My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    LDLR low density lipoprotein receptor [ Homo sapiens ]

    Gene ID: 3949, updated on 5-Feb-2012
    Help top of page

    Summary

    Official Symbol
    LDLRprovided by HGNC
    Official Full Name
    low density lipoprotein receptorprovided by HGNC
    Primary source
    HGNC:6547
    See related
    Ensembl:ENSG00000130164; HPRD:06091; MIM:606945; Vega:OTTHUMG00000171935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FH; FHC; LDLCQ2
    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]
    Help top of page

    Genomic context

    Location :
    19p13.2
    Sequence :
    Chromosome: 19; NC_000019.9 (11200038..11244506)
    See LDLR in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 52 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Neighboring gene SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) Neighboring gene KN motif and ankyrin repeat domains 2

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Role of ubiquitination in PCSK9-mediated low-density lipoprotein receptor degradation. Chen Y, et al. Biochem Biophys Res Commun, 2011 Nov 25. PMID 22074827.
    2. New contributions to the study of common double mutants in the human LDL receptor gene. Tejedor MT, et al. Naturwissenschaften, 2011 Nov. PMID 21935675.
    3. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. Diakou M, et al. Eur J Intern Med, 2011 Oct. PMID 21925044.
    4. Influence of the combination of low-density lipoprotein receptor and interleukin 28B genotypes on lipid plasma levels in HIV/hepatitis C-coinfected patients. Neukam K, et al. J Acquir Immune Defic Syndr, 2011 Dec 1. PMID 21876443.
    5. Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. Sanna S, et al. PLoS Genet, 2011 Jul. PMID 21829380.

    See all (490) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Most of the FH patients investigated carried two of these four LDLR variants simultaneously, while only one patient carried three of them simultaneously
      Title: New contributions to the study of common double mutants in the human LDL receptor gene.
    2. The ARH gene encodes for the LDLR adaptor protein. This protein contains a phosphotyrosin binding domain for LDLR binding [7] and [27]. The binding of LDLR adaptor protein to LDLR is essential for the LDLR mediated endocytosis of LDL particles.
      Title: Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
    3. these data suggest that the ubiquitination system is involved in PCSK9-induced LDLR degradation.
      Title: Role of ubiquitination in PCSK9-mediated low-density lipoprotein receptor degradation.
    4. The point mutation on exon 3 and exon 4 of LDLR gene was the most common. PCR is useful for the detection of large re-arrangements in the LDL-receptor gene and is a rapid and reliable method for diagnosis of familial hypercholesterolemia.
      Title: Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia.
    5. Phaleria macrocarpa fruit aqueous extract reduced body weight/improved blood lipid profile of hypercholesterolemic rats. The improvement is likely to be regulated by LDL receptor and PCSK9.
      Title: Phaleria macrocarpa (Scheff.) Boerl fruit aqueous extract enhances LDL receptor and PCSK9 expression in vivo and in vitro.
    6. Low-density lipoprotein receptors and IL-28B genotypes had a complementary effect with respect to the plasma levels of total cholesterol and low-density lipoproteins, with no influence on plasma levels of high-density lipoproteins and triglycerides.
      Title: Influence of the combination of low-density lipoprotein receptor and interleukin 28B genotypes on lipid plasma levels in HIV/hepatitis C-coinfected patients.
    7. We found that in three loci (PCSK9, APOE, and LDLR) there were additional variants independently associated with LDL-C.
      Title: Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
    8. The change of amino acid Glu to Gly in LDLR is responsible for familial hypercholesterolemia in this family.
      Title: [A genetic and clinical study in a family with familial hypercholesterolemia].
    9. Our results indicate that mutations localized in the promoter regulatory elements R2 and R3 are associated with familial hypercholesterolemia, whereas mutations outside the LDLR response elements are not a cause of familial hypercholesterolemia.
      Title: Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
    10. Deletion of Low Density Lipoprotein Receptor gene in mice leads to severely elevated lipid levels and increased atherosclerosis providing a model for type 1 diabetic macrovascular disease.
      Title: Hyperglycemic Ins2AkitaLdlr⁻/⁻ mice show severely elevated lipid levels and increased atherosclerosis: a model of type 1 diabetic macrovascular disease.
    Submit: New GeneRIF Correction See all (235)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at 30 loci contribute to polygenic dyslipidemia.

