Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases (Homo sapiens)

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Gamma-Glutamyl CycleGlutathionuriaGlutathione Synthetase DeficiencyOxoprolinuriaGamma-Glutamylcysteine Synthetase DeficiencyGlutathioneGlutamate5-OxoprolineADPATPATPGCLCATPGlycineGGCTGSSCysteineADPADPCysteinylglycineGGT15-OxoprolinaseL-Gamma-Glutamyl Amino AcidDipeptidaseGamma-GlutamylcysteineAmino AcidAmino Acid


Description

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Bibliography

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  1. Ristoff E, Mayatepek E, Larsson A; ''Long-term clinical outcome in patients with glutathione synthetase deficiency.''; J Pediatr, 2001 PubMed Europe PMC Scholia
  2. Blau, Nenad, Duran, Marinus, Gibson, K, Michael, Dionisi-Vici, Carlo; ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases'''; ISBN 978-3-64240337-8, 2014 PubMed Europe PMC Scholia
  3. Meister A; ''The gamma-glutamyl cycle. Diseases associated with specific enzymedeficiencies.''; Ann Intern Med, 1974 PubMed Europe PMC Scholia
  4. Henderson MJ, Larsson A, Carlsson B, Dear PR; ''5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder.''; J Inherit Metab Dis, 1993 PubMed Europe PMC Scholia
  5. Beutler E, Gelbart T, Kondo T, Matsunaga AT; ''The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.''; Blood, 1999 PubMed Europe PMC Scholia
  6. Darin N, Leckström K, Sikora P, Lindgren J, Almén G, Asin-Cayuela J; ''γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.''; Eur J Hum Genet, 2018 PubMed Europe PMC Scholia
  7. Hanigan MH, Ricketts WA; ''Extracellular glutathione is a source of cysteine for cells that express gamma-glutamyl transpeptidase.''; Biochemistry, 1993 PubMed Europe PMC Scholia
  8. Wellner VP, Sekura R, Meister A, Larsson A; ''Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).''; Proc Natl Acad Sci U S A, 1974 PubMed Europe PMC Scholia
  9. Oakley AJ, Yamada T, Liu D, Coggan M, Clark AG, Board PG; ''The identification and structural characterization of C7orf24 as gamma-glutamyl cyclotransferase. An essential enzyme in the gamma-glutamyl cycle.''; J Biol Chem, 2008 PubMed Europe PMC Scholia
  10. Beutler E, Moroose R, Kramer L, Gelbart T, Forman L; ''Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia.''; Blood, 1990 PubMed Europe PMC Scholia
  11. Schulman JD, Goodman SI, Mace JW, Patrick AD, Tietze F, Butler EJ; ''Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase.''; Biochem Biophys Res Commun, 1975 PubMed Europe PMC Scholia
  12. Njålsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S; ''Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.''; Hum Genet, 2005 PubMed Europe PMC Scholia
  13. Okada T, Suzuki H, Wada K, Kumagai H, Fukuyama K; ''Crystal structures of gamma-glutamyltranspeptidase from Escherichia coli, a key enzyme in glutathione metabolism, and its reaction intermediate.''; Proc Natl Acad Sci U S A, 2006 PubMed Europe PMC Scholia
  14. Manning NJ, Davies NP, Olpin SE, Carpenter KH, Smith MF, Pollitt RJ, Duncan SL, Larsson A, Carlsson B; ''Prenatal diagnosis of glutathione synthase deficiency.''; Prenat Diagn, 1994 PubMed Europe PMC Scholia
  15. Van der Werf P, Orlowski M, Meister A; ''Enzymatic conversion of 5-oxo-L-proline (L-pyrrolidone carboxylate) to L-glutamate coupled with cleavage of adenosine triphosphate to adenosine diphosphate, a reaction in the -glutamyl cycle.''; Proc Natl Acad Sci U S A, 1971 PubMed Europe PMC Scholia
  16. Hara T, Kato H, Katsube Y, Oda J; ''A pseudo-michaelis quaternary complex in the reverse reaction of a ligase: structure of Escherichia coli B glutathione synthetase complexed with ADP, glutathione, and sulfate at 2.0 A resolution.''; Biochemistry, 1996 PubMed Europe PMC Scholia
  17. Larsson A, Mattsson B, Wauters EA, van Gool JD, Duran M, Wadman SK; ''5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle.''; Acta Paediatr Scand, 1981 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128245view23:45, 29 January 2024EweitzRefine legend, soften disease color, standardize case
124952view08:07, 7 January 2023EgonwFixed the OMIM link patterns
