Property Summary

NCBI Gene PubMed Count 137
PubMed Score 262.28
PubTator Score 234.27

Knowledge Summary


No data available


  Disease (5)

Disease Target Count
Hemochromatosis 4 1


Gene RIF (110)

26666535 Erythroblasts from Beta-thalassemia patients showed a significantly reduced expression of total MTP1 protein.
26437604 The concentration of functional membrane-associated ferroportin is controlled by its ligand, the iron-regulatory hormone hepcidin, and fine-tuned by regulatory mechanisms serving iron homeostasis, oxygen utilization, host defense, and erythropoiesis.
26125411 TLR4 dependent macrophage signaling is controlled via hepcidin-ferroportin1 axis by influencing TLR4-lipid raft interactions
25976471 Single nucleotide polymorphisms in HAMP, BMP2, FTL and SLC40A1 genes have phenotype-modifying roles in hereditary hemochromatosis type 1.
25855377 we demonstrated that downregulation of FPN1 plays critical roles in promoting myeloma cell growth and bone resorption in multiple myeloma.
25805936 Decreased expression of hepcidin and ferroportin in hepatitis C patients indicates the importance of hepatocytic iron retention for viral response during pegylated-interferon plus ribavirin treatment.
25745821 Low hepcidin and high ferroportin expression by erythroblasts and macrophages were seen in iron deficiency anemia, while the opposite was true in anemia of chronic disorders.
25744489 study of healthy adults provides further evidence that ferroportin Q248H mutation affects serum ferritin concentration in Africans
25451081 The effects of abnormal FPN on tumor growth and the molecular mechanisms of diminished tumor FPN, were examined.
25441019 Several family members had hemochromatosis and hyperferritinemia associated with a SLC40A1 deletion in exon 5(485_487delTTG) resulting in the deletion of a valine residue (p.V162del). This is the 1st Spanish family reported with this European mutation.
25330009 The expression of duodenal Fpn1 is negatively correlated with mRNA levels of hepcidin, and positively correlated with serum iron parameters.
25284586 Data indicate that elevated miR-492 expression in prostate tumors that resulted in diminished myeloid zinc-finger 1 (MZF-1) and ferroportin (FPN).
25176568 Chlorpyrifos elevates ferroportin expression through transcriptional regulation.
25093806 combined data overall deciphered the machinery that altered the hepcidin-ferroportin signaling in breast cancers.
24859227 D181V and A69T ferroportin mutation is associated with hemochromatosis.
24644245 Findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease.
24304836 Ferroportin is an iron-preferring cellular metal-efflux transporter with a narrow substrate profile that includes cobalt and zinc.
24252754 Results suggest that reduction in ferroportin levels in Alzheimer's disease brains are likely associated with cerebral ischaemia, inflammation, loss of neurons due to protein misfolding, senile plaque formation and possibly ageing process itself
23996061 Manganese (Mn) transport carriers DMT1 and FPN1 mediate the apical uptake and basolateral exit of Mn in colonic epithelial Caco-2 cells.
23846698 A model is proposed that suggests that unlike proteases, which are irreversibly bound to activated alpha2M, hepcidin remains labile and available to down-regulate Fpn1.
23784628 Tryptophan residue 42, which is localized within the extracellular end of the ferroportin pore, is likely involved in the iron export function of SLC40A1.
23680252 The Q248H mutation in ferroportin was associated with hyperferritinemia and aytpical type 2 diabetes mellitus in patients from South Kivu.
23640881 Iron efflux from human brain microvasculature endothelial cells ferroportin requires the action of an exocytoplasmic ferroxidase which can be either endogenous hephaestin or extracellular ceruloplasmin.
23630227 Nitric oxide up-regulated the expression of ferroportin-1 (Fpn1), the major cellular iron exporter, in mouse and human cells.
23335088 Our study suggests that GDF15 induction helps suppress further activation of macrophages in stressful physiologic states as hemophagocytic lymphohistiocytosis...resulting in enhanced ferroportin-mediated iron efflux.
23178444 ferroportin polymorphism and iron homeostasis and infection [review]
23065513 ferroportin Q248H protein is resistant to physiological concentrations of hepcidin and that this mutation has discernible effects on iron metabolism-related clinical complications of sickle cell anemia.
23012398 Letter: report mutations in SLC40A1 promoter in and possible role in iron hemostasis in patients with porphyria cutanea tarda.
22890139 Mutations in the SLC40A1 gene is associated with hemochromatosis.
22776295 labeled hepcidin was also a suitable tool to visualize internalization of overexpressed or even endogenously expressed ferroportin without tags
22682227 human ferroportin mutation K240E, previously associated with clinical iron overload, caused hepcidin resistance in vitro by interfering with ferroportin ubiquitination
22682226 Hepcidin-induced ferroportin internalization did not require JAK2 or phosphorylation of ferroportin residues 302 and 303
22357659 Four SLC40A1 single-nucleotide polymorphisms (SNPs) were associated with an increased risk of tuberculosis and 1 SNP with reduced risk.
22249207 Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women.
22246570 the present study demonstrated the presence of ferroportin 1 in cultured human osteoblast cells. Furthermore, the osteoblast ferroportin 1 is functionally regulated by hepcidin.
