LDLRProteinsRegulator of the LDL receptorLipoproteinsMutationsGeneClathrin-coated pitsApoEDegradationStructurally homologousCholesterolOxidized low-density lipDensity lipoprotein receptorIntracellularSingle transmembrane domainVLDLMoleculeEndoplasmic reticulumResiduesTransmembrane proteinRepeatsBindsLigandsEndocytosisOLR1Plasma membraneMiceConformationMutationPCSK9LipidsInsulin receptorExtracellular domainNETO1InteractionTyrosine kinaseInhibitionExonMegalinMembraneOrganizationNMDARHormoneInitiatesAminoGenesCoiled-coil domainPrecursorSequenceCell
LDLR6
- In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19. (wikipedia.org)
- Individuals with disruptive mutations (defined as nonsense, splice site, or indel frameshift) in LDLR have an average LDL-cholesterol of 279 mg/dL, compared with 135 mg/dL for individuals with neither disruptive nor deleterious mutations. (wikipedia.org)
- This protein belongs to the LDLR family and is made up of a number of functionally distinct domains, including 3 EGF-like domains, 7 LDL-R class A domains, and 6 LDL-R class B repeats. (wikipedia.org)
- These modules include a putative signal peptide for protein export, four epidermal growth factor (EGF) repeats with associated spacer domains, three LDL-receptor (LDLR) repeats, a single transmembrane spanning domain, and a cytoplasmic domain. (nih.gov)
- We previously identified the E3 ubiquitin ligase IDOL as a sterol-dependent regulator of the LDL receptor (LDLR). (kent.ac.uk)
- Mice that are homozygous for a targeted disruption of the LDL receptor gene (LDLR-/- mice) were fed a diet that contained 1.25% cholesterol, 7.5% cocoa butter, 7.5% casein, and 0.5% cholic acid. (jci.org)
Proteins21
- Combining our simulations with available structural data from different laboratories, we have defined a consensus-binding site for the interaction of the LA5 repeat with LDL-r partner proteins and have found that most (16) of the 17 stable FH mutations occur at binding site residues. (upf.edu)
- There are 282922 EGF_CA domains in 60844 proteins in SMART's nrdb database. (embl.de)
- Taxonomic distribution of proteins containing EGF_CA domain. (embl.de)
- The complete taxonomic breakdown of all proteins with EGF_CA domain is also avaliable . (embl.de)
- Click on the protein counts, or double click on taxonomic names to display all proteins containing EGF_CA domain in the selected taxonomic class. (embl.de)
- Structural Diversity and Dynamics of Human Three-Finger Proteins Acting on Nicotinic Acetylcholine Receptors. (nih.gov)
- There are 308772 RING domains in 276130 proteins in SMART's nrdb database. (embl-heidelberg.de)
- What is the function of receptor proteins in the cell membrane? (rhumbarlv.com)
- Receptors are generally transmembrane proteins, which bind to signaling molecules outside the cell and subsequently transmit the signal through a sequence of molecular switches to internal signaling pathways. (rhumbarlv.com)
- What are receptor proteins simple definition? (rhumbarlv.com)
- Receptors are a special class of proteins that function by binding a specific ligand molecule. (rhumbarlv.com)
- How are receptor proteins located in the cell membrane? (rhumbarlv.com)
- What are receptor proteins examples? (rhumbarlv.com)
- Many receptors and their associated ligands cluster into clathrin-coated pits by association with clathrin adaptor proteins such as the four-subunit complex AP2. (wormbook.org)
- Trafficking of yolk and yolk receptors also depends critically upon the activities of the endocytic Rab proteins RAB-5 , RAB-7 , and RAB-11 , known modulators of endocytosis in all eukaryotes ( Grant and Hirsh, 1999 ). (wormbook.org)
- It's a member of the LDL receptor family, which plays various different roles related to enzyme activation, the entry of bacterial toxins and viruses into cells, and the metabolism of a proteins that transport and combine with fats in the blood . (todayspractitioner.com)
- G protein-coupled receptors (GPCRs) constitute a large family of integral transmembrane receptor proteins that play a central role in signal transduction in eukaryotes. (biomedcentral.com)
