Riboflavin and CoQ disorders (Homo sapiens)

From WikiPathways

Revision as of 14:43, 8 January 2021 by DeSl (Talk | contribs)
Jump to: navigation, search
6 CytosolBVVLS1CoQ10Pyrimidine metabolismand related disorders1-5, 7, 8RIBSLC52A1FMNRIBFADSLC52A2SLC52A3BVVLS2Fazio-LondeSyndromeRiboflavin DeficiencyDiseaseCatalysisPathwayStimulationProteinMetaboliteConversionConnection to diseaseLegend


Description

Riboflavin (aka Vitamin B2) is used as molecular precursor for the formation of FAD and FMN, which are both essential cofactors in beta-oxidation, branched-chain-amino-acid catabolism and the mitochondrial electron transport of the TCA cycle. Coenzyme Q10 (aka ubiquinone or CoQ10) functions as a electron carrier, antioxidant and influences pyrrimidine metabolism directly.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, Katsura T, Inui K.; ''Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.''; PubMed Europe PMC Scholia
  2. Barile M, Giancaspero TA, Brizio C, Panebianco C, Indiveri C, Galluccio M, Vergani L, Eberini I, Gianazza E; ''Biosynthesis of flavin cofactors in man: implications in health and disease.''; Curr Pharm Des, 2013 PubMed Europe PMC Scholia
  3. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR.; ''Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.''; PubMed Europe PMC Scholia
  4. Forsgren M, Attersand A, Lake S, Grünler J, Swiezewska E, Dallner G, Climent I.; ''Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.''; PubMed Europe PMC Scholia
  5. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M; ''Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.''; Neurology, 2005 PubMed Europe PMC Scholia
  6. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR; ''Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.''; J Inherit Metab Dis, 2011 PubMed Europe PMC Scholia
  7. Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
  8. Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A; ''Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.''; Neurology, 2007 PubMed Europe PMC Scholia
  9. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ.; ''Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.''; PubMed Europe PMC Scholia
  10. Tekle M, Turunen M, Dallner G, Chojnacki T, Swiezewska E.; ''Investigation of coenzyme Q biosynthesis in human fibroblast and HepG2 cells.''; PubMed Europe PMC Scholia
  11. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M; ''A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.''; Am J Hum Genet, 2006 PubMed Europe PMC Scholia
  12. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ; ''Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.''; Am J Hum Genet, 2010 PubMed Europe PMC Scholia
  13. Yonezawa A, Masuda S, Katsura T, Inui K.; ''Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1.''; PubMed Europe PMC Scholia
  14. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A; ''CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.''; Am J Hum Genet, 2008 PubMed Europe PMC Scholia
  15. Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, Matsubara K.; ''Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.''; PubMed Europe PMC Scholia
  16. Stefely JA, Reidenbach AG, Ulbrich A, Oruganty K, Floyd BJ, Jochem A, Saunders JM, Johnson IE, Minogue CE, Wrobel RL, Barber GE, Lee D, Li S, Kannan N, Coon JJ, Bingman CA, Pagliarini DJ; ''Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.''; Mol Cell, 2015 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128507view23:37, 10 February 2024EweitzSoften disease color, refine case
128506view23:32, 10 February 2024EweitzStandardize shape for disease and metabolite nodes
123599view14:29, 4 August 2022DeSlAdded better WP ID for mevalonate PW link.
120417view09:39, 30 November 2021Fehrhartboxed pathway node
119098view09:41, 17 June 2021FinterlyAdded ISBN for book citation
115140view15:56, 28 January 2021EgonwMade four pathways clickable
114379view21:52, 8 January 2021DeSlOntology Term : 'ubiquinone biosynthetic pathway' added !
114378view21:52, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 6' added !
114377view21:51, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 5' added !
114376view21:51, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 4' added !
114375view21:51, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 3' added !