22178646 Mn is a substrate for FPN1, and that this export process is inhibited by a low extracellular pH and by incubation in a high K(+) medium, indicating the involvement of transmembrane ion gradients in FPN1-mediated transport.
22170436 Placental FPN1 expression is not dependent on the iron regular element/iron regular protein regulation.
22137264 Data suggest that FPN-1 expression in enterocytes increases upon zinc supplementation and decreases with iron or zinc depletion; FPN-1 appears to be involved in efflux of excess sequestered iron and thus helps maintain cellular iron homeostasis.
21607294 Letter: Report Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda.
21396368 Report mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
21303654 Nrf2 regulates iron efflux from macrophages through Fpn1 gene transcription
21231898 This study confirmed the presence of Q248H mutation at polymorphic frequencies in three native sub-Saharan populations.
21199650 Members of families with ferroportin disease should be screened for biochemical parameters of iron metabolism as well as genotype to detect silent mutations that might cause disease with acquired or genetic cofactors
21126372 Expression of ferroportin was associated with reduced HIV-1 transcription.
21094556 Identified a G to A nucleotide change at position 238 in the ferroportin gene leading to the G80S substitution. The G80S mutation results in a mutated ferroportin associated with iron overload and is predicted to be defective in iron export.
20739079 Observational study of gene-disease association. (HuGE Navigator)
20691492 Meta-analysis of gene-disease association. (HuGE Navigator)
20688958 Zinc and cadmium can activate FPN1 transcription through the Metal Transcription Factor-1.
20686179 Ferroportin is a pivotal protein in breast biology and a strong and independent predictor of prognosis in breast cancer.
20655381 Findings supported the notion that under low levels of hepcidin, mutant ceruloplasmin cannot stabilize ferroportin because of a loss-of-function in the ferroxidase activity.
20587610 Observational study of gene-disease association. (HuGE Navigator)
20564534 Intestinal FPN protein is upregulated in anemic Crohn's disease.
20460119 Ferroportin Q248H and low iron stores are both associated with lower circulating tumor necrosis factor-alpha, while only ferroportin Q248H is associated with lower circulating macrophage migration inhibitory factor
20460119 Observational study of gene-disease association. (HuGE Navigator)
20230395 study presents a family with a novel mutation in the SLC40A1 gene leading to a type 4a haemochromatosis phenotype, ferroportin disease
20007457 Suggest a novel mechanism of regulation of intestinal iron absorption based on inward and outward fluxes at both membrane domains, and repositioning of DMT1 and FPN between membrane and intracellular compartments as a function of iron supply.
19958990 Observational study of gene-disease association. (HuGE Navigator)
19937651 We report a novel pathological SLC40A1 variant associated with abnormal cell surface expression of ferroportin due to intracellular retention of the mutant protein
19846751 Phenoypic clustering of mutations with gain-of-function variants associate with a hypothetical channel through the axis of ferroportin.
19787796 identified mutations in HFE, SLC40A1, HAMP, HJV, TFR2, and FTL that could explain TRANSFERRIN SATURATION/SERUM FERRITIN heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D; results were correlated with racial groups
19759876 None of the individuals in this cohort of Brazilian patients with the classical phenotype of HH had any of the aforementioned non-C282Y mutations in the HFE gene or any mutations in the TfR2 and SCL40A1 genes.
19709084 the functional relevance of a novel ferroportin variant: the c.1502 A>G transition, which changes amino acid 501 from tyrosine to cysteine (p.Y501C);the p.Y501C mutant protein reached the plasma membrane and retained a full iron export ability
19610021 Observational study of gene-disease association. (HuGE Navigator)
19589941 These relatively high hepcidin levels are probably a consequence of patients' elevated transferrin saturation
19234114 These results show that cooperativity between the ferroportin monomers is required for hepcidin-mediated Jak2 activation and ferroportin down-regulation.
19150361 Hepcidin addition resulted in a redistribution of ferroportin to intracellular compartments that labeled with early endosomal and lysosomal, but not Golgi, markers and that trafficked along microtubules.
19066423 Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
18820912 Observational study of gene-disease association. (HuGE Navigator)
18782341 Ther is a higher prevalence of ferroportin Q248H with greater alcohol consumption, and this higher prevalence raises the possibility that the allele might ameliorate the toxicity of alcohol.
18646536 The expression of both protein and mRNA of FP1 of term placentas was not influenced by different degree of iron status of pregnant women.
18586377 No significant change in placental expression of either protein or mRNA ferroportin 1 (FP1) was observed in the maternal anemia groups
18177470 We identified two novel mutations (D157N and V72F) at the heterozygous state of SLC40A1 in two probands. Phenotype heterogeneity was observed in both families, suggesting variable penetrance and expression
