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Identification
HMDB Protein ID HMDBP02321
Secondary Accession Numbers
  • 7806
Name Solute carrier family 40 member 1
Synonyms
  1. Ferroportin-1
  2. Iron-regulated transporter 1
Gene Name SLC40A1
Protein Type Unknown
Biological Properties
General Function Involved in iron ion transmembrane transporter activity
Specific Function May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin)
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
di-, tri-valent inorganic cation transmembrane transporter activity
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
cation transmembrane transporter activity
inorganic cation transmembrane transporter activity
iron ion transmembrane transporter activity
transporter activity
Process
establishment of localization
transport
ion transport
cation transport
metal ion transport
transition metal ion transport
iron ion transport
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:2
Locus 2q32
SNPs SLC40A1
Gene Sequence
>1716 bp
ATGACCAGGGCGGGAGATCACAACCGCCAGAGAGGATGCTGTGGATCCTTGGCCGACTAC
CTGACCTCTGCAAAATTCCTTCTCTACCTTGGTCATTCTCTCTCTACTTGGGGAGATCGG
ATGTGGCACTTTGCGGTGTCTGTGTTTCTGGTAGAGCTCTATGGAAACAGCCTCCTTTTG
ACAGCAGTCTACGGGCTGGTGGTGGCAGGGTCTGTTCTGGTCCTGGGAGCCATCATCGGT
GACTGGGTGGACAAGAATGCTAGACTTAAAGTGGCCCAGACCTCGCTGGTGGTACAGAAT
GTTTCAGTCATCCTGTGTGGAATCATCCTGATGATGGTTTTCTTACATAAACATGAGCTT
CTGACCATGTACCATGGATGGGTTCTCACTTCCTGCTATATCCTGATCATCACTATTGCA
AATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTGGATTGTT
GTTGTTGCAGGAGAAGACAGAAGCAAACTAGCAAATATGAATGCCACAATACGAAGGATT
GACCAGTTAACCAACATCTTAGCCCCCATGGCTGTTGGCCAGATTATGACATTTGGCTCC
CCAGTCATCGGCTGTGGCTTTATTTCGGGATGGAACTTGGTATCCATGTGCGTGGAGTAC
GTTCTGCTCTGGAAGGTTTACCAGAAAACCCCAGCTCTAGCTGTGAAAGCTGGTCTTAAA
GAAGAGGAAACTGAATTGAAACAGCTGAATTTACACAAAGATACTGAGCCAAAACCCCTG
GAGGGAACTCATCTAATGGGTGTGAAAGACTCTAACATCCATGAGCTTGAACATGAGCAA
GAGCCTACTTGTGCCTCCCAGATGGCTGAGCCCTTCCGTACCTTCCGAGATGGATGGGTC
TCCTACTACAACCAGCCTGTGTTTCTGGCTGGCATGGGTCTTGCTTTCCTTTATATGACT
GTCCTGGGCTTTGACTGCATCACCACAGGGTACGCCTACACTCAGGGACTGAGTGGTTCC
ATCCTCAGTATTTTGATGGGAGCATCAGCTATAACTGGAATAATGGGAACTGTAGCTTTT
ACTTGGCTACGTCGAAAATGTGGTTTGGTTCGGACAGGTCTGATCTCAGGATTGGCACAG
CTTTCCTGTTTGATCTTGTGTGTGATCTCTGTATTCATGCCTGGAAGCCCCCTGGACTTG
TCCGTTTCTCCTTTTGAAGATATCCGATCAAGGTTCATTCAAGGAGAGTCAATTACACCT
ACCAAGATACCTGAAATTACAACTGAAATATACATGTCTAATGGGTCTAATTCTGCTAAT
ATTGTCCCGGAGACAAGTCCTGAATCTGTGCCCATAATCTCTGTCAGTCTGCTGTTTGCA
GGCGTCATTGCTGCTAGAATCGGTCTTTGGTCCTTTGATTTAACTGTGACACAGTTGCTG
CAAGAAAATGTAATTGAATCTGAAAGAGGCATTATAAATGGTGTACAGAACTCCATGAAC
TATCTTCTTGATCTTCTGCATTTCATCATGGTCATCCTGGCTCCAAATCCTGAAGCTTTT
GGCTTGCTCGTATTGATTTCAGTCTCCTTTGTGGCAATGGGCCACATTATGTATTTCCGA
TTTGCCCAAAATACTCTGGGAAACAAGCTCTTTGCTTGCGGTCCTGATGCAAAAGAAGTT
AGGAAGGAAAATCAAGCAAATACATCTGTTGTTTGA
Protein Properties
Number of Residues 571
Molecular Weight 62541.6
Theoretical pI 6.5
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 12-34
  • 58-80
  • 93-115
  • 125-147
  • 299-321
  • 341-363
  • 370-392
  • 450-472
  • 492-514
  • 519-541
Protein Sequence
>Solute carrier family 40 member 1
MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLL
TAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHEL
LTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRI
DQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWKVYQKTPALAVKAGLK
EEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWV
SYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAF
TWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITP
TKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLL
QENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVLISVSFVAMGHIMYFR
FAQNTLGNKLFACGPDAKEVRKENQANTSVV
GenBank ID Protein 7657100
UniProtKB/Swiss-Prot ID Q9NP59
UniProtKB/Swiss-Prot Entry Name S40A1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_014585.5