    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

    Hypercholesterolemia, familial

    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

    LDL cholesterol level QTL2

    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

    Help top of page

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef expression in Jurkat cells upregulates LDLR, which is involved in cholesterol uptake PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P01130 Q9Y6Q5 AP1M2    HPRD  PubMed  
    P01130 P04114 APOB    HPRD  PubMed  
    P01130 P02649 APOE    HPRD  PubMed  
    P01130 O75553 DAB1    HPRD  PubMed  
    P01130 P11021 HSPA5    HPRD  PubMed  
    P01130 P01130 LDLR    HPRD  PubMed  
    P01130 Q5SW96 LDLRAP1    HPRD  PubMed  
    P01130 P30533 LRPAP1    HPRD  PubMed  
    P01130 Q8NBP7 PCSK9    HPRD  PubMed  
    P01130 P02776 PF4    HPRD  PubMed  
    P01130 Q15036 SNX17    HPRD  PubMed  
    BioGRID:110141 BioGRID:115364 AP1M2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110141 BioGRID:107386 CD36    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110141 BioGRID:107970 DAB1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110141 BioGRID:107971 DAB2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110141 BioGRID:109541 HSPA5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110141 BioGRID:117561 LDLRAP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110141 BioGRID:110221 LRPAP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110141 BioGRID:118882 MYLIP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:110141 BioGRID:111219 PF4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110141 BioGRID:115128 SNX17    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110141 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
    • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
      DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Selenium Pathway, organism-specific biosystem (from WikiPathways)
      Selenium Pathway, organism-specific biosystem
      Selenium Pathway
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Wnt Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell pluri...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    low-density lipoprotein receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    very-low-density lipoprotein particle receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cholesterol import ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
    		  
    intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
    		  
    low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    phospholipid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of triglyceride biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    		  
    regulation of phosphatidylcholine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    low-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
    		  
    lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    low-density lipoprotein receptor
    Names
    low-density lipoprotein receptor
    LDL receptor
    low-density lipoprotein receptor class A domain-containing protein 3
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009060.1 RefSeqGene

      Range
      4982..49450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_274

    mRNA and Protein(s)