18160816 A new SLC40A1 exon 7 mutation c.1402G-->A results in aberrant splicing to a cryptic upstream splice site at nt 990 in the same exon. The truncated protein, missing its C-terminal 241 AAs, lacks all structural motifs beyond transmembrane region 7.
18160317 ferroportin was investigated as a candidate gene in 2 pedigrees with hyperferritinaemia and siderosis in mononuclear phagocytes; A77D mutation was detected in patient 1, his father & brother; V162del mutation was detected in patient 4
17997113 analysis of the SLC40A1 gene at the mRNA level in 2 patients with hyperferritinemia, normal transferrin saturation & iron accumulation predominantly in macrophages & Kupffer cells; first displayed V162 Delta; the second a novel mutation (R178G)
17847004 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17490902 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17490902 frequency of SLC40A1 Q248H is significantly lower in African-Americans than Native Africans; OR estimates of iron overload in African-Americans & Native Africans with Q248H were greater than unity, increased OR were not statistically significant
17486601 Results suggest the possibility that FPN-1 might associate and interact with Heph in the process of iron exit across the basolateral membrane of intestinal absorptive cell.
17475779 After binding of hepcidin, Fpn is tyrosine phosphorylated at the plasma membrane.
17383046 the S338R mutation results in a mutated ferroportin associated with iron overload and is predicted insensitive to regulation by the iron regulatory hormone hepcidin
17276706 Observational study of gene-disease association. (HuGE Navigator)
17276706 findings conclude that the frequency of the FPN1 Q248H polymorphism is greater in African American men with elevated serum ferritin than in those with normal serum ferritin
17135308 Observational study of gene-disease association. (HuGE Navigator)
17042772 Observational study of gene-disease association. (HuGE Navigator)
16885049 Fpn amino acid substitution represents a class of Fpn mutants whose behavior in vitro does not explain the phenotype of patients with iron overload.
16648237 Iron mobilization by alveolar macrophages can be affected by iron and LPS via several pathways, including HAMP-mediated degradation of FPN1, and that these cells may use unique regulatory mechanisms to cope with iron imbalance in the lung.
16330432 FPN1 is present in erythroid cells at all stages of differentiation. The existence of multiple FPN1 transcripts indicates a complex regulation of the FPN1 gene in erythroid cells.
16280445 Observational study of gene-disease association. (HuGE Navigator)
15956209 The behavior of mutant ferroportin in cell culture and the ability of mutant Fpn to act as a dominant negative explain the dominant inheritance of hemochromaatois as well as the different patient phenotypes.
15942076 ferroportin mutations A77D, V162delta, and G490D are associated with a typical pattern of hemochromatosis disease in vivo
15935710 HFE4 mutations are heterogeneous in their effects on protein function; all mutants appear to be unresponsive to hepcidin and do not demonstrate the expected internalization on exposure to hepcidin.
15897636 Mutation in the ferroportin 1 may be related to hemochromatosis.
15894659 Observational study of gene-disease association. (HuGE Navigator)
15831700 the Y64N and C326Y mutants of FPN are completely resistant to hepcidin inhibition and N144D and N144H are partially resistant. Hemochromatosis-associated FPN mutations, either reduce iron export or produce an FPN variant that is insensitive to hepcidin
15727899 Hereditary hemochromatosis associated with a previously unrecognized ferroportin mutation (Cys326Ser).
15692071 ferroportin mutations A77D, V162delta, and G490D are associated with a typical pattern of hemochromatosis disease in vivo
15338274 In Africans with iron overload not related to the HFE gene, the possible involvement of the SLC40A1 and CYBRD1 genes was demonstrated for the first time.
15075083 Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in thalassemia intermedia and betas/betathal patients
14768003 the presence of cirrhosis is an independent factor associated with increased expression of DMT1 but not Ireg1.
14757427 review of a new inherited disorder of iron metabolism due to pathogenic mutations in the SLC40A1 gene
14636643 variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload
14636642 Q248H mutation is a common polymorphism in the ferroportin 1 gene in African populations that may be associated with mild anemia and a tendency to iron loading
12730114 both L ferritin IRE and ferroportin mutations can account for isolated hyperferritinemia.
12376346 Iron increases expression of this iron-export protein in lung cells.
12091367 A 3-base pair deletion in exon 5 of the ferroportin 1 gene predicting Val162 deletion was found in a family with autosomal dominant inheritance of increased body iron stores without hemochromatosis.
11897618 expression levels of human DCT1 mRNA, and to a lesser extent IREG1 mRNA, are regulated in an iron-dependent manner
11783942 gene coding and flanking regions were sequenced and examined for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype or cause hemochromatosis independent of mutations in the HFE gene
11774199 Hemochromatosis is caused by mutations in the iron-regulatory protein ferroportin.
11518736 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

