SLC40A1FPN1Hereditary hemochromatosisBinds to ferroportinExporterProteinGeneReceptor ferroportinMutationsInternalization and degradationSystemic ironFerritinDegradationELISA KitTransportersTransmembraneEnterocytesHepcidin levelsReticuloendothelial2023Macrophages and hepatocytesTransports ironLiverBloodstreamAminoDecreasesMiceSection on Human Iron MetabProteinsOverexpressionTissuesQ248HExpressionTissueBindCellsGenesDeficiencySerumFamilyShownBodyStudies
SLC40A111
- Ferroportin-1, also known as solute carrier family 40 member 1 (SLC40A1) or iron-regulated transporter 1 (IREG1), is a protein that in humans is encoded by the SLC40A1 gene, and is part of the Ferroportin (Fpn) Family (TC# 2.A.100). (wikipedia.org)
- It is known that ferroportin (SLC40A1) gene is expressed at a low level in infertile women. (wikipedia.org)
- The SLC40A1 gene provides instructions for making a protein called ferroportin. (medlineplus.gov)
- Researchers have identified more than 37 mutations in the SLC40A1 gene that cause a form of hereditary hemochromatosis called ferroportin disease, which is also sometimes referred to as type 4 hemochromatosis. (medlineplus.gov)
- Almost all SLC40A1 gene mutations change a single protein building block (amino acid) in ferroportin. (medlineplus.gov)
- The SLC40A1 gene variation associated with increased iron stores replaces the amino acid glutamine with the amino acid histidine at position 248 in the ferroportin protein sequence and is written as Gln248His or Q248H. (medlineplus.gov)
- Mutation c.744G → T (Q248H), located in exon 6 of the ferroportin gene SLC40A1, is found as a polymorphism in populations of African origin. (unl.pt)
- utations in the human gene encoding ferroportin 1 (FPN1/IREG-1/MTP-1/SLC40A1) are associated with an unusual iron overload syndrome, recently named hemochromatosis type 4 or ferroportin disease. (intrinsiclifesciences.com)
- Hepdicin exerts its biological function upon binding to the only known cellular iron exporter, ferroportin (SLC40A1), thereby leading to ferroportin internalization and degradation. (haematologica.org)
- When iron is in excess, hepcidin/HAMP levels increase resulting in a degradation of ferroportin/SLC40A1 limiting the iron efflux to plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). (icr.ac.uk)
- It results from an autosomal dominant mutation in the SLC40A1 gene and affects the ability of ferroportin to bind hepcidin. (msdmanuals.com)
FPN13
- Deficiencies of the transmembrane iron-transporting protein ferroportin (FPN1) cause the iron misdistribution that underlies ferroportin disease, anemia of inflammation, and several other human diseases and conditions. (illinois.edu)
- We also show in FPN1-deficient primary macrophages derived from patients with ferroportin disease that hinokitiol moves labile iron from inside to outside cells and decreases intracellular ferritin levels. (illinois.edu)
- Hepcidin then binds to ferroportin-1 ( FPN1 ) on the surface of macrophages , enterocytes and hepatocytes . (diff.org)
Hereditary hemochromatosis2
- The most common human disorder of iron overload is hereditary hemochromatosis, which leads to abnormal accumulation of iron in the liver, heart, skin, and other organs. (eurekalert.org)
- Type 4 hereditary hemochromatosis (ferroportin disease) occurs largely in people of southern European ancestry. (msdmanuals.com)
Binds to ferroportin5
- Ferroportin is inhibited by hepcidin, which binds to ferroportin and internalizes it within the cell. (wikipedia.org)
- Hepcidin attaches (binds) to ferroportin and causes it to be broken down when the body's iron supplies are normal. (medlineplus.gov)
- Hepcidin binds to ferroportin resulting in decreased export of iron out of cells. (eurekalert.org)
- In the study, Kaplan and researchers from the University of Utah and University of California, Los Angeles report that they have identified the hepcidin-binding domain (HBD), the specific site where hepcidin binds to ferroportin. (eurekalert.org)
- Hepcidin binds to ferroportin in the enterocyte and causes its degradation, which thereby blocks dietary iron uptake. (fujiorganics.com)
Exporter5
- Ferroportin is the only known iron exporter. (wikipedia.org)