- These sites provide interaction of the βN-domains with different proteins and cells and their participation in various processes including fibrin assembly, fibrin-dependent angiogenesis, and fibrin-dependent leukocyte transmigration and thereby inflammation. (ukrbiochemjournal.org)
- A group of proteins and polyamino acids with positively charged domains were shown to inhibit the binding of 125 I-LDL to its receptor on the surface of human fibroblasts. (elsevierpure.com)
- Two other positively charged proteins, lysozyme and avidin, did not inhibit 125 I-LDL binding. (elsevierpure.com)
- The intact receptor lacks tyrosine kinase activity, but binding of GH and dimerization results in association with JAK2, a member of the Janus kinase family, which results in self-phosphorylation of the JAK2 and a cascade of phosphorylation of cellular proteins. (medscape.com)
Regulator of the LDL receptor1
- 09-20-22 Just published in Science Translational Medicine Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor . (harvard.edu)
Lipoproteins4
- The majority and most severe FH cases are associated to mutations in the receptor for low-density lipoproteins receptor (LDL-r), but the molecular basis explaining the connection between mutation and phenotype is often unknown, which hinders early diagnosis and treatment of the disease. (upf.edu)
- APOE serves as a ligand for members of low-density lipoprotein (LDL) receptor family and is involved in the removal of lipoproteins from the circulation for excretion in the liver. (dovepress.com)
- APOE is a 299 amino acid plasma glycoprotein associated with LDL, VLDL, and high-density lipoproteins (HDL). (dovepress.com)
- 1,500 mg/dl, associated with a marked increase in VLDL, intermediate density lipoproteins (IDL), and LDL cholesterol, and a decrease in HDL cholesterol. (jci.org)
Mutations8
- We have used atomistic simulations to explore the complete SNP mutational space (227 mutants) of the LA5 repeat, the key domain for interacting with LDL that is coded in the exon concentrating the highest number of mutations. (upf.edu)
- Mutations in the gene encoding the LDL receptor are known to cause familial hypercholesterolaemia. (wikipedia.org)
- There are 5 broad classes of mutation of the LDL receptor: Class 1 mutations affect the synthesis of the receptor in the endoplasmic reticulum (ER). (wikipedia.org)
- Class 2 mutations prevent proper transport to the Golgi body needed for modifications to the receptor. (wikipedia.org)
- SwissProt sequences and OMIM curated human diseases associated with missense mutations within the EGF_CA domain. (embl.de)
- Familial Hypercholesterolemia results from mutations in the LDL receptor, ApoB, PCSK9, and ApoE genes. (hindawi.com)
- The borrowing between delivery( EFN) drugs and cyclin Mutations rights positively all in Once gardening through the EPH domain, but also in' gene' enhancing through the EFN region itself. (familie-vos.de)
- Heterozygous IGF-I receptor mutations have no or mild-to-moderate effect on brain development, but they do result in intrauterine growth retardation. (medscape.com)
Gene6
- It belongs to the low density lipoprotein receptor gene family. (wikipedia.org)
- The gene, termed low-density lipoprotein receptor related protein 5 (LRP5), encodes a protein of 1615 amino acids that contains conserved modules which are characteristic of the low-density lipoprotein (LDL) receptor family. (nih.gov)
- LDL receptor-related protein 1: unique tissue-specific functions revealed by selective gene knockout studies. (todayspractitioner.com)
- The Rhodopsin family accounts for ~68% of the Ciona GPCR repertoire wherein the LGR-like subfamily exhibits a lineage specific gene expansion of a group of receptors that possess a novel domain organisation hitherto unobserved in metazoan genomes. (biomedcentral.com)
- The androgen receptor (AR) is a ligand-dependent transcription factor that promotes prostate cancer (PC) cell growth through control of target gene expression. (oncotarget.com)
