Molybdenum cofactor (Moco) biosynthesis (Homo sapiens)

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2, 3Xanthinuria Type IGephyrin(G domain)XanthineMocoMPTGTPSulfiteMOCS1AR=N-OHSulfite oxidasecPMPMPT-AMP4Amidoxime reducingcomponentXanthine oxidaseAldehyde oxidase44SulfateR-NHuric acidR-HR-OHSulfite oxidaseMocoAmidoxime reducingcomponentMocoXanthine oxidaseMocoAldehyde oxidaseMocoMOCS1AB1MOCS2AMOCS2BGephyrin(E domain)Sulphite oxidase deficiencyMoCD type AMoCD type BMoCD type CXanthinuria 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 978-3-642-40337-8).

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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:60198 (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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