Copper metabolism (WP5189)

Homo sapiens

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This pathway shows copper metabolism and translocation for two cell types (enterocytes and hepatocytes), as well as associated disorders for transportation of copper to vesicles. 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. 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)

Authors

Leo Kalapurackal , Andra Waagmeester , Kristina Hanspers , Denise Slenter , and Eric Weitz

Activity

last edited

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Cell Type Ontology

hepatocyte enterocyte

Pathway Ontology

copper homeostasis pathway

Disease Ontology

MEDNIK syndrome occipital horn syndrome X-linked distal spinal muscular atrophy 3 Menkes disease Wilson disease

Participants
Query Drugst.One

Label Type Compact URI Comment
Cu2+ Metabolite chebi:29036
Cu+ Metabolite chebi:49552
ATP7A GeneProduct ensembl:ENSG00000165240
ATP7B GeneProduct ensembl:ENSG00000123191
DMT1 GeneProduct ensembl:ENSG00000110911 SLC11A2 is the gene for DMT1 used in copper uptake
DMT1 GeneProduct ensembl:ENSG00000110911 SLC11A2 is the gene for DMT1 used in copper uptake
CTR1 GeneProduct ensembl:ENSG00000136868 obtained from SLC31A1

References

  1. Menkes disease. Bertini I, Rosato A. Cell Mol Life Sci. 2008 Jan;65(1):89–91. PubMed Europe PMC Scholia
  2. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, et al. Brain. 2013 Mar;136(Pt 3):872–81. PubMed Europe PMC Scholia
  3. Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, et al. Eur J Hum Genet. 2014 Apr;22(4):517–21. PubMed Europe PMC Scholia
  4. Wilson disease. Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Nat Rev Dis Primers. 2018 Sep 6;4(1):21. PubMed Europe PMC Scholia
  5. Copper(II) import and reduction are dependent on His-Met clusters in the extracellular amino terminus of human copper transporter-1. Kar S, Sen S, Maji S, Saraf D, Ruturaj, Paul R, et al. J Biol Chem. 2022 Mar;298(3):101631. PubMed Europe PMC Scholia