GeneCard ID SLC40A1
GenAtlas ID SLC40A1
HGNC ID HGNC:10909
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed:17924679 ]
  3. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001 Mar;11(3):422-35. [PubMed:11230166 ]
  4. Abboud S, Haile DJ: A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem. 2000 Jun 30;275(26):19906-12. [PubMed:10747949 ]
  5. McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, Miret S, Bomford A, Peters TJ, Farzaneh F, Hediger MA, Hentze MW, Simpson RJ: A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell. 2000 Feb;5(2):299-309. [PubMed:10882071 ]
  6. Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, Drejer A, Barut B, Zapata A, Law TC, Brugnara C, Lux SE, Pinkus GS, Pinkus JL, Kingsley PD, Palis J, Fleming MD, Andrews NC, Zon LI: Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000 Feb 17;403(6771):776-81. [PubMed:10693807 ]
  7. Zaahl MG, Merryweather-Clarke AT, Kotze MJ, van der Merwe S, Warnich L, Robson KJ: Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum Genet. 2004 Oct;115(5):409-17. Epub 2004 Aug 24. [PubMed:15338274 ]
  8. Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, Gasparini P, Andrews NC, Pietrangelo A: Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001 Aug;108(4):619-23. [PubMed:11518736 ]
  9. Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P: A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001 Jul;28(3):213-4. [PubMed:11431687 ]
  10. Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, Subramaniam VN: Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002 Jul 15;100(2):692-4. [PubMed:12091366 ]
  11. Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS: Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood. 2002 Jul 15;100(2):695-7. [PubMed:12091367 ]
  12. Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, Piga A, Mackie PH, Robson KJ, Camaschella C: A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood. 2002 Jul 15;100(2):733-4. [PubMed:12123233 ]
  13. Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, Paroni R, Romtsou K, Levi S, Ferrari M, Arosio P, Christakis J: Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol. 2002 Nov;119(2):539-46. [PubMed:12406098 ]
  14. Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C: Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood. 2003 Sep 1;102(5):1904-10. Epub 2003 May 1. [PubMed:12730114 ]
  15. Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo IT, Gomo ZA, Moyo VM, Rouault TA, MacPhail P, Pietrangelo A: Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):299-304. [PubMed:14636642 ]
  16. Arden KE, Wallace DF, Dixon JL, Summerville L, Searle JW, Anderson GJ, Ramm GA, Powell LW, Subramaniam VN: A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut. 2003 Aug;52(8):1215-7. [PubMed:12865285 ]
  17. Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, D'Adamo AP, De Braekeleer M, Gasparini P: 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. Haematologica. 2003 Jul;88(7):824-6. [PubMed:12857562 ]
  18. Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, de Lajarte-Thirouard AS, Turlin B, Le Gall JY, Cadet E, Rochette J, David V, Brissot P: Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol. 2003 Aug;39(2):286-9. [PubMed:12873829 ]
  19. Pietrangelo A: The ferroportin disease. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):131-8. [PubMed:14757427 ]
  20. Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, Weatherall DJ, Rochette J: Recent advances in understanding haemochromatosis: a transition state. J Med Genet. 2004 Oct;41(10):721-30. [PubMed:15466004 ]
  21. Cremonesi L, Forni GL, Soriani N, Lamagna M, Fermo I, Daraio F, Galli A, Pietra D, Malcovati L, Ferrari M, Camaschella C, Cazzola M: Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol. 2005 Dec;131(5):663-70. [PubMed:16351644 ]