Iron metabolism disorders (Homo sapiens)

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Intestinal epithelial cellEndosome1VesicleInternalizationBloodLow pHIntestineHereditaryHemochromatosis(type 1)Apical sideBasal sideHAMPHFETFR2CPHJVSLC11A2STEAP3726477TFTFRC5SLC40A14HEPHFe3+CYBRD13, 4Fe2+Fe2+Fe2+Fe2+Fe3+TFFe3+Fe3+TFFe3+Fe3+TFRC5TFFe3+Fe3+TFRC5TFFe3+Fe3+TFRC5Fe2+SLC11A2Fe2+4HereditaryHemochromatosis(type 2a)HereditaryHemochromatosis(type 2b)HereditaryHemochromatosis(type 3)AtransferrinemiaSLC40A1Internalization


Description

.... This pathway was inspired by Chapter 40 (iron metabolism disorders) of the book of Blau.

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Quality Tags

Ontology Terms

 

Bibliography

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  1. Jose Irimia-Dominguez, Chen Sun, Kunpeng Li, Barry B Muhoberac, Grace I Hallinan, Holly J Garringer, Bernardino Ghetti, Wen Jiang, Ruben Vidal; ''Cryo-EM structures and functional characterization of homo- and heteropolymers of human ferritin variants''; https://pubmed.ncbi.nlm.nih.gov/33244127/, 2020 PubMed Europe PMC Scholia
  2. Kilian LaFreniere, Vikas Gupta; ''Idiopathic Pulmonary Hemosiderosis''; https://pubmed.ncbi.nlm.nih.gov/32644388/, 2021 PubMed Europe PMC Scholia
  3. Wallace DF; ''The Regulation of Iron Absorption and Homeostasis.''; Clin Biochem Rev, 2016 PubMed Europe PMC Scholia
  4. Sharp P, Srai SK; ''Molecular mechanisms involved in intestinal iron absorption.''; World J Gastroenterol, 2007 PubMed Europe PMC Scholia
  5. Nemeth E, Ganz T; ''The role of hepcidin in iron metabolism.''; Acta Haematol, 2009 PubMed Europe PMC Scholia
  6. Wang B, Wang XP; ''Does Ceruloplasmin Defend Against Neurodegenerative Diseases?''; Curr Neuropharmacol, 2019 PubMed Europe PMC Scholia
  7. Blau N, Duran M, Gibson KM, Dionisi-Vici C; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 40''; ISBN 978-3-642-40337-8, 2014
  8. Barton JC, Edwards CQ, Acton RT; ''HFE gene: Structure, function, mutations, and associated iron abnormalities.''; Gene, 2015 PubMed Europe PMC Scholia
  9. Kourosh Honarmand Ebrahimi, Eckhard Bill, Peter-Leon Hagedoorn, Wilfred R Hagen; ''The catalytic center of ferritin regulates iron storage via Fe(II)-Fe(III) displacement''; https://pubmed.ncbi.nlm.nih.gov/23001032/, 2012 PubMed Europe PMC Scholia
  10. Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS; ''A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.''; Nat Genet, 2016 PubMed Europe PMC Scholia
  11. Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J Salas, José A Sánchez-Alcázar; ''Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives''; https://pubmed.ncbi.nlm.nih.gov/33952316/, 2021 PubMed Europe PMC Scholia
  12. Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V; ''Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.''; Mol Genet Metab, 2012 PubMed Europe PMC Scholia
  13. Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yépez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rötig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M; ''Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.''; Am J Hum Genet, 2020 PubMed Europe PMC Scholia
  14. Gunshin H, Fujiwara Y, Custodio AO, Direnzo C, Robine S, Andrews NC; ''Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver.''; J Clin Invest, 2005 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128276view00:49, 30 January 2024EweitzTailor node heights, standardize case, improve cell label placement
128275view00:44, 30 January 2024EweitzSoften color, use rounded rectangle for disease nodes
122518view12:51, 13 April 2022DeSlConverted Unkown DataNodes to textLabel.
122057view13:34, 9 March 2022AmauryPelzerUpdated a Rhea ID (CYBRD1)
122053view13:19, 9 March 2022AmauryPelzerFixed a reactome ID (TFRC)
122052view13:01, 9 March 2022AmauryPelzerOntology Term : 'mitochondrial complex III deficiency' added !
122035view10:53, 9 March 2022AmauryPelzerFixed CP Rhea ID
122015view09:49, 9 March 2022AmauryPelzerOntology Term : 'hemosiderosis' added !
122014view09:48, 9 March 2022AmauryPelzerFixed bugs with changes in IDs
122007view09:35, 9 March 2022AmauryPelzerRemoved extra DB prefixes in the IDs
122005view09:30, 9 March 2022AmauryPelzerFixed Rhea ID
122004view09:26, 9 March 2022AmauryPelzerAdded the 3 diseases linked to CP
121967view17:21, 8 March 2022AmauryPelzerModified description
