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Study Guide: NPC1L1 Protein: Function, Genetics, and Identifiers

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NPC1L1 Protein: Function, Genetics, and Identifiers Study Guide

NPC1L1: Molecular and Cellular Biology

The protein NPC1L1 is exclusively expressed within the epithelial cells of the human gastrointestinal tract.

Answer: False

Explanation: The protein NPC1L1 is expressed not only in the epithelial cells of the gastrointestinal tract but also in hepatocytes.

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According to Bgee data, NPC1L1 RNA expression is notably high in the human jejunal mucosa.

Answer: True

Explanation: Bgee expression data confirms high levels of NPC1L1 RNA expression in the human jejunal mucosa, among other tissues.

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Gene Ontology assigns NPC1L1 the molecular function of DNA binding.

Answer: False

Explanation: Gene Ontology does not assign DNA binding as a molecular function for NPC1L1; it is associated with functions such as myosin V binding and protein binding.

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The Gene Ontology lists NPC1L1 as being associated with the brush border membrane.

Answer: True

Explanation: Gene Ontology annotations confirm NPC1L1's association with the brush border membrane, a structure characteristic of absorptive epithelial cells.

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NPC1L1's association with myosin V binding suggests it is involved in DNA replication.

Answer: False

Explanation: The association with myosin V binding, a motor protein, suggests NPC1L1's involvement in intracellular transport mechanisms rather than DNA replication.

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NPC1L1 being an integral membrane component means it is only loosely attached to the cell surface.

Answer: False

Explanation: An integral membrane component is embedded within the lipid bilayer, indicating a strong, non-covalent association, rather than being loosely attached.

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The NPC1L1 protein is classified as a mammalian protein found in Homo sapiens.

Answer: True

Explanation: NPC1L1 is indeed classified as a mammalian protein, specifically found in Homo sapiens.

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NPC1L1 expression in the testicle suggests a role solely related to cholesterol absorption.

Answer: False

Explanation: Expression data in tissues like the testicle suggests that NPC1L1 may have functions beyond cholesterol absorption, potentially related to specific tissue physiology.

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Where is the NPC1L1 protein primarily expressed in the human body?

Answer: Epithelial cells of the gastrointestinal tract and hepatocytes

Explanation: The NPC1L1 protein is primarily expressed in the epithelial cells of the gastrointestinal tract and in hepatocytes.

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According to Bgee data, which mouse tissue shows significant NPC1L1 RNA expression?

Answer: Epithelium of the small intestine

Explanation: Bgee data indicates significant NPC1L1 RNA expression in the epithelium of the small intestine in mice, among other tissues.

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Which molecular function is assigned to NPC1L1 by the Gene Ontology?

Answer: Myosin V binding

Explanation: Gene Ontology assigns molecular functions such as myosin V binding and protein binding to NPC1L1.

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Which cellular component is NPC1L1 associated with, according to Gene Ontology?

Answer: Brush border membrane

Explanation: Gene Ontology associates NPC1L1 with cellular components including the brush border membrane, plasma membrane, and integral components of membranes.

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The association of NPC1L1 with the 'apical plasma membrane' suggests its role in:

Answer: Transport across the cell surface facing the lumen

Explanation: Localization to the apical plasma membrane, particularly in intestinal cells, indicates a role in transport processes occurring at the luminal surface.

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NPC1L1: Cholesterol Metabolism and Absorption

NPC1L1 plays a direct role in facilitating the absorption of cholesterol from the digestive system.

Answer: True

Explanation: NPC1L1 is recognized as a critical protein mediating the absorption of dietary cholesterol from the intestinal lumen into enterocytes.

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The Gene Ontology classifies NPC1L1 as being involved in steroid metabolic processes.

Answer: True

Explanation: Gene Ontology annotations confirm NPC1L1's involvement in steroid metabolic processes, among other lipid-related biological processes.

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NPC1L1's presence in hepatocytes is irrelevant to its role in cholesterol metabolism.

Answer: False

Explanation: The presence of NPC1L1 in hepatocytes is highly relevant, as the liver plays a central role in processing cholesterol absorbed from the intestine and regulating systemic cholesterol homeostasis.

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NPC1L1's role in 'intestinal cholesterol absorption' is a key aspect of its function.

Answer: True

Explanation: The classification of NPC1L1 within processes like 'intestinal cholesterol absorption' highlights its fundamental role in mediating the uptake of dietary cholesterol.

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NPC1L1 is involved in cholesterol biosynthesis according to Gene Ontology.

Answer: True

Explanation: Gene Ontology annotations include cholesterol biosynthetic process as one of the biological processes NPC1L1 is involved in.

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What is the main function of NPC1L1 related to cholesterol?

