Molybdenum cofactor (Moco) biosynthesis (Homo sapiens)

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2, 4Xanthinuria Type IMPTGTPMocoR=N-OHMOCS1AGephyrin(G domain)Sulfite oxidasecPMPSulfiteXanthineMPT-AMP3Amidoxime reducingcomponentXanthine oxidaseAldehyde oxidase33SulfateR-NHuric acidR-HR-OHSulfite oxidaseMocoAmidoxime reducingcomponentMocoXanthine oxidaseMocoAldehyde oxidaseMocoMOCS1ABMOCS2A1MOCS2BGephyrin(E domain)Sulphite oxidase deficiencyMoCD type AMoCD type BMoCD type CXanthinuria Type IIXanthinuria Type IXanthinuria Type II


Description

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 [1] for the pathway related to SO-deficiency).

This pathway was inspired by Chapter 12 of the book of Blau (ISBN 3642403360 (978-3642403361)).

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Quality Tags

Ontology Terms

 

Bibliography

  1. Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi-Vici; '''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases'''; Springer-Verlag Berlin Heidelberg, 2014
  2. Llamas A, Mendel RR, Schwarz G; ''Synthesis of adenylated molybdopterin: an essential step for molybdenum insertion.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
  3. Schwarz G; ''Molybdenum cofactor biosynthesis and deficiency.''; Cell Mol Life Sci, 2005 PubMed Europe PMC Scholia
  4. Simon Julius Mayr, Juliane Roeper, Guenter Schwarz; ''Alternative splicing of bicistronic MOCS1 defines a novel mitochondrial protein maturation mechanism''; https://doi.org/10.1101/429183, 2018 DOI Scholia

History

View all...
CompareRevisionActionTimeUserComment
128207view02:28, 29 January 2024EweitzSoften disease color, standardize case
119314view13:18, 23 June 2021FinterlyAdded ISBN and DOI Biopax Info
107173view14:26, 17 September 2019MaintBotChEBI identifier normalization
106144view12:04, 16 August 2019MaintBotHMDB identifier normalization
104389view13:35, 23 May 2019JosienlandmanAdded Rhea identifiers
104024view17:38, 25 April 2019IreneHemelModified description
103899view11:07, 15 April 2019JosienlandmanModified Xanthinuria type I and II
102862view14:50, 25 January 2019DeSlModified title
102834view19:18, 24 January 2019EgonwReplaced secondary ChEBI IDs with primary IDs.
102831view16:06, 24 January 2019DeSlAdded identifier for amidoxine reducing component.
102828view15:48, 24 January 2019DeSlModified description
102827view15:47, 24 January 2019DeSlModified title
102825view15:46, 24 January 2019DeSlOntology Term : 'xanthinuria type II pathway' added !
102824view15:45, 24 January 2019DeSlOntology Term : 'xanthinuria type I pathway' added !
102823view15:45, 24 January 2019DeSlOntology Term : 'xanthinuria' added !
102822view15:45, 24 January 2019DeSlOntology Term : 'molybdenum cofactor deficiency type C' added !
102821view15:45, 24 January 2019DeSlOntology Term : 'molybdenum cofactor deficiency type B' added !
102820view15:44, 24 January 2019DeSlOntology Term : 'molybdenum cofactor deficiency pathway' added !
102819view15:44, 24 January 2019DeSlOntology Term : 'molybdenum cofactor deficiency' added !
102818view15:44, 24 January 2019DeSlOntology Term : 'altered molybdenum cofactor biosynthetic pathway' added !
102817view15:44, 24 January 2019DeSlOntology Term : 'molybdenum cofactor biosynthetic pathway' added !
102816view15:43, 24 January 2019DeSlModified description
102815view15:28, 24 January 2019DeSlAnnotated Aldehyde oxidase reactions
102813view15:22, 24 January 2019DeSlAnnotated xanthine oxidase reactions.
102809view15:15, 24 January 2019DeSlAnnotated Sulfite related reactions
102808view15:11, 24 January 2019DeSlAnnotated proteins and metabolites on the left.
102802view14:31, 24 January 2019DeSlAdded lit. ref.
102801view14:30, 24 January 2019DeSlAdded diseases from Chapter Blau
102800view14:17, 24 January 2019DeSlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
Aldehyde oxidaseProteinQ06278 (Uniprot-TrEMBL)
Amidoxime reducing componentProteinQ969Z3 (Uniprot-TrEMBL)
GTPMetaboliteCHEBI:37565 (ChEBI)
Gephyrin (E domain)ProteinQ9NQX3 (Uniprot-TrEMBL)
Gephyrin (G domain)ProteinQ9NQX3 (Uniprot-TrEMBL)
MOCS1ABProtein
MOCS1AProteinENSG00000124615 (Ensembl)
MOCS2AProteinO96007 (Uniprot-TrEMBL)
MOCS2BProteinO96033 (Uniprot-TrEMBL)
MPT-AMPMetaboliteCHEBI:62728 (ChEBI) AKA adenylylated MPT
MPTMetaboliteCHEBI:44074 (ChEBI) AKA metal-binding pterin
MocoMetaboliteCHEBI:21437 (ChEBI)
MocoMetaboliteCHEBI:71306 (ChEBI)
R-HMetabolite
R-NHMetabolite
R-OHMetabolite17478 (ChEBI)
R=N-OHMetabolite
SulfateMetaboliteHMDB01448 (HMDB)
Sulfite oxidaseProteinP51687 (Uniprot-TrEMBL)
SulfiteMetaboliteCHEBI:26823 (ChEBI)
Xanthine oxidaseProteinP47989 (Uniprot-TrEMBL)
XanthineMetaboliteCHEBI:17712 (ChEBI)
cPMPMetaboliteCHEBI:52994 (ChEBI)
uric acidMetaboliteCHEBI:27226 (ChEBI)

Annotated Interactions

No annotated interactions

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