114374view21:51, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 2' added !
114373view21:49, 8 January 2021DeSlAdded another litref for APTX disorder
114372view21:47, 8 January 2021DeSlAdded lit. refs for CoQ2 and APTX related disorders
114371view21:45, 8 January 2021DeSlAdded APTX info and OXPHOS PW link.
114370view21:37, 8 January 2021DeSlAdded lit. ref. for CABC1 disorder
114369view21:35, 8 January 2021DeSlAdded CABC1 info
114368view21:25, 8 January 2021DeSlAdded PDSS1 and 2 info
114367view21:02, 8 January 2021DeSlAdded CoQ10 link to PW
114366view21:00, 8 January 2021DeSlAdded link to PW
114365view20:59, 8 January 2021DeSlConnected ubiquinol to CoQ10
114364view20:56, 8 January 2021DeSlAdded CoQ6 and 9
114363view20:40, 8 January 2021DeSlAdded COQ2 details
114362view20:26, 8 January 2021DeSlAdded details on ETFA and B
114361view19:53, 8 January 2021DeSlAdded more details on ETFDH
114354view15:35, 8 January 2021DeSlRemoved reactome IDs from interactions.
114353view15:33, 8 January 2021DeSlRemoved comment from Reactome on RIB translocation.
114352view15:32, 8 January 2021DeSlOntology Term : 'Brown-Vialetto-Van Laere syndrome 2' added !
114351view15:32, 8 January 2021DeSlOntology Term : 'Brown-Vialetto-Van Laere syndrome 1' added !
114350view15:31, 8 January 2021DeSlOntology Term : 'Brown-Vialetto-Van Laere syndrome' added !
114349view15:31, 8 January 2021DeSlOntology Term : 'coenzyme Q10 deficiency disease' added !
114348view15:31, 8 January 2021DeSlOntology Term : 'primary coenzyme Q10 deficiency 1' added !
114347view15:31, 8 January 2021DeSlOntology Term : 'riboflavin metabolic pathway' added !
114346view15:31, 8 January 2021DeSlOntology Term : 'riboflavin deficiency' added !
114345view15:30, 8 January 2021DeSlOntology Term : 'Fazio-Londe disease' added !
114344view15:30, 8 January 2021DeSlUpdate visualisation of cytosol
114343view15:27, 8 January 2021DeSlAdded reactions from RIB to FMN and FAD
114341view14:55, 8 January 2021DeSlUpdate description with chapter number
114340view14:54, 8 January 2021DeSlAdded legend
114339view14:43, 8 January 2021DeSlAdded link to pyrimidine PW
114337view14:27, 8 January 2021DeSlUpdate description
114336view14:23, 8 January 2021DeSlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
CoQ10MetaboliteCHEBI:46245 (ChEBI)
FADMetaboliteCHEBI:16238 (ChEBI)
FMNMetaboliteCHEBI:17621 (ChEBI)
Pyrimidine metabolism and related disordersPathwayWP4225 (WikiPathways)
RIBMetaboliteCHEBI:17015 (ChEBI)
SLC52A1ProteinQ9NWF4 (Uniprot-TrEMBL)
SLC52A2ProteinQ9HAB3 (Uniprot-TrEMBL)
SLC52A3ProteinSLC52A3 (Uniprot-TrEMBL)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
FADTBarR-HSA-3165230 (Reactome)
FMNTBarR-HSA-3165230 (Reactome)
RIBRIBmim-translocation35017 (Rhea) The water-soluble vitamin riboflavin (RIB, vitamin B2) is essential for normal cellular functions. Three human riboflavin transporters mediate the transport of RIB into cells and play an important role in RIB homeostasis. The transporters are assigned to a new sub-family of the SLC superfamily; SLC52A1, SLC52A2 and SLC52A3 (aka RFVT1, RFVT2 and RFVT3 respectively). Solute carrier family 52, riboflavin transporter, member 1 (SLC52A1, RFVT1) is widely expressed with highest expression in the testis, placenta and small intestine (Yonezawa et al. 2008). Solute carrier family 52, riboflavin transporter, member 2 (SLC52A2, RFVT2) is highly expressed in brain, foetal brain and salivary gland (Yao et al. 2010). Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3, RFVT3) transports riboflavin (RIB) from the lumen into small intestine epithelial cells (Yoshimatsu et al. 2014). Activity is inhibited by riboflavin analogues such as flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) (Yao et al. 2010). Defects in SLC52A3 cause Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1; MIM:211530). BVVLS1 is a rare autosomal recessive neurologic disorder characterised by sensorineural hearing loss and a variety of cranial nerve palsies (Green et al. 2010). Defects in SLC52A3 also cause Fazio-Londe disease (FALOND; MIM:211500), a rare neurological disease characterised by progressive weakness of the muscles innervated by cranial nerves located at the lower brain stem (Bosch et al. 2011).
mim-catalysisR-HSA-3165230 (Reactome)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5037"
Personal tools