Copper metabolism (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none vesiclevesicleEnterocyteWilson diseaseMenkes diseaseOccipital horn syndromeMedkins diseaseATP7AATP7Bcopper (Cu2+)CTR1copper (Cu2+)HepatocyteCTR1copper (Cu2+)copper (Cu2+)copper (Cu2+)copper (Cu2+)copper (Cu2+)copper (Cu2+)Name: Copper metabolismOrganism: Homo sapiens


Description

Disorders of copper metabolism

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Quality Tags

Image:MissingXref.pngAnnotate nodes
Image:Curated.pngReview changes for Approved
Image:Wplogo_31.pngCommunity: Inborn Errors of Metabolism (IEM)
Image:Wplogo_31.pngCommunity: Rare Diseases

Ontology Terms

 

Bibliography

  1. Bertini I, Rosato A; ''Menkes disease.''; Cell Mol Life Sci, 2008 PubMed Europe PMC Scholia
  2. 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
  3. 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
  4. 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
  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
136358
Approved
RARE
view00:02, 30 January 2025Khanspers
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 !
122491
IEM
view07:37, 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

Name  ↓Type  ↓Database reference  ↓Comment  ↓
ATP7AGeneProductENSG00000165240 (Ensembl)
ATP7BGeneProductENSG00000123191 (Ensembl)
CTR1GeneProductENSG00000136868 (Ensembl)
  • obtained from SLC31A1
  • Type your comment here
copper (Cu2+) MetaboliteCHEBI:28694 (ChEBI)
copper (Cu2+)MetaboliteCHEBI:28694 (ChEBI)

Annotated Interactions

No annotated interactions

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