- IGF-I deficiency can be the result of GH resistance or insensitivity due to genetic disorders of the GH receptor causing GH receptor deficiency (growth hormone receptor deficiency [GHRD], Laron syndrome) or postreceptor defects, including the principal transduction agent STAT5b, the IGF-I/IGFBP3 stabilizer acid labile subunit (ALS), the IGF-I gene, or the IGF-I receptor. (medscape.com)
Clathrin-coated pits3
- The cytosolic C-terminal domain contains ~50 amino acids, including a signal sequence important for localizing the receptors to clathrin-coated pits and for triggering receptor-mediated endocytosis after binding. (wikipedia.org)
- RME-2 contains a typical NPXY internalization motif in its intracellular domain that is known to direct other members of the LDL-receptor family into clathrin-coated pits. (wormbook.org)
- Clathrin and cargo molecules are assembled into clathrin-coated pits on the plasma membrane together with an adaptor complex called AP-2 that links clathrin with transmembrane receptors, concluding in the formation of mature clathrin-coated vesicles (CCVs). (wormbook.org)
ApoE3
- The receptor also recognizes apolipoprotein E (ApoE) which is found in chylomicron remnants and IDL. (wikipedia.org)
- APOE binds to cell-surface receptors to deliver lipids and to the hydrophobic amyloid-β peptide, regulating amyloid-β aggregations and clearances in the brain. (dovepress.com)
- This receptor family includes seven family members that are closely related and include the LDL receptor, very low density lipoprotein (VLDL) receptor, apoE receptor 2, multiple epidermal growth factor-like domains 7 (MEGF7), glycoprotein 330 (gp330/megalin/LRP2), LRP1 and LRP1B. (todayspractitioner.com)
Degradation4
- This precludes the movement of the receptor from the ER to the Golgi, and leads to degradation of the receptor protein. (wikipedia.org)
- The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor. (kent.ac.uk)
- Autophagy is a kind of catabolism in which cellular components such as ox-LDL are targeted and transferred to lysosomes for degradation [ 8 ]. (biomedcentral.com)
- After binding to the complex low-density lipoprotein (LDL)-receptor, PCSK9 induces its intracellular degradation, thus reducing serum LDL clearance. (dehradunmail.in)
Structurally homologous2
- LRP1 is a member of the LDL receptor family, which contains several structurally homologous receptors that are composed of modular structures. (todayspractitioner.com)
- IGF binding involves 3 basic types of receptors: the structurally homologous insulin receptor and type 1 IGF receptor and the distinctive type 2 IGF-II/mannose-6-phosphate receptor. (medscape.com)
Cholesterol11
- The low-density lipoprotein receptor (LDL-R) is a mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) that mediates the endocytosis of cholesterol-rich low-density lipoprotein (LDL). (wikipedia.org)
- Michael S. Brown and Joseph L. Goldstein were awarded the 1985 Nobel Prize in Physiology or Medicine for their identification of LDL-R and its relation to cholesterol metabolism and familial hypercholesterolemia. (wikipedia.org)
- Disruption of LDL-R can lead to higher LDL-cholesterol as well as increasing the risk of related diseases. (wikipedia.org)
- The nuclear hormone receptors liver X receptor α (LXRα) and LXRβ function as physiological receptors for oxidized cholesterol metabolites (oxysterols) and regulate several aspects of cholesterol and lipid metabolism. (aspetjournals.org)
- YP170-GFP, like endogenous yolk, is a cholesterol binding/transport protein related to human ApoB-100, the major protein component of serum low-density lipoprotein (LDL). (wormbook.org)
- Attainment of LDL Cholesterol Treatment Goals in Children and Adolescents With Familial Hypercholesterolemia. (revespcardiol.org)
- Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. (revespcardiol.org)
- PCSK9 is integrally involved in the regulation of LDL-cholesterol. (dehradunmail.in)
- Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. (jci.org)
- Metabolic characteristics include hypoglycemia (fasting), increased cholesterol and LDL-C levels, and decreased sweating. (medscape.com)
