3V
- RC231372L4V
- RC231378L3V
- RC231378L4V
- RC231397L3V
- RC231397L4V
- RC231420L3V
- RC231420L4V
- RR212947L3V
- RR212947L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LDLR
- Addgene plasmids for LDLR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LDLR
| 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: |
Relevant External Links for LDLR Gene
- GeneLoc Exon Structure for
- LDLR
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDLR
SOURCE GeneReport for Unigene cluster for LDLR Gene:
Hs.213289Evidence on tissue expression from TISSUES for LDLR Gene
- Nervous system(4.9)
- Lung(4.5)
- Liver(4.4)
- Bone marrow(4.2)
- Pancreas(3.1)
- Intestine(2.9)
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 for research
-
OriGene qPCR primer pairs for LDLR
-
OriGene qPCR primer pairs and template standards for LDLR
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LDLR 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LDLR 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ldlr 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ldlr 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | LDLR 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LDLR 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 30 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | LDLR 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495826 29 |
|
||
| Str.17411 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397757 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ldlra 29 |
|
||
| ldlr 30 |
|
OneToMany | |||
| LDLR (3 of 3) 30 |
|
OneToMany | |||
| LDLR (1 of 3) 30 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.34 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4861 31 |
|
|
|
| LpR1 30 |
|
ManyToMany | |||
| LpR2 30 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | T13C2.6 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
ManyToMany |
- Species where no ortholog for LDLR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for LDLR
Paralogs for LDLR Gene
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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDLR Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1007707 | Uncertain Significance: Familial hypercholesterolemia | 11,105,275(+) |
T/TGCCA NM_000527.5(LDLR):c.369_370insGCCA (p.Arg124fs) |
FRAMESHIFT_VARIANT,INTRON | |
| 1008168 | Uncertain Significance: Familial hypercholesterolemia | 11,120,204(+) |
TT/CC NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala) |
MISSENSE | |
| 1009215 | Uncertain Significance: Familial hypercholesterolemia | 11,102,786(+) |
C/CGT NM_000527.5(LDLR):c.313+1_313+2dup |
SPLICE_DONOR_VARIANT,INTRON | |
| 1012924 | Likely Benign: not provided | 11,113,682(+) |
T/C NM_000527.5(LDLR):c.1506T>C (p.Asp502=) |
SYNONYMOUS | |
| 1012925 | Uncertain Significance: not provided | 11,116,099(+) |
T/A NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDLR Gene
Disorders for LDLR Gene