    1. NM_000527.4 → NP_000518.1  low-density lipoprotein receptor isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011485, AY114155, BM785950, DC306821
      Consensus CDS
      CCDS12254.1
      UniProtKB/Swiss-Prot
      P01130
      Related
      ENSP00000454071, OTTHUMP00000247210, ENST00000558518, OTTHUMT00000415973
      Conserved Domains (4) summary
      cd00112
      Location:197 – 231
      Blast Score: 124
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl00104
      Location:278 – 308
      Blast Score: 110
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:354 – 388
      Blast Score: 104
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:529 – 569
      Blast Score: 166
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    2. NM_001195798.1 → NP_001182727.1  low-density lipoprotein receptor isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB209409, AC011485, BM785950, DC306821
      UniProtKB/TrEMBL
      H0YLU8
      UniProtKB/TrEMBL
      Q59FQ1
      Related
      ENSP00000453346, OTTHUMP00000247209, ENST00000558013, OTTHUMT00000415972
      Conserved Domains (4) summary
      cd00112
      Location:197 – 231
      Blast Score: 124
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl00104
      Location:278 – 308
      Blast Score: 110
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:354 – 388
      Blast Score: 104
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:529 – 569
      Blast Score: 166
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    3. NM_001195799.1 → NP_001182728.1  low-density lipoprotein receptor isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC011485, AK300313, BM785950, DC306821
      Consensus CDS
      CCDS56085.1
      UniProtKB/TrEMBL
      B4DTQ3
      Related
      ENSP00000440520, OTTHUMP00000247206, ENST00000535915, OTTHUMT00000415969
      Conserved Domains (4) summary
      cd00112
      Location:156 – 190
      Blast Score: 126
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl00104
      Location:237 – 267
      Blast Score: 111
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:313 – 347
      Blast Score: 105
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:488 – 528
      Blast Score: 165
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    4. NM_001195800.1 → NP_001182729.1  low-density lipoprotein receptor isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC011485, AK299038, BM785950, DC306821
      Consensus CDS
      CCDS56084.1
      UniProtKB/TrEMBL
      B4DR00
      Related
      ENSP00000397829, OTTHUMP00000247212, ENST00000455727, OTTHUMT00000415976
      Conserved Domains (4) summary
      cd00054
      Location:186 – 218
      Blast Score: 98
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00112
      Location:27 – 58
      Blast Score: 122
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:167 – 189
      Blast Score: 87
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:361 – 401
      Blast Score: 164
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    5. NM_001195802.1 → NP_001182731.1  low-density lipoprotein receptor isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AC011485, AK295612, BM785950, DC306821
      UniProtKB/TrEMBL
      B4DII3
      UniProtKB/TrEMBL
      H0YNT7
      Related
      ENSP00000454147, OTTHUMP00000247208, ENST00000561343, OTTHUMT00000415971
      Conserved Domains (3) summary
      cd00112
      Location:76 – 110
      Blast Score: 131
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:233 – 267
      Blast Score: 109
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:408 – 448
      Blast Score: 164
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    6. NM_001195803.1 → NP_001182732.1  low-density lipoprotein receptor isoform 6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC011485, AK296312, BM785950, DC306821
      Consensus CDS
      CCDS56083.1
      UniProtKB/TrEMBL
      B4DJZ8
      Related
      ENSP00000437639, OTTHUMP00000247207, ENST00000545707, OTTHUMT00000415970
      Conserved Domains (4) summary
      cd00054
      Location:227 – 259
      Blast Score: 97
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00112
      Location:109 – 143
      Blast Score: 124
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl09941
      Location:208 – 230
      Blast Score: 86
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cl10508
      Location:402 – 442
      Blast Score: 164
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      11200038..11244506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      10777128..10820847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC011485.6 (46160..74547) None
    genomic AF217403.1 AAF24515.1
    genomic AY324609.1 AAP72971.1
    genomic AY504954.1 AAR98971.1
    genomic CH471106.1 EAW84168.1
      EAW84169.1
      EAW84170.1
      EAW84171.1
      EAW84172.1
    genomic CS173038.1 CAJ33700.1
    genomic FJ525879.1 ACN81317.1
    genomic L00352.1 AAA56833.1
    genomic L29401.1 AAA56833.1
    genomic U59436.1 AAB02658.1
    mRNA AA292214.1 None
    mRNA AB209409.1 BAD92646.1
    mRNA AK295612.1 BAG58495.1
    mRNA AK296312.1 BAG59010.1
    mRNA AK299038.1 BAG61112.1
    mRNA AK300313.1 BAG62065.1
    mRNA AY114155.1 AAM56036.1
    mRNA BC014514.1 AAH14514.1
    mRNA BM785950.1 None
    mRNA BT007361.1 AAP36025.1
    mRNA BX648281.1 None
    mRNA DA008286.1 None
    mRNA DB081391.1 None
    mRNA DC306821.1 None
    mRNA M28219.1 AAA59509.1
    mRNA S40543.1 AAB22609.2
    mRNA S70123.1 AAB30338.2
    other-genetic DQ893879.2 ABM84805.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P01130.1 GenPept UniProtKB/Swiss-Prot:P01130
    Q16479 GenPept UniProtKB/TrEMBL:Q16479
    Q59FQ1 GenPept UniProtKB/TrEMBL:Q59FQ1
    Q6LCH2 GenPept UniProtKB/TrEMBL:Q6LCH2
    Q6RCM4 GenPept UniProtKB/TrEMBL:Q6RCM4
    Q9UH51 GenPept UniProtKB/TrEMBL:Q9UH51
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...