- Ferroportin may also function as a manganese exporter. (wikipedia.org)
- Mutations in the gene encoding ferroportin 1, a cellular iron exporter, are responsible for this iron storage disease, inherited as an autosomal dominant trait. (intrinsiclifesciences.com)
- Hepcidin inhibits the cellular efflux of iron by binding to and inducing the degradation of ferroportin (FPN) , the sole iron exporter in iron-transporting cells, thereby blocking iron flow into plasma. (diff.org)
- The hormone binds to its receptor ferroportin, the sole exporter of cellular iron into plasma. (ashpublications.org)
Protein9
- Ferroportin is a transmembrane protein that transports iron from the inside of a cell to the outside of the cell. (wikipedia.org)
- The amount of ferroportin available to transport iron is controlled by another iron regulatory protein, hepcidin. (medlineplus.gov)
- Ferroportin is a transmembrane protein responsible for iron export from enterocytes and macrophages. (unl.pt)
- Structural studies of human ferroportin (King's College London)Ferroportin is a protein that is involved in transferring dietary iron from intestines to blood. (ukri.org)
- Hepcidin is created by the liver and will destroy the transporter protein, ferroportin if there is too much iron showing up at the enterocyte. (drwholeness.com)
- Moreover, iron interactions with N-terminally acetylated α S, the physiologically relevant form of the human protein, will be addressed to shed light on the current understanding of protein dynamics and the physiological environment in the disease state. (hindawi.com)
- A tetrameric form of α S has also been identified in human tissues that has been postulated as the inactive storage form of this structurally dynamic protein due to its aggregation resistance [ 6 , 7 ]. (hindawi.com)
- IL-1R2 Protein, Human (HEK293) is a recombinant human IL-1R2 protein and is expressed in HEK293 cells. (medchemexpress.com)
- Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O: A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. (karger.com)
Gene2
- Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). (medlineplus.gov)
- To determine the possible role of sTfR1 as a signaling mechanism for iron absorption, a hydrodynamic gene transfer technique was established to express transfected plasmid constructs of human sTfR1 (hsTfR1) and murine sTfR1 (msTfR1) from the livers of C57BL/6 mice. (karger.com)
Receptor ferroportin1
- Iron balance in the body is regulated by the interaction between a liver-produced hormone called hepcidin and the iron transporting receptor ferroportin. (eurekalert.org)
Mutations2
- De Domenico I, Ward DM, Musci G, Kaplan J. Iron overload due to mutations in ferroportin. (medlineplus.gov)
- In patients with most, but not all, ferroportin mutations, retention of iron in macrophages of the liver and other organs may protect against damage to parenchymal cells. (intrinsiclifesciences.com)
Internalization and degradation1
- Hepcidin, which is expressed in the liver, heart, 16 and kidney, 17 is the key mediator of anemia of inflammation, 18,19 and synthetic hepcidin was shown to interact physically with ferroportin in a cellular overexpression system, causing internalization and degradation, and decreased export of iron. (intrinsiclifesciences.com)
Systemic iron1
- In conclusion, the systemic iron burden in ferroportin disease is not a sufficient cause for chronic liver disease. (intrinsiclifesciences.com)
Ferritin3
- If the iron concentration is too low, the IRP concentration increases, thus inhibiting the ferroportin translation and increasing intracellular iron and ferritin concentrations. (wikipedia.org)
- IRPs bind to RNA stem-loops known as iron-responsive elements (IREs) in transcripts that encode iron metabolism genes, including ferritin, transferrin receptor 1, ferroportin, HIF2 alpha, and several other transcripts. (nih.gov)
- Iron that has entered the mucosal cell can be stored as ferritin or transferred through the mucosal cell and exported across the basolateral membrane by ferroportin. (fujiorganics.com)
Degradation1
