Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine (Homo sapiens)

From WikiPathways

Revision as of 14:56, 10 October 2017 by DeSl (Talk | contribs)
(diff) ←Older revision | Current revision (diff) | Newer revision→ (diff)
Jump to: navigation, search
Dopa-responsive dystonia7,8-BH2q-BH2DHPR6-pyruvoyl-tetrahydropterin synthase deficiencyTPHPCDO2pterin-4a-carbinolamine dehydratasen deficiencysepiapterin reductase deficiencyDopamineHO-BH4PheGTP cyclohydrolase deficiencydihydrofolate reductase deficiency5HIAATHDHFRoxo-PH4HVACRSRPAHsepiapterinPhenyl-alaninePrimapterinTrpBH4PTPAADCBiopterinPTPSphenylalanine-4-hydroxylase deficiencyGTPdihydropteridine reductase deficiencyNH2TParomatic l-amino acid decarboxylase deficiencyGTPCHSerotonintyrosine hydroxylase deficiencyL-DOPANeopterintyr5-OH-TrpO2SRSR


Description

Do not modify or delete. This pathway is part of the collection of content used by WikiPathways Academy.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo; ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases'''; , 2014
  2. K Hyland; ''Neurochemistry and defects of biogenic amine neurotransmitter metabolism''; J Inherit Metab Dis ., 1999 PubMed Europe PMC Scholia
  3. Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff; ''Biallelic mutations in DNAJC12 cause hyperphenylal- aninemia, dystonia, and intellectual disability''; Am J Hum Genet., 2017 PubMed Europe PMC Scholia
  4. Kunwar Jung-Kc, Nastassja Himmelreich, Karina S Prestegård, Tie-Jun Sten Shi, Tanja Scherer, Ming Ying, Ana Jorge-Finnigan, Beat Thöny, Nenad Blau, Aurora Martinez; ''henylalanine hydroxylase variants interact with the co-­ chaperone DNAJC12.''; Hum Mutat., 2019 PubMed Europe PMC Scholia
  5. Hyun-U Cho, Sunpil Kim, Jeongeun Sim, Seulkee Yang, Heeyoung An, Min-Ho Nam, Dong-Pyo Jang, C Justin Lee; ''Redefining differential roles of MAO-A in dopamine degradation and MAO-B in tonic GABA synthesis''; Exp Mol Med . , 2021 PubMed Europe PMC Scholia
  6. K Kusmierska, E E W Jansen, C Jakobs, K Szymanska, E Malunowicz, D Meilei, B Thony, N Blau, J Tryfon, D Rokicki, E Pronicka, J Sykut-Cegielska; ''Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up''; J Inherit Metab Dis ., 2009 PubMed Europe PMC Scholia
  7. Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen; ''Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment''; Neuropediatrics . , 2019 PubMed Europe PMC Scholia
  8. Phillip L Pearl, Denise D Wallis, K Michael Gibson; ''Pediatric neurotransmitter diseases''; Curr Neurol Neurosci Rep., 2004 PubMed Europe PMC Scholia
  9. Mark J Crabtree, Keith M Channon; ''Synthesis and recycling of tetrahydrobiopterin in endothelial function and vascular disease''; Nitric Oxide ., 2011 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128201view01:52, 29 January 2024EweitzSoften disease color
126053view13:30, 31 March 2023DeSlChanged placement of RHEA IDs (on MIM-conversion iso mim-catalysis)
126052view13:27, 31 March 2023DeSlFixed nodes previously missed
126051view13:25, 31 March 2023DeSlConverted geneProducts to Proteins
126050view13:24, 31 March 2023DeSlUpdated Wikidata IDs to UniProt for Enzymes
124953view08:12, 7 January 2023EgonwFixed the OMIM link patterns
123763view13:06, 12 August 2022DeSlFix spelling mistake disorder name
123762view12:55, 12 August 2022DeSlOntology Term : 'phenylketonuria pathway' added !
123761view12:54, 12 August 2022DeSlOntology Term : 'phenylketonuria' added !
123760view12:53, 12 August 2022DeSlOntology Term : 'BH4-deficient hyperphenylalaninemia B' added !
123759view12:51, 12 August 2022DeSlOntology Term : 'dopa responsive dystonia pathway' added !
123758view12:46, 12 August 2022DeSlAdded new lit. ref. 21550412
123689view11:32, 10 August 2022DeSlFixed line connecting two disorders, converted to GraphicalLine
123667view14:44, 8 August 2022DeSlUpdate description for Ed. 5
123666view14:42, 8 August 2022DeSlUpdate legend with complex/cofactor drawing
123665view14:40, 8 August 2022DeSlAdded reactions from serotonin to melatonin
123664view14:28, 8 August 2022DeSlfinalizing additonal metabolic steps from dopamine to VMA and MHPG
123663view14:19, 8 August 2022DeSlAdding new reactions for dopamine to norepinephrine
123662view14:16, 8 August 2022DeSlAdded ID for oxo-PH4
123661view14:15, 8 August 2022DeSlAdded enzymes for dopamine and serotonin conversion
123660view14:04, 8 August 2022DeSlAdded 3-OMD, reconnected HVA and 5HIAA
123658view13:38, 8 August 2022DeSlUpdate OMIM ID for AADC
123657view13:36, 8 August 2022DeSlAdded new disorder related to DNAJC12
123656view13:18, 8 August 2022DeSlUpdate OMIM ID for DHFR related disorder
123655view13:06, 8 August 2022DeSlAdded another primary reference for PW
121756view12:02, 3 March 2022DeSlAdded source for book ref.
120404view09:16, 30 November 2021Fehrhartboxed pathway node
119290view11:03, 23 June 2021FinterlyAdded ISBN for book citation
114490view12:55, 17 January 2021DeSlAdded small textual details
114393view16:13, 9 January 2021DeSlAdditional comment for THD (SEGAWA)
114392view16:11, 9 January 2021DeSlOntology Term : 'Segawa syndrome pathway' added !
114391view16:11, 9 January 2021DeSlUpdating OMIM ID for tyrosine hydroxylase deficiency.
114390view16:07, 9 January 2021DeSlOntology Term : 'dystonia 5' added !
114389view16:06, 9 January 2021DeSlOntology Term : 'sepiapterin reductase deficiency' added !
114388view16:06, 9 January 2021DeSlOntology Term : 'megaloblastic anemia' added !
114387view16:04, 9 January 2021DeSlOntology Term : 'PW:0000013' removed !
114386view16:03, 9 January 2021DeSlMore updates for readability of full PW.
114385view15:59, 9 January 2021DeSlVisual updates for readability
114384view15:56, 9 January 2021DeSlAdded legend
111782view13:40, 7 September 2020DeSlUpdated Ec ID for tryptophan hydroxylase
111627view06:16, 31 August 2020EgonwModified description
111626view06:15, 31 August 2020EgonwModified title
108075view11:44, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
106780view13:26, 17 September 2019MaintBotHMDB identifier normalization
104867view11:54, 21 June 2019Josienlandmancorrected two OMIM references
104403view14:54, 23 May 2019IreneHemelAdded Rhea, ChEBI and Uniprot IDs
104397view14:22, 23 May 2019IreneHemelChanged interactions to graphical lines for diseases
104072view13:37, 2 May 2019DdiglesAdded rhea IDs for TPH and PCD reactions, added/modified ChEBI IDs for molecules in these reactions.
104018view17:35, 25 April 2019IreneHemelModified description
98949view12:20, 17 October 2018DeSlModified description