- The Niemann-Pick group of diseases can be subclassified into two categories: (1) those with a primary deficiency in acid sphingomyelinase (ASM) activity (ie, types A and B) and (2) those with defective intracellular processing and transporting of low-density lipoprotein (LDL)-derived cholesterol (ie, type C). (medscape.com)
Oxidized low-density lip1
- Human THP-1 monocyte-derived macrophages were established by challenging THP-1 monocytes with 80 µg/ml oxidized low-density lipoprotein (ox-LDL) for specific durations. (biomedcentral.com)
Density lipoprotein receptor3
- relationship between vitamin D and low-density lipoprotein receptor-related protein (LRP-1) has revealed that the two may work together to possibly clear amyloid-beta (Aβ), a deposition that is linked to the progression of neurological dysfunction. (todayspractitioner.com)
- Among Aβ scavenger receptors, low density lipoprotein receptor related protein ( LRP-1 ) has been most extensively studied. (todayspractitioner.com)
- Here, we report that in AD patients and two mouse models of AD, overexpression of serum response factor (SRF) and myocardin (MYOCD) in cerebral vascular smooth muscle cells (VSMCs) generates an Aβ non-clearing VSMC phenotype through transactivation of sterol regulatory element binding protein-2, which downregulates low density lipoprotein receptor-related protein-1, a key Aβ clearance receptor. (nature.com)
Intracellular1
- The diversity among GPCRs primarily stem from the presence of characteristic N-terminal extracellular domains and C-terminal intracellular domains and to a relatively lesser extent from the connecting loops which share limited sequence similarity. (biomedcentral.com)
Single transmembrane domain1
- The single transmembrane domain of 22 (mostly) non-polar residues crosses the plasma membrane in a single alpha helix. (wikipedia.org)
VLDL1
- It is a cell-surface receptor that recognizes apolipoprotein B100 (ApoB100), which is embedded in the outer phospholipid layer of very low-density lipoprotein (VLDL), their remnants-i.e. intermediate-density lipoprotein (IDL), and LDL particles. (wikipedia.org)
Molecule5
- Zinc finger (Znf) domains are relatively small protein motifs which contain multiple finger-like protrusions that make tandem contacts with their target molecule. (embl-heidelberg.de)
- Although their folding status is not well understood and the recombinant disulfide-linked (Bβ1-66) 2 fragment corresponding to a pair of these domains was found to be unfolded, some data suggest that these domains may be folded in the parent molecule. (ukrbiochemjournal.org)
- Domains in the fibrinogen molecule. (ukrbiochemjournal.org)
- Medved' LV, Litvinovich SV, Privalov PL. Domain organization of the terminal parts in the fibrinogen molecule. (ukrbiochemjournal.org)
- The GH molecule binds to its specific cell surface receptor (GHR), which dimerizes with another GHR molecule so that the single GH molecule is enveloped by 2 GHR molecules. (medscape.com)
Endoplasmic reticulum1
- Exon 1 contains a signal sequence that localises the receptor to the endoplasmic reticulum for transport to the cell surface. (wikipedia.org)
Residues4
- Each repeat, referred to as a class A repeat or LDL-A, contains roughly 40 amino acids, including 6 cysteine residues that form disulfide bonds within the repeat. (wikipedia.org)
- Among fibrinogen domains, two BβN-domains are formed by the N-terminal portions of its two Bβ chains including- amino acid residues Bβ1-64. (ukrbiochemjournal.org)
- Removal of fibrinopeptides B (amino acid residues Bβ1-14) from these domains upon fibrinogen to fibrin conversion results in the exposure of multiple binding sites in fibrin βN-domains (residues β15-64). (ukrbiochemjournal.org)
- The data support a previously proposed dumb-bell model of nidogen by demonstrating a large N-terminal globular domain (641 residues), five EGF-like repeats constituting the rod-like domain (248 residues) and a smaller C-terminal globule (328 residues). (unifi.it)
Transmembrane protein2
- The LDL receptor is a transmembrane protein of the plasma membrane. (rhumbarlv.com)