- Within the phagocytes, iron is recycled through enzymatic degradation of heme and delivered via ferroportin into the circulation, accounting for approximately 90% of the daily iron needs. (haematologica.org)
ELISA Kit1
- Human Ferroportin (FPN) ELISA Kit - 5x 96 wells plate - 1 kit is backordered and will ship as soon as it is back in stock. (dnamethsoc.com)
Transporters4
- Recent crystal structures generated from a bacterial homologue of ferroportin (from Bdellovibrio bacteriovorus) revealed that the Fpn structure resembles that of major facilitator superfamily (MFS) transporters. (wikipedia.org)
- These findings collectively provide foundational support for the translation of small molecule iron transporters into therapies for human diseases caused by iron misdistribution. (illinois.edu)
- Iron supplements taken daily at doses of 60mg have consistently been shown to increase hepcidin levels, which shuts down the ferroportin transporters and iron uptake into the blood. (drwholeness.com)
- If too much iron is being absorbed more hepcidin is created, leading to more destruction of ferroportin transporters. (drwholeness.com)
Transmembrane1
- Members of the ferroportin family consist of 400-800 amino acid residues, with a highly conserved histidine at residue position 32 (H32), and exhibit 8-12 putative transmembrane domains. (wikipedia.org)
Enterocytes3
- Ferroportin is found on the basolateral membranes of intestinal epithelia of mammals, including: Enterocytes in the duodenum Hepatocytes Macrophages of the reticuloendothelial system Adipocytes Ferroportin-1 plays an important role in neural tube closure and forebrain patterning. (wikipedia.org)
- It is then transported from enterocytes to the bloodstream by ferroportin. (drwholeness.com)
- Ferroportin is prominently expressed in enterocytes, iron-recycling macrophages and hepatocytes. (ashpublications.org)
Hepcidin levels2
- When the body is low on iron, hepcidin levels decrease and more ferroportin is available to transport iron into the bloodstream so it can be delivered to tissues throughout the body. (medlineplus.gov)
- Finally, macrophage iron storage in ferroportin disease is associated with elevated serum pro-hepcidin levels. (intrinsiclifesciences.com)
Reticuloendothelial2
- Ferroportin also transports iron out of specialized immune system cells (called reticuloendothelial cells) that are found in the liver, spleen, and bone marrow. (medlineplus.gov)
- Abnormal ferroportin proteins cannot transport and release iron from intestinal or reticuloendothelial cells. (medlineplus.gov)
20231
- Human genomics 2023 8 17 (1): 77. (cdc.gov)
Macrophages and hepatocytes1
- Considering the tissue distribution of ferroportin, the hepcidin-ferroportin interaction explains the efferent arm of iron homeostasis because it can control the iron absorption in the duodenum, as well as the release of iron from macrophages and hepatocytes. (diff.org)
Transports iron1
- Ferroportin transports iron obtained from the diet that is absorbed through the walls of the small intestine into the bloodstream. (medlineplus.gov)
Liver2
- Large-scale sequencing efforts currently being undertaken by The Cancer Genome Atlas (TCGA) project will likely characterize the recurrent genetic alterations present in human liver tumors and may identify novel therapeutic targets. (prolekarniky.cz)
- It is distributed throughout the human body's tissue with most being found in the bone, kidneys, liver, pituitary, pancreas and brain. (naturalmedicineinsights.com)
Bloodstream1
- After dietary iron is absorbed into the cells of the small intestine, ferroportin allows that iron to be transported out of those cells and into the bloodstream. (wikipedia.org)
Amino2
- Human Fpn consists of 571 amino acid residues. (wikipedia.org)
- The sequence of amino acids in IL-1R2 from human shows low similarity (about 60%) with both mouse and rat IL-1R2. (medchemexpress.com)
Decreases2
- They also discovered that hepcidin's ability to bind to the HBD decreases at temperatures below the normal human body temperature of 37°C due to structural changes in the hepcidin molecule at lower temperatures. (eurekalert.org)
- Hepcidin binding initiates the endocytosis and proteolysis of ferroportin and thereby decreases iron flow into plasma. (ashpublications.org)
