Details for: SLC40A1

Gene ID: 30061

Symbol: SLC40A1

Ensembl ID: ENSG00000138449

Description: solute carrier family 40 member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 121.3795
    Cell Significance Index: -18.8800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 75.8151
    Cell Significance Index: -19.2300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 56.8975
    Cell Significance Index: -23.1200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 54.7951
    Cell Significance Index: -25.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 53.0147
    Cell Significance Index: -27.2700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 38.7767
    Cell Significance Index: -26.0200
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 27.7450
    Cell Significance Index: 73.1900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.4097
    Cell Significance Index: -23.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.6210
    Cell Significance Index: -19.2600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 13.3187
    Cell Significance Index: 355.6300
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 11.7986
    Cell Significance Index: 73.0000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.3552
    Cell Significance Index: -27.7400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 9.4454
    Cell Significance Index: 218.2200
  • Cell Name: theca cell (CL0000503)
    Fold Change: 6.9787
    Cell Significance Index: 41.0000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 6.7941
    Cell Significance Index: 87.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.3380
    Cell Significance Index: -25.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.8207
    Cell Significance Index: 169.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.0383
    Cell Significance Index: 331.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.9597
    Cell Significance Index: 52.5100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.9145
    Cell Significance Index: 208.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.4540
    Cell Significance Index: 31.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1001
    Cell Significance Index: 57.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0417
    Cell Significance Index: 206.7300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.0203
    Cell Significance Index: 76.0400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0107
    Cell Significance Index: 27.5100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.9580
    Cell Significance Index: 11.4200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.9314
    Cell Significance Index: 14.4100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8762
    Cell Significance Index: 791.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8647
    Cell Significance Index: 24.9200
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.8018
    Cell Significance Index: 4.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.7525
    Cell Significance Index: 47.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6737
    Cell Significance Index: 367.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6545
    Cell Significance Index: 17.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6445
    Cell Significance Index: 30.0500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5830
    Cell Significance Index: 80.0600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5387
    Cell Significance Index: 66.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5307
    Cell Significance Index: 27.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5293
    Cell Significance Index: 13.2300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5201
    Cell Significance Index: 98.9700
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.4885
    Cell Significance Index: 5.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4760
    Cell Significance Index: 85.8000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4552
    Cell Significance Index: 13.0500
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.3744
    Cell Significance Index: 2.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3664
    Cell Significance Index: 62.5600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3400
    Cell Significance Index: 150.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3337
    Cell Significance Index: 33.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2738
    Cell Significance Index: 12.4100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.2715
    Cell Significance Index: 2.4100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.2050
    Cell Significance Index: 2.6400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1851
    Cell Significance Index: 23.7300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0935
    Cell Significance Index: 2.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0812
    Cell Significance Index: 1.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0376
    Cell Significance Index: 0.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0179
    Cell Significance Index: 0.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0142
    Cell Significance Index: 10.7800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0011
    Cell Significance Index: -0.6800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0015
    Cell Significance Index: -1.1300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0043
    Cell Significance Index: -3.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0063
    Cell Significance Index: -0.6400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0109
    Cell Significance Index: -20.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0169
    Cell Significance Index: -31.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0174
    Cell Significance Index: -9.8400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0203
    Cell Significance Index: -31.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0236
