Solute carrier family 40 member 1

Details

Name
Solute carrier family 40 member 1
Synonyms
  • Ferroportin-1
  • FPN1
  • IREG1
  • Iron-regulated transporter 1
  • SLC11A3
Gene Name
SLC40A1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052286|Solute carrier family 40 member 1
MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLL
TAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHEL
LTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRI
DQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWKVYQKTPALAVKAGLK
EEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWV
SYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAF
TWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITP
TKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLL
QENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVLISVSFVAMGHIMYFR
FAQNTLGNKLFACGPDAKEVRKENQANTSVV
Number of residues
571
Molecular Weight
62541.55
Theoretical pI
Not Available
GO Classification
Functions
ferrous iron transmembrane transporter activity / identical protein binding / iron ion transmembrane transporter activity / peptide hormone binding
Processes
cellular iron ion homeostasis / endothelium development / iron ion export across plasma membrane / iron ion homeostasis / iron ion transmembrane transport / lymphocyte homeostasis / multicellular organismal iron ion homeostasis / negative regulation of apoptotic process / positive regulation of transcription by RNA polymerase II / regulation of transcription from RNA polymerase II promoter in response to iron / spleen trabecula formation
Components
basolateral plasma membrane / cell / cytoplasm / cytosol / integral component of membrane / integral component of plasma membrane / nucleoplasm / plasma membrane / synaptic vesicle
General 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).
Specific Function
Ferrous iron transmembrane transporter activity
Pfam Domain Function
Transmembrane Regions
12-34 58-80 93-115 125-147 299-321 341-363 370-392 450-472 492-514 519-541
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0052287|Solute carrier family 40 member 1 (SLC40A1)
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
Chromosome Location
2
Locus
2q32.2
External Identifiers
ResourceLink
UniProtKB IDQ9NP59
UniProtKB Entry NameS40A1_HUMAN
HGNC IDHGNC:10909
General References
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  2. 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. doi: 10.1016/s1097-2765(00)80425-6. [Article]
  3. 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. doi: 10.1038/35001596. [Article]
  4. 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. [Article]
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  7. 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. [Article]
  8. 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. doi: 10.1007/s00439-004-1166-y. Epub 2004 Aug 24. [Article]
  9. Rungaldier S, Oberwagner W, Salzer U, Csaszar E, Prohaska R: Stomatin interacts with GLUT1/SLC2A1, band 3/SLC4A1, and aquaporin-1 in human erythrocyte membrane domains. Biochim Biophys Acta. 2013 Mar;1828(3):956-66. doi: 10.1016/j.bbamem.2012.11.030. Epub 2012 Dec 3. [Article]
  10. 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. doi: 10.1172/JCI13468. [Article]
  11. 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. doi: 10.1038/90038. [Article]
  12. 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. doi: 10.1182/blood.v100.2.692. [Article]
  13. 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. doi: 10.1182/blood-2001-11-0132. [Article]
  14. 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. doi: 10.1182/blood-2002-03-0693. [Article]
  15. 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. doi: 10.1046/j.1365-2141.2002.03946.x. [Article]
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  18. 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. doi: 10.1136/gut.52.8.1215. [Article]
  19. 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. [Article]
  20. 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. doi: 10.1016/s0168-8278(03)00148-x. [Article]
  21. Pietrangelo A: The ferroportin disease. Blood Cells Mol Dis. 2004 Jan-Feb;32(1):131-8. doi: 10.1016/j.bcmd.2003.08.003. [Article]
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  23. 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. doi: 10.1111/j.1365-2141.2005.05815.x. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB13257Ferrous sulfate anhydrousapprovedunknownsubstrateDetails
DB14520Tetraferric tricitrate decahydrateapprovedunknownsubstrateDetails