RKENQANTSVV                                                               561 - 571

Text Mined References (139)

PMID Year Title
26666535 2016 Dysregulation of ferroportin gene expression in ?(0)-thalassemia/Hb E disease.
26437604 2015 Ironing out Ferroportin.
26125411 2015 Hepcidin-ferroportin axis controls toll-like receptor 4 dependent macrophage inflammatory responses in human atherosclerotic plaques.
25976471 2015 Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
25855377 2015 Decreased ferroportin promotes myeloma cell growth and osteoclast differentiation.
25805936 2015 Hepcidin/ferroportin expression levels involve efficacy of pegylated-interferon plus ribavirin in hepatitis C virus-infected liver.
25745821 2015 Bone marrow iron distribution, hepcidin, and ferroportin expression in renal anemia.
25744489 2015 Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans.
25451081 2015 Disordered signaling governing ferroportin transcription favors breast cancer growth.
25441019 2015 [Usefulness of a diagnostic algorithm hyperferritinemia: A case report of a Spanish family with hereditary hemochromatosis and mutation in SLC40A1 gene].
25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
25330009 2014 Duodenal ferroportin is up-regulated in patients with chronic hepatitis C.
25284586 2015 Myeloid zinc-finger 1 (MZF-1) suppresses prostate tumor growth through enforcing ferroportin-conducted iron egress.
25176568 2014 Sublethal exposure of organophosphate pesticide chlorpyrifos alters cellular iron metabolism in hepatocytes and macrophages.
25093806 2014 Disordered hepcidin-ferroportin signaling promotes breast cancer growth.
24867889 2014 sAPP modulates iron efflux from brain microvascular endothelial cells by stabilizing the ferrous iron exporter ferroportin.
24859227 2014 Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.
24644245 2014 A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
24304836 2014 Functional properties of human ferroportin, a cellular iron exporter reactive also with cobalt and zinc.
24252754 2013 The systemic iron-regulatory proteins hepcidin and ferroportin are reduced in the brain in Alzheimer's disease.
23996061 2013 Kinetics of manganese transport and gene expressions of manganese transport carriers in Caco-2 cell monolayers.
23846698 2013 Hepcidin bound to ?2-macroglobulin reduces ferroportin-1 expression and enhances its activity at reducing serum iron levels.
23784628 2013 Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
23680252 Ferroportin Q248H mutation, hyperferritinemia and atypical type 2 diabetes mellitus in South Kivu.
23640881 2013 Ferroportin and exocytoplasmic ferroxidase activity are required for brain microvascular endothelial cell iron efflux.
23630227 2013 Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection.
23335088 2013 GDF15-mediated upregulation of ferroportin plays a key role in the development of hyperferritinemia in children with hemophagocytic lymphohistiocytosis.
23219802 2013 Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.
23178444 2013 Effect of ferroportin polymorphism on iron homeostasis and infection.
23065513 2013 Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
23012398 2013 Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1.
22890139 2012 Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
22776295 2012 Efficient oxidative folding and site-specific labeling of human hepcidin to study its interaction with receptor ferroportin.
22682227 2012 Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.
22682226 2012 Molecular mechanism of hepcidin-mediated ferroportin internalization requires ferroportin lysines, not tyrosines or JAK-STAT.
22357659 2012 Polymorphisms in the gene that encodes the iron transport protein ferroportin 1 influence susceptibility to tuberculosis.
22249207 2012 Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women.
22246570 2012 Downregulation of ferroportin 1 expression in hFOB1.19 osteoblasts by hepcidin.
22178646 2012 The iron transporter ferroportin can also function as a manganese exporter.
22170436 2012 Ferroportin 1 and hephaestin expression in BeWo cell line with different iron treatment.
22137264 2012 Coordinate expression and localization of iron and zinc transporters explain iron-zinc interactions during uptake in Caco-2 cells: implications for iron uptake at the enterocyte.
21607294 2011 Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda: a series of 37 cases from southern France.
21396368 2011 Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
21303654 2011 Nrf2 regulates ferroportin 1-mediated iron efflux and counteracts lipopolysaccharide-induced ferroportin 1 mRNA suppression in macrophages.
21231898 2011 SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.
21199650 2011 Sex and acquired cofactors determine phenotypes of ferroportin disease.
21126372 2010 Hepcidin induces HIV-1 transcription inhibited by ferroportin.
21094556 2011 G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective.
20817278 2010 Iron-export ferroxidase activity of ?-amyloid precursor protein is inhibited by zinc in Alzheimer's disease.
20739079 2010 Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease.
20691492 2010 Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
20688958 2010 Induction of FPN1 transcription by MTF-1 reveals a role for ferroportin in transition metal efflux.
20686179 2010 Ferroportin and iron regulation in breast cancer progression and prognosis.
20655381 2010 Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin.
20587610 2010 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