- Neuropilin and tolloid-like protein 1 (NETO1), also known as Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1 (BTCL1), is a type I transmembrane protein that is expressed in the brain and retina (1). (bio-techne.com)
Repeats2
- The N-terminal domain of the LDL receptor, which is responsible for ligand binding, is composed of seven sequence repeats (~50% identical). (wikipedia.org)
- The exact mechanism of interaction between the class A repeats and ligand (LDL) is unknown, but it is thought that the repeats act as "grabbers" to hold the LDL. (wikipedia.org)
Binds2
- When a ligand binds to its receptor, the receptor can change conformation, transmitting a signal into the cell. (rhumbarlv.com)
- Several studies also suggest that vitamin D receptor (VDR, the receptor to which vitamin D binds to in the body) deficiency, or inhibition, could be a risk factor for neurodegenerative disease. (todayspractitioner.com)
Ligands2
- Through interaction with specific ligands (e.g., hormones and neurotransmitters), the receptors facilitate communication between the cell and the extracellular environment. (rhumbarlv.com)
- Fibrinogen is a polyfunctional plasma protein involved in various physiological and pathological processes through the interaction of its multiple domains with different ligands and cell receptors. (ukrbiochemjournal.org)
Endocytosis1
- The LDL receptor and transferrin receptors are examples of receptors that function by receptor-mediated endocytosis. (rhumbarlv.com)
OLR11
- Here, we describe an association of the 3′-UTR +1073 C/T polymorphism of the OLR1 (oxidised LDL receptor 1) on chromosome 12 with AD in French sporadic (589 cases and 663 controls) and American familial (230 affected sibs and 143 unaffected sibs) populations. (bmj.com)
Plasma membrane1
- Many receptors then recycle to the plasma membrane either directly or indirectly via recycling endosomes. (wormbook.org)
Mice2
- Beyond that, we are linking metabolism to the heart and describing phenotypes that emerge in a set of known genes, when knocked out in mice, such as the leptin receptor ( Lepr ), leptin ( Lep ), and Bardet-Biedl syndrome 5 ( Bbs5 ). (springer.com)
- We conclude that LDL receptors are largely responsible for the resistance of wild type mice to atherosclerosis. (jci.org)
Conformation1
- A, B and C. A and B are closely linked while C is separated by the YWTD repeat region, which adopts a beta-propeller conformation (LDL-R class B domain). (wikipedia.org)
Mutation1
- 15 Ecuadorian children with GHRD due to homozygosity for the E180 splice mutation of the GH receptor, lined up according to descending age from 15 years to 2 years, with 3 normal children standing behind age mates. (medscape.com)
PCSK92
- Genetic studies have shown that individuals with life-long reduction of LDL-C due to reduced function of PCSK9 have substantially reduced risk of cardiovascular disease. (dehradunmail.in)
- Pharmacological inhibition of PCSK9 substantially lowers LDL-C. ION449 is designed to reduce the liver production of PCSK9 and lower the plasma level of LDL-C and thus reduce the risk of cardiovascular disease. (dehradunmail.in)
Lipids1
Insulin receptor3
- The insulin receptor modulates the cellular response to insulin, through insulin binding to the extracellular domain of the receptor. (rhumbarlv.com)
- In addition to these receptors, hybrid receptors consisting of a dimer from the IGF-I receptor paired with the insulin receptor, are ubiquitous and the respective expression of these receptors varies from tissue to tissue. (medscape.com)
- Although the insulin receptor has a low affinity for IGF-I, IGF-I is present in the circulation at molar concentrations that are 1000 times those of insulin. (medscape.com)
Extracellular domain1
- The 511 amino acid (aa) residue mature human NETO1 contains a 322 aa extracellular domain (ECD) with two CUB domains and one class A LDL-receptor segment, a 21 aa transmembrane domain, and a 168 aa cytosol domain (1). (bio-techne.com)
NETO11
- NETO1 contains one LDL-receptor class A domain and two CUB domains and is either membrane-bound or secreted. (all-antibody.com)