Answer: Facilitating cholesterol absorption from the digestive system

Explanation: The primary function of NPC1L1 is to facilitate the absorption of cholesterol from the digestive tract into the body.

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Which biological process, related to lipids, is NPC1L1 involved in according to Gene Ontology?

Answer: Lipoprotein metabolic process

Explanation: Gene Ontology classifies NPC1L1 as involved in processes such as lipoprotein metabolic process, steroid metabolic process, and cholesterol transport.

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What is the primary implication of NPC1L1 being involved in 'intestinal cholesterol absorption'?

Answer: It is essential for the uptake of dietary cholesterol.

Explanation: Involvement in 'intestinal cholesterol absorption' signifies that NPC1L1 is crucial for the process by which dietary cholesterol is taken up from the gut.

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NPC1L1: Pharmacology and Therapeutic Applications

The medication ezetimibe enhances the function of the NPC1L1 protein.

Answer: False

Explanation: Ezetimibe functions as an inhibitor of the NPC1L1 protein, thereby reducing cholesterol absorption.

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Inhibition of NPC1L1 by ezetimibe typically reduces blood cholesterol levels by about 5% to 10%.

Answer: False

Explanation: The inhibition of NPC1L1 by ezetimibe typically results in a reduction of blood cholesterol levels by approximately 15% to 20%.

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NPC1L1 is identified as a key factor in the cellular entry mechanism of the Hepatitis C Virus.

Answer: True

Explanation: Research indicates that NPC1L1 functions as an accessory receptor, facilitating the entry of the Hepatitis C Virus into host cells.

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A comprehensive meta-analysis confirmed an increased risk of cancer in patients treated with ezetimibe.

Answer: False

Explanation: Subsequent comprehensive meta-analyses have concluded that there is no observed increase in cancer risk associated with ezetimibe treatment.

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Inhibiting NPC1L1 is being explored as a strategy against Hepatitis C Virus infection.

Answer: True

Explanation: Given NPC1L1's role as an entry factor for HCV, its inhibition is indeed being investigated as a potential therapeutic approach for HCV infection.

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How does the drug ezetimibe affect NPC1L1?

Answer: It inhibits the function of NPC1L1.

Explanation: Ezetimibe functions by inhibiting the activity of the NPC1L1 protein.

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What is the approximate percentage decrease in blood cholesterol levels observed when ezetimibe inhibits NPC1L1?

Answer: 15% to 20%

Explanation: Inhibition of NPC1L1 by ezetimibe typically leads to a reduction in blood cholesterol levels ranging from approximately 15% to 20%.

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NPC1L1 serves as an accessory receptor for the cellular entry of which virus?

Answer: Hepatitis C Virus (HCV)

Explanation: NPC1L1 acts as an accessory receptor that facilitates the entry of the Hepatitis C Virus into host cells.

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Initial concerns about NPC1L1 inhibition by ezetimibe were related to a potential increase in:

Answer: Cancer risk

Explanation: Early hypotheses suggested a potential link between NPC1L1 inhibition by ezetimibe and an increased risk of cancer, based on observations from certain clinical trials.

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What did a subsequent meta-analysis conclude regarding ezetimibe treatment and cancer incidence?

Answer: It found no observed increase in cancer risk.

Explanation: A comprehensive meta-analysis examining data from ezetimibe treatments found no evidence of an increased cancer risk.

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NPC1L1: Genetics and Disease Association

Genetic variations within the NPC1L1 gene have no known impact on how patients respond to ezetimibe.

Answer: False

Explanation: Polymorphisms in the NPC1L1 gene can influence patient response to ezetimibe, potentially leading to differential efficacy.

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Individuals with inactivating mutations in the NPC1L1 gene exhibit an increased risk for coronary heart disease.

Answer: False

Explanation: Conversely, individuals with inactivating NPC1L1 mutations demonstrate a significantly reduced risk for coronary heart disease, associated with lower LDL cholesterol levels.

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The NPC1L1 gene is located on Chromosome 7 in mice.

Answer: False

Explanation: In mice, the NPC1L1 gene is located on Chromosome 11, not Chromosome 7.

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The designation 'Niemann-Pick C1-Like 1' implies no relationship to Niemann-Pick disease.

Answer: False

Explanation: The name 'Niemann-Pick C1-Like 1' explicitly suggests a relationship or similarity to the protein involved in Niemann-Pick disease type C1, implying a shared role in lipid metabolism or transport.

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Which health condition shows a significantly reduced risk (around 50%) in individuals with inactivating NPC1L1 gene mutations?

Answer: Coronary Heart Disease

Explanation: Individuals with inactivating mutations in the NPC1L1 gene exhibit approximately a 50% reduction in their risk of developing coronary heart disease.

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In the human genome, the NPC1L1 gene is located on Chromosome 7 at which band?