    Cell Significance Index: -32.0300
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.0292
    Cell Significance Index: -0.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0384
    Cell Significance Index: -24.4000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0398
    Cell Significance Index: -14.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0489
    Cell Significance Index: -22.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0490
    Cell Significance Index: -14.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0567
    Cell Significance Index: -11.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0598
    Cell Significance Index: -4.5900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0716
    Cell Significance Index: -8.1700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0726
    Cell Significance Index: -8.3200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0858
    Cell Significance Index: -1.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1235
    Cell Significance Index: -14.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1241
    Cell Significance Index: -24.9000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.1296
    Cell Significance Index: -0.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1312
    Cell Significance Index: -16.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1419
    Cell Significance Index: -20.6200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1477
    Cell Significance Index: -4.7300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1771
    Cell Significance Index: -8.9500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1781
    Cell Significance Index: -2.4300
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.1815
    Cell Significance Index: -1.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2094
    Cell Significance Index: -14.8100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2125
    Cell Significance Index: -2.2000
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.2211
    Cell Significance Index: -2.1000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2279
    Cell Significance Index: -26.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2381
    Cell Significance Index: -13.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2399
    Cell Significance Index: -24.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2419
    Cell Significance Index: -11.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2561
    Cell Significance Index: -5.3600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2744
    Cell Significance Index: -21.7300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2774
    Cell Significance Index: -2.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3028
    Cell Significance Index: -18.6100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.3281
    Cell Significance Index: -3.3100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.3528
    Cell Significance Index: -4.9600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3754
    Cell Significance Index: -19.7100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3818
    Cell Significance Index: -25.6800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.4192
    Cell Significance Index: -5.8800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4241
    Cell Significance Index: -27.3600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Iron Ion Transporter**: The SLC40A1 protein is a ferrous iron transmembrane transporter, responsible for exporting iron ions from cells. 2. **Cell Type Specificity**: The gene is expressed in various cell types, including Kupffer cells, interstitial cells of the ovary, and erythroid progenitor cells. 3. **Disorder Association**: Mutations in the SLC40A1 gene are associated with Aceruloplasminemia (ACU) and Hemochromatosis Type 4 (HFE4). 4. **Regulatory Functions**: The SLC40A1 protein is involved in the regulation of apoptotic processes, transcriptional regulation, and the transport of small molecules across cell membranes. **Pathways and Functions** 1. **Iron Ion Homeostasis**: The SLC40A1 protein plays a crucial role in maintaining iron ion homeostasis within cells by exporting iron ions across the plasma membrane. 2. **Apoptotic Regulation**: The SLC40A1 protein is involved in the regulation of apoptotic processes, acting as a negative regulator of apoptosis. 3. **Transcriptional Regulation**: The SLC40A1 protein acts as a positive regulator of transcription by RNA polymerase II. 4. **Small Molecule Transport**: The SLC40A1 protein is responsible for the transport of small molecules, including bile salts, organic acids, metal ions, and amine compounds, across cell membranes. 5. **Cellular Localization**: The SLC40A1 protein is localized to the plasma membrane and is involved in the establishment of localization in cells. **Clinical Significance** 1. **Aceruloplasminemia (ACU)**: Mutations in the SLC40A1 gene lead to Aceruloplasminemia, a rare genetic disorder characterized by iron accumulation in the body. 2. **Hemochromatosis Type 4 (HFE4)**: Mutations in the SLC40A1 gene are also associated with Hemochromatosis Type 4, a form of hereditary hemochromatosis. 3. **Iron Ion Transport Disorders**: The SLC40A1 gene is involved in the regulation of iron ion transport, and mutations in the gene can lead to iron ion transport disorders. 4. **Apoptotic Regulation Disorders**: The SLC40A1 protein is involved in the regulation of apoptotic processes, and mutations in the gene can lead to apoptotic regulation disorders. In conclusion, the SLC40A1 gene plays a crucial role in maintaining iron ion homeostasis, regulating apoptotic processes, and transporting small molecules across cell membranes. Mutations in the SLC40A1 gene are associated with two distinct disorders: Aceruloplasminemia and Hemochromatosis Type 4. Understanding the functions and clinical significance of the SLC40A1 gene is essential for the development of novel therapeutic strategies for iron ion transport and apoptotic regulation disorders.