121966view17:18, 8 March 2022AmauryPelzerModified description
121964view17:10, 8 March 2022AmauryPelzerAdded UQCRFS1 and related disease
121960view16:56, 8 March 2022AmauryPelzerOntology Term : 'hypochromic microcytic anemia' added !
121959view16:52, 8 March 2022AmauryPelzerOntology Term : 'immunodeficiency 46' added !
121958view16:51, 8 March 2022AmauryPelzerOntology Term : 'hyperferritinemia-cataract syndrome' added !
121957view16:49, 8 March 2022AmauryPelzerOntology Term : 'pulmonary hemosiderosis' added !
121956view16:49, 8 March 2022AmauryPelzerOntology Term : 'GRACILE syndrome' added !
121955view16:48, 8 March 2022AmauryPelzerOntology Term : 'aceruloplasminemia' added !
121954view16:48, 8 March 2022AmauryPelzerOntology Term : 'neurodegeneration with brain iron accumulation' added !
121953view16:48, 8 March 2022AmauryPelzerOntology Term : 'neurodegeneration with brain iron accumulation 3' added !
121952view16:46, 8 March 2022AmauryPelzerOntology Term : 'hemochromatosis type 5' added !
121951view16:45, 8 March 2022AmauryPelzerOntology Term : 'hemochromatosis type 4' added !
121937view14:32, 8 March 2022AmauryPelzerChanged legend (graphic)
121936view14:30, 8 March 2022AmauryPelzerAdded ferrous and ferric cation complexes to legend
121935view14:23, 8 March 2022AmauryPelzerFixed interactions and complexes
121934view14:20, 8 March 2022AmauryPelzerFixed iron width and height
121933view14:12, 8 March 2022AmauryPelzerChanged legend (complex and translocation)
121932view14:00, 8 March 2022AmauryPelzerFixed non connected interactions
121931view13:57, 8 March 2022AmauryPelzerReverted back interactions with complexes
121930view13:53, 8 March 2022AmauryPelzerAdded some diseases and changed some interactions (with complexes)
121925view13:36, 8 March 2022AmauryPelzerChanged complex interactions and added text labels
121924view13:21, 8 March 2022AmauryPelzerAdded some Diseases
121921view12:49, 8 March 2022AmauryPelzerAdded PW nodes for PANK2 and BCS1L
121917view12:25, 8 March 2022AmauryPelzerAdded PANK2 info and fixed disease connections
121915view11:54, 8 March 2022AmauryPelzerRemoved CYBRD1 comment about DMT1
121914view11:50, 8 March 2022AmauryPelzerUpdated Blau reference
121671view09:14, 24 February 2022AmauryPelzerFixed unconnected interaction (STEAP3 related)
121670view09:13, 24 February 2022AmauryPelzerAdded Rhea ID for FTH1 related reactions.
121669view09:05, 24 February 2022AmauryPelzerCorrected mistakes in the text
121552view10:54, 21 February 2022AmauryPelzerUpdated ferritin arrows.
121516view16:49, 20 February 2022EmiliaAgasiAdded remaining diseases, swapped iron symbols, added missing connections, decreased overlapping of lines, added iron storage in ferritin ( FT ) and hemosiderin
121497view12:49, 18 February 2022EmiliaAgasiOntology Term : 'inborn error of metal metabolism pathway' added !
121496view12:48, 18 February 2022EmiliaAgasiOntology Term : 'inborn error of metabolism pathway' added !
121495view12:45, 18 February 2022EmiliaAgasiOntology Term : 'inherited metabolic disorder' added !
121494view12:42, 18 February 2022EmiliaAgasiOntology Term : 'iron uptake pathway' added !
121493view12:29, 18 February 2022EmiliaAgasiOntology Term : 'iron metabolism disease' added !
121492view12:28, 18 February 2022EmiliaAgasiOntology Term : 'native cell' added !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
CPGeneProductENSG00000047457 (Ensembl)
CYBRD1GeneProductENSG00000071967 (Ensembl) This is mentioned in the book as "an unknown ferric reductase (FR) but it is actually cytochrome b reductase 1 (CYBRD1, ENSG00000071967) as mentioned in the articles linked here.
Fe2+MetaboliteCHEBI:29033 (ChEBI)
Fe3+MetaboliteCHEBI:29034 (ChEBI)
HAMPGeneProductENSG00000105697 (Ensembl)
HEPHGeneProductENSG00000089472 (Ensembl)
HFEGeneProductENSG00000010704 (Ensembl)
HJVGeneProductENSG00000168509 (Ensembl)
SLC11A2GeneProductENSG00000110911 (Ensembl)
SLC40A1GeneProductENSG00000138449 (Ensembl)
STEAP3GeneProductENSG00000115107 (Ensembl)
TFGeneProductENSG00000091513 (Ensembl)
TFR2GeneProductENSG00000106327 (Ensembl)
TFRCGeneProductENSG00000072274 (Ensembl) This is named "transferrin receptor (TfR)" in the book or TFR1 but the gene name for this protein is TFRC (ENSG00000072274, P02786).

Annotated Interactions

No annotated interactions

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