20564534 2011 Intestinal ferroportin expression in pediatric Crohn's disease.
20460119 2010 Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children.
20230395 2010 A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia.
20019163 2010 Human hephaestin expression is not limited to enterocytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells.
20007457 2010 Iron supply determines apical/basolateral membrane distribution of intestinal iron transporters DMT1 and ferroportin 1.
19958990 2009 DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators.
19937651 2010 Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
19846751 2010 Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.
19787796 2009 HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
19759876 2009 Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
19709084 2009 A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
19610021 2009 Mutation analysis of hepcidin and ferroportin genes in Italian prospective blood donors with iron overload.
19589941 2009 Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
19234114 2009 Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2.
19150361 2009 Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.
19066423 2008 Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
18820912 2009 Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
18782341 2008 Ferroportin Q248h, dietary iron, and serum ferritin in community African-Americans with low to high alcohol consumption.
18646536 2008 [Effect of iron status of pregnant women on ferroportin 1 expression in third-trimester placenta].
18586377 2008 Change in iron transporter expression in human term placenta with different maternal iron status.
18177470 2008 Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.
18160816 2007 SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
18160317 Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease.
17997113 Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.
17847004 2007 Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
17490902 SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.
17486601 2007 Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells.
17475779 2007 The molecular mechanism of hepcidin-mediated ferroportin down-regulation.
17383046 2007 A novel mutation in ferroportin implicated in iron overload.
17276706 Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
17135308 2007 Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.
17042772 2007 H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
16885049 2006 Molecular and clinical correlates in iron overload associated with mutations in ferroportin.
16648237 2006 Hepcidin expression and iron transport in alveolar macrophages.
16381901 2006 The LIFEdb database in 2006.
16351644 2005 Genetic and clinical heterogeneity of ferroportin disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16330432 2005 Expression of alternative transcripts of ferroportin-1 during human erythroid differentiation.
16280445 2005 Effect of ferroportin Q248H polymorphism on iron status in African children.
16274220 2005 Recombinant expression and functional characterization of human hephaestin: a multicopper oxidase with ferroxidase activity.
15956209 2005 The molecular basis of ferroportin-linked hemochromatosis.
15942076 2005 A novel ferroportin disease in a Japanese patient.
15935710 Functional consequences of ferroportin 1 mutations.
15897636 2005 Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene.
15894659 2005 Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
15831700 2005 Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15727899 Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
15692071 2005 In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.
15514116 2004 Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466004 2004 Recent advances in understanding haemochromatosis: a transition state.
15338274 2004 Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
15075083 2004 The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients.
14768003 2004 Increased duodenal expression of divalent metal transporter 1 and iron-regulated gene 1 in cirrhosis.
14757427 The ferroportin disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14636643 Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans.
14636642 Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
12873829 2003 Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.
12865285 2003 A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.
12857562 2003 Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
12730114 2003 Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12406098 2002 Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).
12376346 2002 Iron increases expression of iron-export protein MTP1 in lung cells.
12161425 2002 Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation.
12123233 2002 A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.
12091367 2002 Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).
12091366 2002 Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
11925460 2002 IEC-6 cells are an appropriate model of intestinal iron absorption in rats.
11897618 2002 Intestinal expression of genes involved in iron absorption in humans.
11783942 A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.
11518736 2001 Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
11431687 2001 A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10882071 2000 A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.
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