Genular Protein ID: 636047882

Symbol: S40A1_HUMAN

Name: Ferroportin-1

UniProtKB Accession Codes:

Q9NP59 Q6FI62 Q7Z4F8 Q8IVB2 Q9NRL0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 16 EMDB 8 Ensembl 1 ExpressionAtlas 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 5 RefSeq 1 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10747949

Title: A novel mammalian iron-regulated protein involved in intracellular iron metabolism.

PubMed ID: 10747949

DOI: 10.1074/jbc.m000713200

PubMed ID: 10882071

Title: A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.

PubMed ID: 10882071

DOI: 10.1016/s1097-2765(00)80425-6

PubMed ID: 10693807

Title: Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter.

PubMed ID: 10693807

DOI: 10.1038/35001596

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15338274

Title: Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

PubMed ID: 15338274

DOI: 10.1007/s00439-004-1166-y

PubMed ID: 15692071

Title: In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.

PubMed ID: 15692071

DOI: 10.1182/blood-2004-11-4502

PubMed ID: 22178646

Title: The iron transporter ferroportin can also function as a manganese exporter.

PubMed ID: 22178646

DOI: 10.1016/j.bbamem.2011.12.002

PubMed ID: 24304836

Title: Functional properties of human ferroportin, a cellular iron exporter reactive also with cobalt and zinc.

PubMed ID: 24304836

DOI: 10.1152/ajpcell.00348.2013

PubMed ID: 22682227

Title: Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.

PubMed ID: 22682227

DOI: 10.1016/j.cmet.2012.03.018

PubMed ID: 23219802

Title: Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains.

PubMed ID: 23219802

DOI: 10.1016/j.bbamem.2012.11.030

PubMed ID: 29237594

Title: Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

PubMed ID: 29237594

DOI: 10.1182/blood-2017-05-786590

PubMed ID: 29792530

Title: Manganese transport and toxicity in polarized WIF-B hepatocytes.

PubMed ID: 29792530

DOI: 10.1152/ajpgi.00103.2018

PubMed ID: 29599243

Title: Erythrocytic ferroportin reduces intracellular iron accumulation, hemolysis, and malaria risk.

PubMed ID: 29599243

DOI: 10.1126/science.aal2022

PubMed ID: 30247984

Title: Ferroportin disease mutations influence manganese accumulation and cytotoxicity.

PubMed ID: 30247984

DOI: 10.1096/fj.201800831r

PubMed ID: 37277838

Title: Apo- and holo-transferrin differentially interact with hephaestin and ferroportin in a novel mechanism of cellular iron release regulation.

PubMed ID: 37277838

DOI: 10.1186/s12929-023-00934-2

PubMed ID: 32814342

Title: Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.

PubMed ID: 32814342

DOI: 10.1038/s41586-020-2668-z

PubMed ID: 11518736

Title: Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

PubMed ID: 11518736

DOI: 10.1172/jci13468

PubMed ID: 11431687

Title: A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

PubMed ID: 11431687

DOI: 10.1038/90038

PubMed ID: 12091366

Title: Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.

PubMed ID: 12091366

DOI: 10.1182/blood.v100.2.692

PubMed ID: 12091367

Title: Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).

PubMed ID: 12091367

DOI: 10.1182/blood-2001-11-0132

PubMed ID: 12123233

Title: A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

PubMed ID: 12123233

DOI: 10.1182/blood-2002-03-0693

PubMed ID: 12406098

Title: Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

PubMed ID: 12406098

DOI: 10.1046/j.1365-2141.2002.03946.x

PubMed ID: 12730114

Title: Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (SLC11A3) mutations.

PubMed ID: 12730114

DOI: 10.1182/blood-2003-02-0439

PubMed ID: 14636642

Title: Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.

PubMed ID: 14636642

DOI: 10.1016/s1079-9796(03)00164-5

PubMed ID: 12865285

Title: A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.

PubMed ID: 12865285

DOI: 10.1136/gut.52.8.1215

PubMed ID: 12857562

Title: 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.

PubMed ID: 12857562

PubMed ID: 12873829

Title: Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.

PubMed ID: 12873829

DOI: 10.1016/s0168-8278(03)00148-x

PubMed ID: 14757427

Title: The ferroportin disease.

PubMed ID: 14757427

DOI: 10.1016/j.bcmd.2003.08.003

PubMed ID: 15466004

Title: Recent advances in understanding haemochromatosis: a transition state.

PubMed ID: 15466004

DOI: 10.1136/jmg.2004.020644

PubMed ID: 16351644

Title: Genetic and clinical heterogeneity of ferroportin disease.

PubMed ID: 16351644

DOI: 10.1111/j.1365-2141.2005.05815.x

Sequence Information:

  • Length: 571
  • Mass: 62542
  • Checksum: E4D6B5594C904959
  • Sequence:
    • MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL VELYGNSLLL 
TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN VSVILCGIIL MMVFLHKHEL 
LTMYHGWVLT SCYILIITIA NIANLASTAT AITIQRDWIV VVAGEDRSKL ANMNATIRRI 
DQLTNILAPM AVGQIMTFGS PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK 
EEETELKQLN LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV 
SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA ITGIMGTVAF 
TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL SVSPFEDIRS RFIQGESITP 
TKIPEITTEI YMSNGSNSAN IVPETSPESV PIISVSLLFA GVIAARIGLW SFDLTVTQLL 
QENVIESERG IINGVQNSMN YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR 
FAQNTLGNKL FACGPDAKEV RKENQANTSV V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.