Copper metabolism (Homo sapiens)

From WikiPathways

Revision as of 10:52, 15 March 2022 by Leo-kal (Talk | contribs)
Jump to: navigation, search
vesiclevesicleMEDNIKs diseaseEnterocyteMenkes diseaseOccipital horn syndromeBloodBileWilson disease4321DMT1COPPER (II) IONDMT1CTR1ATP7AATP7BReductase5COPPER (I) IONHepatocyteCTR1COPPER (I) IONCOPPER (I) IONCOPPER (I) IONCOPPER (I) IONCOPPER (I) IONCOPPER (II) IONCOPPER (II) IONCOPPER (II) IONX-linked distal spinal muscular atrophyReductase2COPPER (I) ION5COPPER (I) ION


Description

Disorders of copper metabolism

Copper is an essential trace element required for the functioning of metalloenzymes. Copper is ingested through diet, absorbed by enterocytes in the intestinal walls, and sent to hepatocytes via the hepatic portal system. The 4 main diseases that disrupts the uptake/ excretion of copper are mentioned in the metabolic pathway diagram.

This pathway model was constructed using chapter 39 of the book "Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (first edition)" by Blau (ISBN 3642403360)

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

  1. Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB; ''Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.''; Eur J Hum Genet, 2014 PubMed Europe PMC Scholia
  2. Bertini I, Rosato A; ''Menkes disease.''; Cell Mol Life Sci, 2008 PubMed Europe PMC Scholia
  3. Kar S, Sen S, Maji S, Saraf D, Ruturaj, Paul R, Dutt S, Mondal B, Rodriguez-Boulan E, Schreiner R, Sengupta D, Gupta A; ''Copper(II) import and reduction are dependent on His-Met clusters in the extracellular amino terminus of human copper transporter-1.''; J Biol Chem, 2022 PubMed Europe PMC Scholia
  4. Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML; ''Wilson disease.''; Nat Rev Dis Primers, 2018 PubMed Europe PMC Scholia
  5. Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C; ''MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.''; Brain, 2013 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128212view03:08, 29 January 2024EweitzUse standard shape, shorten names per convention
128211view03:03, 29 January 2024EweitzSoften color, use rounded rectangle for disease
128210view02:50, 29 January 2024EweitzOntology Term : 'hepatocyte' added !
128209view02:49, 29 January 2024EweitzOntology Term : 'enterocyte' added !
122491view07:37, 13 April 2022DeSlUpdated description
122489view07:33, 13 April 2022DeSlConverted arrows to mim-translocation, added legend, layout cleanup.
122226view10:12, 16 March 2022Leo-kalUpdated DMT1 identifier to the correct one
122184view10:52, 15 March 2022Leo-kalModified description
122183view10:48, 15 March 2022Leo-kalOntology Term : 'MEDNIK syndrome' added !
122182view10:48, 15 March 2022Leo-kalOntology Term : 'Wilson disease' added !
122181view10:47, 15 March 2022Leo-kalOntology Term : 'X-linked distal spinal muscular atrophy 3' added !
122180view10:43, 15 March 2022Leo-kalOntology Term : 'Menkes disease' added !
122179view10:43, 15 March 2022Leo-kalOntology Term : 'occipital horn syndrome' added !
122104view23:18, 10 March 2022DeSllayout changes to transporter protein interactions
122103view23:16, 10 March 2022DeSlSmall layout changes
122070view16:23, 9 March 2022Leo-kalCopper exported out of cell
122068view14:47, 9 March 2022Leo-kalupdated decription for reductase
121979view19:32, 8 March 2022Leo-kalminor visual adjustments
121850view17:27, 7 March 2022Leo-kalAdded disease (x-linked spinal musclular atrophy), correct metabolite id, interaction
121776view00:46, 5 March 2022Khanspersconnected interactions
121640view08:28, 23 February 2022Leo-kalModified description
121598view18:08, 21 February 2022AndraOntology Term : 'copper homeostasis pathway' added !
121568view13:57, 21 February 2022Leo-kaladded DMT channel, reductase, movement of vesicle into blood/bile
121502view23:01, 18 February 2022Leo-kaladded vesicles
121362view12:51, 16 February 2022Leo-kal
121345view19:49, 15 February 2022Leo-kalNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ATP7AGeneProductENSG00000165240 (Ensembl)
ATP7BGeneProductENSG00000123191 (Ensembl)
COPPER (I) IONMetaboliteCHEBI:49552 (ChEBI)
COPPER (II) IONMetaboliteCHEBI:29036 (ChEBI)
CTR1GeneProductENSG00000136868 (Ensembl) obtained from SLC31A1
DMT1 GeneProductENSG00000110911 (Ensembl) SLC11A2 is the gene for DMT1 used in copper uptake
DMT1GeneProductENSG00000110911 (Ensembl) SLC11A2 is the gene for DMT1 used in copper uptake
Reductase
  • The reductase used for copper reduction prior to entering the cell via CTR1 channels for mammals are unknown (5). Two possible RHEA IDs: 22149 and 18702
  • Type your comment here

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5189"
Personal tools