Molybdenum cofactor (Moco) biosynthesis (WP4507)

Homo sapiens

This pathway visualises the Moco biosynthesis, which is used as a cofactor for several enzymes. Several diseases (MoCD type A, B and C) are clinically very similar to sulphite oxidase (SO) deficiency (see [https://www.wikipathways.org/index.php/Pathway:WP4504] for the pathway related to SO-deficiency). This pathway was inspired by Chapter 12 of the book of Blau (ISBN 3642403360 (978-3642403361)).

Authors

Denise Slenter , Egon Willighagen , Josien Landman , Irene Hemel , Finterly Hu , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Disease Ontology

xanthinuria molybdenum cofactor deficiency type B molybdenum cofactor deficiency molybdenum cofactor deficiency type C

Pathway Ontology

molybdenum cofactor deficiency pathway xanthinuria type I pathway xanthinuria type II pathway altered molybdenum cofactor biosynthetic pathway molybdenum cofactor biosynthetic pathway

Participants

Label Type Compact URI Comment
cPMP Metabolite chebi:52994
Moco Metabolite chebi:71306
MPT Metabolite chebi:44074 AKA metal-binding pterin
GTP Metabolite chebi:37565
Sulfite Metabolite chebi:26823
Xanthine Metabolite chebi:17712
MPT-AMP Metabolite chebi:62728 AKA adenylylated MPT
Sulfate Metabolite hmdb:HMDB0001448
urate Metabolite chebi:17775
R-OH Metabolite chebi:17478
Moco Metabolite chebi:21437
Moco Metabolite chebi:21437
Moco Metabolite chebi:21437
Moco Metabolite chebi:21437
Sulfite oxidase Protein uniprot:P51687
Gephyrin(G domain) Protein uniprot:Q9NQX3
MOCS1A Protein ensembl:ENSG00000124615
Amidoxime reducingcomponent Protein uniprot:Q969Z3
Xanthine oxidase Protein uniprot:P47989
Aldehyde oxidase Protein uniprot:Q06278
Sulfite oxidase Protein uniprot:P51687
Amidoxime reducingcomponent Protein uniprot:Q969Z3
Xanthine oxidase Protein uniprot:P47989
Aldehyde oxidase Protein uniprot:Q06278
MOCS2A Protein uniprot:O96007
MOCS2B Protein uniprot:O96033
Gephyrin(E domain) Protein uniprot:Q9NQX3

References

  1. Alternative splicing of bicistronic MOCS1 defines a novel mitochondrial protein maturation mechanism [Internet]. Mayr SJ, Röper J, Schwarz G. Cold Spring Harbor Laboratory; 2018. Available from: http://dx.doi.org/10.1101/429183 DOI Scholia
  2. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
  3. Synthesis of adenylated molybdopterin: an essential step for molybdenum insertion. Llamas A, Mendel RR, Schwarz G. J Biol Chem. 2004 Dec 31;279(53):55241–6. PubMed Europe PMC Scholia
  4. Molybdenum cofactor biosynthesis and deficiency. Schwarz G. Cell Mol Life Sci. 2005 Dec;62(23):2792–810. PubMed Europe PMC Scholia