Interaction3
- Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (nih.gov)
- The RING domain is a protein interaction domain that has been implicated in a range of diverse biological processes. (embl-heidelberg.de)
- Gorlatov S, Medved L. Interaction of fibrin(ogen) with the endothelial cell receptor VE-cadherin: mapping of the receptor-binding site in the NH2-terminal portions of the fibrin beta chains. (ukrbiochemjournal.org)
Tyrosine kinase1
- Rabbit polyclonal to SYK.Syk is a cytoplasmic tyrosine kinase of the SYK family containing two SH2 domains.Plays a central role in the B cell receptor (BCR) response. (bioskinrevive.com)
Inhibition1
- The results showed that inhibition of ox-LDL phagocytosis by cytochalasin D in the early stage improved autophagic status, reduced NLRP3 activation and the apoptotic response significantly. (biomedcentral.com)
Exon1
- The previously described modular structure of proenteropeptidease domains, based on primary-structure comparison, correlates with exon boundaries. (medscape.com)
Megalin1
- LDL Receptor-Related Protein 2 (Megalin) as a Target Antigen in Human Kidney Anti-Brush Border Antibody Disease. (bu.edu)
Membrane5
- What are membrane receptors? (rhumbarlv.com)
- Membrane receptors are specialized protein molecules attached to or integrated into the cell membrane. (rhumbarlv.com)
- What is an example of a membrane receptor? (rhumbarlv.com)
- How do membrane receptors produce their effects? (rhumbarlv.com)
- membrane receptors are specialized protein molecules in the membranes of cells, to which external molecules (hormones, neurotransmitters, drugs) attach, triggering changes in the function of the cell. (rhumbarlv.com)
Organization1
- Modular domain organization of LDL receptor family members. (todayspractitioner.com)
NMDAR2
- Furthermore, as an accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR), it regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory. (all-antibody.com)
- It increases the rate of GluK1 receptor desensitization and is a candidate NMDAR auxiliary subunit regulating channel activities and synaptic transmission (3, 4). (bio-techne.com)
Hormone1
- Biological actions of Vitamin D are mediated via its nuclear hormone receptor VDR and is found to regulate many genes. (todayspractitioner.com)
Initiates1
- The pattern recognition receptor CD36 initiates a signaling cascade that promotes microglial activation and recruitment to β-amyloid deposits in the brain. (neuroprobe.com)
Amino2
- MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al. (nih.gov)
- Their binding properties depend on the amino acid sequence of the finger domains and of the linker between fingers, as well as on the higher-order structures and the number of fingers. (embl-heidelberg.de)
Genes1
- Increasing the number of Ca 2+ ions will affect the expression of genes that help reduce LDL levels as an indicator of CHD. (mdpi.com)
Coiled-coil domain1
- coiled-coil domain contain. (gsea-msigdb.org)
Precursor3
- Next to the ligand binding domain is an EGF precursor homology domain (EGFP domain). (wikipedia.org)
- e.g. a truncation of the receptor protein at residue number 660 leads to domains 3,4 and 5 of the EGF precursor domain being missing. (wikipedia.org)
- Weak sequence homologies (25%) were detected between some regions of nidogen, the LDL receptor, thyroglobulin and the EGF precursor. (unifi.it)
Sequence1
- Portions of the cytosolic sequence have been found in other lipoprotein receptors, as well as in more distant receptor relatives. (wikipedia.org)
Cell3
- In some cases the receptors will remain on the surface of the cell and the ligand will eventually diffuse away. (rhumbarlv.com)
- Signaling by the androgen-induced androgen receptor (AR) promotes cell growth of prostate cancer (PC) cells. (oncotarget.com)
- In light of previous data showing that polyanions such as heparin and polyphosphates also inhibit 125 I-LDL binding to its cell surface receptor, the current findings suggest that charge interactions are important in this binding reaction. (elsevierpure.com)