124509view15:19, 3 November 2022DeSlConverted mim-conversion to line for two side metabolites for consitency in interaction modeling
124508view15:03, 3 November 2022DeSlUpdate OMIM URLs for consistency
124507view14:57, 3 November 2022DeSlUpdated two metabvolite IDs from HMDB to ChEBI
124506view14:56, 3 November 2022DeSlChanged Ensembl IDs to UniProt for proteins
122628view10:49, 22 April 2022FehrhartAdapted layout for pathways
122502view08:27, 13 April 2022DeSlOntology Term : 'gamma-glutamyl transpeptidase deficiency' added !
122501view08:27, 13 April 2022DeSlOntology Term : 'glutathionuria disease pathway' added !
122500view08:26, 13 April 2022DeSlAdded legend, Rhea ID from cysteinylglucine to cystein and glycine conversion, added link to Leukotreine PW, added disorder for dipeptidase.
119313view13:16, 23 June 2021FinterlyAdded ISBN for book citation
116371view12:47, 4 May 2021EweitzModified title
108661view12:44, 17 January 2020DeSlReconnected anchor 5-oxoproline->glutamate.
108660view12:42, 17 January 2020DeSlAnother small layout change.
108659view12:40, 17 January 2020DeSlUpdated layout for readability
108082view11:50, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
106802view13:28, 17 September 2019MaintBotHMDB identifier normalization
104483view05:23, 29 May 2019EgonwHarmonized the OMIM href URL pattern.
104244view18:23, 11 May 2019EgonwRemoved the RHEA: prefix from the identifier.
104035view17:48, 25 April 2019IreneHemelModified description
103564view09:56, 15 March 2019LobkeM
103385view14:17, 25 February 2019DeSlRemoved weird signs in lit. ref
103319view10:07, 22 February 2019LobkeMChanged CHEBI ID's of ADP, ATP and AA to primary CHEBI ID's
103213view14:03, 17 February 2019DeSlChanged arrows for diseases to graphical interactions.
103183view15:10, 15 February 2019ElineSandersCysteine verplaatst zodat lijnen recht staan
103179view14:55, 15 February 2019LobkeMOntology Term : 'amino acid metabolic pathway' added !
103177view14:51, 15 February 2019LobkeMModified description
103173view14:46, 15 February 2019LobkeMOntology Term : 'metabolic acidosis' added !
103172view14:45, 15 February 2019LobkeMModified description
103171view14:37, 15 February 2019LobkeMOntology Term : 'hemolytic anemia' added !
103168view14:34, 15 February 2019LobkeMModified description
103165view14:32, 15 February 2019LobkeMOntology Term : 'autosomal recessive disease' added !
103164view14:27, 15 February 2019LobkeMadded references to diseases
103157view13:52, 15 February 2019DeSlAdded litrefs from previous version again ;)
103143view09:21, 15 February 2019LobkeMAdded Rhea identifiers
103138view08:54, 15 February 2019LobkeMModified description
103126view17:54, 13 February 2019DeSlOntology Term : 'glutathione metabolic pathway' added !
103125view17:53, 13 February 2019DeSlOntology Term : 'glutathione biosynthetic pathway' added !
103119view16:50, 13 February 2019LobkeMadd references with Rhea and changed layout
103113view13:41, 13 February 2019LobkeMadded literature and changed CHEBI of Glutathione
103106view13:05, 13 February 2019LobkeMModified description
103102view12:54, 13 February 2019LobkeMModified title
103101view12:50, 13 February 2019LobkeMModified description
103100view12:49, 13 February 2019LobkeMNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
5-OxoprolinaseProteinO14841 (Uniprot-TrEMBL)
5-OxoprolineMetaboliteCHEBI:16010 (ChEBI)
ADPMetaboliteCHEBI:2342 (ChEBI)
ATPMetaboliteCHEBI:2359 (ChEBI)
Amino AcidMetaboliteCHEBI:2642 (ChEBI)
CysteineMetaboliteCHEBI:15356 (ChEBI)
CysteinylglycineMetaboliteHMDB00078 (HMDB)
DipeptidaseProteinA0A140VJI3 (Uniprot-TrEMBL)
GCLCGeneProductENSG00000001084 (Ensembl)
GGCTGeneProductENSG00000006625 (Ensembl)
GGT1GeneProductENSG00000100031 (Ensembl)
GSSGeneProductENSG00000100983 (Ensembl)
Gamma-GlutamylcysteineMetaboliteCHEBI:10570 (ChEBI)
GlutamateMetaboliteCHEBI:14321 (ChEBI)
GlutathioneMetaboliteCHEBI:5437 (ChEBI)
GlycineMetaboliteHMDB00123 (HMDB)
L-Gamma-Glutamyl Amino AcidMetaboliteCHEBI:15857 (ChEBI)

Annotated Interactions

No annotated interactions

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