Mice2
- Consistently, decreased levels of OTUD3 are detected in transgenic PD mice expressing A53T mutant of human α-synuclein. (nature.com)
- Mice with hepcidin-resistant ferroportin accumulate iron in the retina. (upenn.edu)
Section on Human Iron Metab1
Proteins1
- Many human cytokines will produce a nice response in mouse cell lines, and many mouse proteins will show activity on human cells. (medchemexpress.com)
Overexpression1
- Additionally, we detected overexpression of RTL1 in 30% of analyzed human HCC samples, indicating the potential relevance of this locus as a therapeutic target for patients. (prolekarniky.cz)
Tissues1
- In humans it appears to be required for the regulation of blood sugar levels and the growth and repair of connective tissues and cartilage. (naturalmedicineinsights.com)
Q248H1
- The Q248H variation may affect the way ferroportin helps to regulate iron levels in the body, resulting in an increased risk of African iron overload. (medlineplus.gov)
Expression2
- What's more, low expression of ferroportin is also associated with infertility when some features like age and smoking habits are considered. (wikipedia.org)
- Ferroportin expression is also regulated by the IRP regulatory mechanism. (wikipedia.org)
Tissue1
Bind1
- In this study, Kaplan and his colleagues found that the fish hepcidin which is the same length as human hepcidin was able to bind to the HBD at temperatures as low as 4°C but had very little antibacterial activity at both 4°C and 37°C. This discovery provides insight into the evolution of hepcidin among vertebrates. (eurekalert.org)
Cells4
- It is also important to mention that, not only is ferroportin down-regulated in granulosa cells, but also in cervical cells of infertile women, and that the association between infertility and low ferroportin levels in these cells can be seen, again, when mRNA ferroportin levels was adjusted by age and smoking status. (wikipedia.org)
- Ferroportin disease (hemochromatosis type 4) is a recently recognized disorder of human iron metabolism, characterized by iron deposition in macrophages, including Kupffer cells. (intrinsiclifesciences.com)
- 1 , 7 In addition, pro-and anti-inflammatory cytokines further contribute to iron retention within monocytes/macrophages by stimulating iron uptake pathways while inhibiting ferroportin transcription in these cells. (haematologica.org)
- IL-1R2 is rapidly upregulated in human regulatory T cells (Tregs). (medchemexpress.com)
Genes1
- Human hepcidin has both iron- and bacteria-related activities, while fish hepcidin genes evolved to separate these functions. (eurekalert.org)
Deficiency2
- The ferroportin translation is also down regulated post-transcriptionally by the micro RNA miR-485-3p, which is produced in response to iron deficiency. (wikipedia.org)
- Recently, our group collaborated to identify two human patients with IRP2 deficiency related neurodegenerative disease. (nih.gov)
Serum2
- The Ferroportin Antibody Rat reagent is RUO (Research Use Only) to test human serum or cell culture lab samples. (exoquick.com)
- Description: A competitive ELISA for quantitative measurement of Rat Ferroportin in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (exoquick.com)
Family1
- We present clinical, histopathological, and radiological findings in a family with the most common ferroportin mutation, V162del. (intrinsiclifesciences.com)
Shown1
- In addition to iron, ferroportin has been shown to transport cobalt & zinc, as well as nickel. (wikipedia.org)
Body2
- For its scarcity in the human body and the fundamental processes in which it is involved, pathogens (bacterial, viral or fungal) compete with the host for iron availability in order to guarantee their own replication. (biomedcentral.com)
- The human body is so awesome. (drwholeness.com)
Studies2
- studies of human Fpn expressed in Xenopus laevis oocytes demonstrated that calcium is a required cofactor for Fpn, but that Fpn does not transport calcium. (wikipedia.org)
- Currently directs a translational research laboratory which focuses on human and mechanistic studies to understand the interactions between various viral pathogens. (uc.edu)