Hepcidin

Details

Name
Hepcidin
Synonyms
  • HEPC
  • LEAP-1
  • LEAP1
  • Liver-expressed antimicrobial peptide 1
  • PLTR
  • Putative liver tumor regressor
Gene Name
HAMP
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052288|Hepcidin
MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRD
THFPICIFCCGCCHRSKCGMCCKT
Number of residues
84
Molecular Weight
9408.075
Theoretical pI
Not Available
GO Classification
Functions
hormone activity / iron ion transmembrane transporter inhibitor activity / signaling receptor binding
Processes
acute-phase response / aging / antimicrobial humoral immune response mediated by antimicrobial peptide / cellular iron ion homeostasis / cellular response to bile acid / cellular response to interleukin-6 / cellular response to lipopolysaccharide / cellular response to tumor necrosis factor / cellular response to X-ray / defense response to bacterium / defense response to fungus / defense response to Gram-negative bacterium / defense response to Gram-positive bacterium / immune response / killing of cells of other organism / liver regeneration / multicellular organismal iron ion homeostasis / negative regulation of intestinal absorption / negative regulation of ion transmembrane transporter activity / negative regulation of iron export across plasma membrane / negative regulation of iron ion transmembrane transport / negative regulation of iron ion transmembrane transporter activity / negative regulation of transcription by RNA polymerase II / positive regulation of cell growth involved in cardiac muscle cell development / positive regulation of protein polyubiquitination / positive regulation of receptor catabolic process / positive regulation of receptor internalization / response to erythropoietin / response to ethanol / response to iron ion / response to iron ion starvation / response to vitamin A / response to zinc ion
Components
apical cortex / cell / extracellular region / extracellular space / intercalated disc
General Function
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).
Specific Function
Hormone activity
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Secreted
Gene sequence
>lcl|BSEQ0052289|Hepcidin (HAMP)
ATGGCACTGAGCTCCCAGATCTGGGCCGCTTGCCTCCTGCTCCTCCTCCTCCTCGCCAGC
CTGACCAGTGGCTCTGTTTTCCCACAACAGACGGGACAACTTGCAGAGCTGCAACCCCAG
GACAGAGCTGGAGCCAGGGCCAGCTGGATGCCCATGTTCCAGAGGCGAAGGAGGCGAGAC
ACCCACTTCCCCATCTGCATTTTCTGCTGCGGCTGCTGTCATCGATCAAAGTGTGGGATG
TGCTGCAAGACGTAG
Chromosome Location
19
Locus
19q13.12
External Identifiers
ResourceLink
UniProtKB IDP81172
UniProtKB Entry NameHEPC_HUMAN
HGNC IDHGNC:15598
General References
  1. Park CH, Valore EV, Waring AJ, Ganz T: Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2001 Mar 16;276(11):7806-10. doi: 10.1074/jbc.M008922200. Epub 2000 Dec 11. [Article]
  2. Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K: LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett. 2000 Sep 1;480(2-3):147-50. doi: 10.1016/s0014-5793(00)01920-7. [Article]
  3. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [Article]
  4. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [Article]
  5. 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]
  6. Kluver E, Schulz A, Forssmann WG, Adermann K: Chemical synthesis of beta-defensins and LEAP-1/hepcidin. J Pept Res. 2002 Jun;59(6):241-8. doi: 10.1034/j.1399-3011.2002.00980.x. [Article]
  7. Ganz T, Nemeth E: Hepcidin and iron homeostasis. Biochim Biophys Acta. 2012 Sep;1823(9):1434-43. doi: 10.1016/j.bbamcr.2012.01.014. Epub 2012 Jan 26. [Article]
  8. Hunter HN, Fulton DB, Ganz T, Vogel HJ: The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. J Biol Chem. 2002 Oct 4;277(40):37597-603. doi: 10.1074/jbc.M205305200. Epub 2002 Jul 22. [Article]
  9. Jordan JB, Poppe L, Haniu M, Arvedson T, Syed R, Li V, Kohno H, Kim H, Schnier PD, Harvey TS, Miranda LP, Cheetham J, Sasu BJ: Hepcidin revisited, disulfide connectivity, dynamics, and structure. J Biol Chem. 2009 Sep 4;284(36):24155-67. doi: 10.1074/jbc.M109.017764. Epub 2009 Jun 24. [Article]
  10. Biasiotto G, Belloli S, Ruggeri G, Zanella I, Gerardi G, Corrado M, Gobbi E, Albertini A, Arosio P: Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin Chem. 2003 Dec;49(12):1981-8. [Article]
  11. Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ: Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet. 2003 Sep 1;12(17):2241-7. doi: 10.1093/hmg/ddg225. Epub 2003 Jul 15. [Article]
  12. Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M, Gasparini P, Piperno A, Camaschella C: Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 2004 Mar 15;103(6):2407-9. doi: 10.1182/blood-2003-10-3390. Epub 2003 Nov 20. [Article]
  13. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C: HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood. 2004 Apr 1;103(7):2835-40. doi: 10.1182/blood-2003-10-3366. Epub 2003 Dec 11. [Article]
  14. Delatycki MB, Allen KJ, Gow P, MacFarlane J, Radomski C, Thompson J, Hayden MR, Goldberg YP, Samuels ME: A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Clin Genet. 2004 May;65(5):378-83. doi: 10.1111/j.0009-9163.2004.00254.x. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB13257Ferrous sulfate anhydrousapprovedunknownsubstrateDetails