External references

DataNodes

View all...
NameTypeDatabase referenceComment
5-OH-TrpMetabolite
5HIAAMetaboliteHMDB00763 (HMDB) 5-hydroxyindoleacetic acid
6-pyruvoyl-tetrahydropterin synthase deficiencyDISEASE
7,8-BH2MetaboliteQ5276421 (CAS) 7,8-dihydrobiopterin
AADCProteinaromatic l-amino acid decarboxylase
BH4MetaboliteCHEBI:30436 (ChEBI) tetrahydropterin
BiopterinMetaboliteQ41793745 (CAS)
CRProteinQ1145916 (BRENDA) carbonyl reductase
DHFRProteinQ417149 (BRENDA) dihydrofolate reductase
DHPRProteinQ21145902 (BRENDA) dihydropteridine reductase
Dopa-responsive dystoniaDISEASE
DopamineMetaboliteQ170304 (CAS)
GTP cyclohydrolase deficiencyDISEASE
GTPMetaboliteCHEBI:37565 (ChEBI)
GTPCHGeneProductQ1487359 (BRENDA) GTP cyclohydrolase I
HO-BH4Metabolite
HVAMetaboliteQ903566 (CAS) homovanillic acid
L-DOPAMetaboliteQ300989 (CAS)
NH2TPMetabolite
NeopterinMetaboliteQ908292 (Wikidata)
O2MetaboliteCHEBI:15379 (ChEBI)
PAHProteinQ420604 (BRENDA) phenylalanine-4-hydroxylase
PCDProtein4.2.1.96 (Enzyme Nomenclature) pterin-4a-carbinolamine dehydratase
PTPMetaboliteQ245508 (CAS) 6-pyruvoyl tetrahydropterin
PTPSGeneProductQ7121042 (BRENDA) 6-pyruvoyl-tetrahydropterin synthase
PheMetaboliteCHEBI:28044 (ChEBI)
Phenyl-alanineMetaboliteQ170545 (CAS)
PrimapterinMetaboliteQ26261687 (CAS)
SRGeneProductQ15331000 (BRENDA) sepiapterin reductase
SerotoninMetaboliteCHEBI:1420 (ChEBI)
THProteinQ420766 (BRENDA) tyrosine hydroxylase
TPHProteintryptophan hydroxylase (Enzyme Nomenclature) tryptophan hydroxylase
TrpMetaboliteQ181003 (CAS)
aromatic l-amino acid decarboxylase deficiencyDISEASE
dihydrofolate reductase deficiencyDISEASE
dihydropteridine reductase deficiencyDISEASE
oxo-PH4Metabolite
phenylalanine-4-hydroxylase deficiencyDISEASE
pterin-4a-carbinolamine dehydratasen deficiencyDISEASE
q-BH2MetaboliteCHEBI:38797 (ChEBI) Dihydrobiopterin
sepiapterin reductase deficiencyDISEASE
sepiapterinMetaboliteQ2271580 (CAS)
tyrMetaboliteQ188017 (CAS)
tyrosine hydroxylase deficiencyDISEASE

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4156"
Personal tools