Answer: 7p13

Explanation: The NPC1L1 gene in the human genome is located on Chromosome 7 at the 7p13 band.

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What are the genomic coordinates for the NPC1L1 gene in humans?

Answer: 44,512,535 to 44,541,330

Explanation: The genomic coordinates for the NPC1L1 gene in humans span from base pair 44,512,535 to 44,541,330 on Chromosome 7.

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The chromosomal location of NPC1L1 in humans is 7p13, while in mice it is located on:

Answer: Chromosome 11, band 11A1

Explanation: While human NPC1L1 is on Chromosome 7p13, the mouse NPC1L1 gene is located on Chromosome 11, specifically band 11A1.

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NPC1L1: Bioinformatics and Database Identifiers

The symbol SLC65A2 serves as an alternative designation for the NPC1L1 protein.

Answer: True

Explanation: SLC65A2 is indeed one of the alternative symbols or names used to refer to the NPC1L1 protein.

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The UniProt accession number for human NPC1L1 is Q6T3U4.

Answer: False

Explanation: The UniProt accession number for human NPC1L1 is Q9UHC9; Q6T3U4 corresponds to mouse NPC1L1.

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The Ensembl gene identifier for mouse NPC1L1 is ENSMUSG00000020447.

Answer: False

Explanation: ENSMUSG00000020447 is the Ensembl gene identifier for human NPC1L1, not mouse NPC1L1.

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The Entrez gene ID for human NPC1L1 is 237636.

Answer: False

Explanation: The Entrez gene ID for human NPC1L1 is 29881; 237636 is the Entrez ID for mouse NPC1L1.

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There are no listed RefSeq protein accession numbers for the human NPC1L1 gene in the provided text.

Answer: False

Explanation: The provided text lists several RefSeq protein accession numbers for the human NPC1L1 gene, including NP_001095118, NP_001287896, and NP_037521.

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The Protein Data Bank (PDB) identifier 3QNT is associated with NPC1L1 structures.

Answer: True

Explanation: The identifier 3QNT is indeed referenced in relation to Protein Data Bank (PDB) structures concerning NPC1L1.

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Multiple RefSeq mRNA identifiers for human NPC1L1 suggest only one functional transcript variant exists.

Answer: False

Explanation: The existence of multiple RefSeq mRNA identifiers typically indicates the presence of different transcript variants or isoforms, potentially leading to diverse protein products.

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The PDBe-KB database provides access to structural information for mouse NPC1L1.

Answer: False

Explanation: The PDBe-KB database provides access to structural information for human NPC1L1, not mouse NPC1L1.

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What is the full designation for the protein commonly abbreviated as NPC1L1?

Answer: Niemann-Pick C1-Like 1

Explanation: The full designation for the protein commonly abbreviated as NPC1L1 is Niemann-Pick C1-Like 1.

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Which of the following is NOT listed as an alternative name or symbol for NPC1L1?

Answer: CHOLABS1

Explanation: Alternative names and symbols listed for NPC1L1 include NPC11L1, LDLCQ7, and SLC65A2. CHOLABS1 is not mentioned as such.

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What is the UniProt accession number for the NPC1L1 protein in humans?

Answer: Q9UHC9

Explanation: The UniProt accession number for human NPC1L1 is Q9UHC9.

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What is the Ensembl gene identifier for human NPC1L1?

Answer: ENSG00000015520

Explanation: The Ensembl gene identifier for human NPC1L1 is ENSG00000015520.

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Which Entrez gene identification number corresponds to NPC1L1 in humans?

Answer: 29881

Explanation: The Entrez gene identification number for human NPC1L1 is 29881.

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Which of the following is a RefSeq mRNA accession number for the human NPC1L1 gene?

Answer: NM_001300967

Explanation: NM_001300967 is one of the RefSeq mRNA accession numbers listed for the human NPC1L1 gene.

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What does the source indicate regarding a RefSeq protein identifier for mouse NPC1L1?

Answer: It is listed as n/a (not available).

Explanation: The provided text indicates that a RefSeq protein identifier for mouse NPC1L1 is not available (marked as n/a).

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Which database identifier is referenced for Protein Data Bank (PDB) structures related to NPC1L1?

Answer: 3QNT

Explanation: The identifier 3QNT is specifically referenced in relation to Protein Data Bank (PDB) structures for NPC1L1.

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Besides gene and protein databases, which resource hosts related media for NPC1L1?

Answer: Wikimedia Commons

Explanation: Wikimedia Commons is cited as a resource that hosts media related to NPC1L1, in addition to standard biological databases.

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Which of the following is a key external database providing unique identifiers for NPC1L1 mentioned in the text?

Answer: Mouse Genome Informatics (MGI)

Explanation: Mouse Genome Informatics (MGI) is listed as a key external database that provides unique identifiers for NPC1L1.

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