Biotin Metabolism (including IEMs) (Homo sapiens)

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mitochondria1, 3ACCs:pyruvateoxaloacetatepropanoyl-CoAleucinePCApo-ACC3-methylglutaconyl-CoAFatty Acid SynthesisMCCC13-methylcrotonyl-COA22Biotinidase deficiency (BTD)Holocarboxylases(ACC, MCC, PCC, PC)Dietary and otherprotein-bound biotinProteolysisBiocytinLysineBiotinidase (BTD)2free biotinAcetyl-CoABiotin (free pool)Apocarboxylases(ACC, MCC, PCC, PC)HLCSHolocar-boxylase synthetase deficiency(HCSD)Malonyl-CoAACC1(cytosol)ACC2(mitochondrial)LeucineCatabolismPropanoatemetabolismGluconeogenesis,Anaplerosisholo-ACCApo-PCCholo-PCCApo-MCCholo-MCCApo-PCholo-PCMCCs:MCCC2Biotin PCCAPCCBmethylmanoyl-CoAPCCs:PC:3-methylcrotonyl-CoA carboxylase 1deficiency3-methylcrotonyl-CoA carboxylase 2deficiencyPyruvatecarboxylasedeficiencypropionic-acedemia


Description

An important cofactor for carboxylation reaction is the vitamin Biotin. Four carboxylase groups (ACC, MCC, PCC and PC) are activated by binding to biotin and forming holocarboxylases, which in turn are responsible for several metabolic conversion in the Fatty Acid Synthesis, Leucine catabolism, propanoate metabolism and gluconeogenesis. Except for the ACC conversion from acetyl-CoA to malonyl-CoA starting the fatty acid synthesis, all other three interactions are connected to disorders. Furthermore, one can distinguish two "multiple carboxylase defects" (MCDs), which are connected to the conversion of biocytin into biotin (BTD), or unbound biotin to one of the apocarboxylases (HCSD).


This pathway was inspired by Chapter 14 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).

Quality Tags

Ontology Terms

 

Bibliography

  1. 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 (ISBN-13: 978-3642403361), 2014
  2. Hymes J, Wolf B; ''Biotinidase and its roles in biotin metabolism.''; Clin Chim Acta, 1996 PubMed Europe PMC Scholia
  3. Said HM; ''Biotin: biochemical, physiological and clinical aspects.''; Subcell Biochem, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
114213view11:32, 25 December 2020DeSlUpdate description.
114212view11:32, 25 December 2020DeSlUpdated description.
114211view11:22, 25 December 2020DeSlAdded another lit. ref
114210view11:16, 25 December 2020DeSlAdded lit. ref for biotinidase
114209view11:14, 25 December 2020DeSlAdded last diseases.
114208view11:13, 25 December 2020DeSlAdded more diseases
114207view11:07, 25 December 2020DeSlLayout changes
114206view11:06, 25 December 2020DeSlCompeted last step
114205view11:00, 25 December 2020DeSlAnnotated PW nodes
114204view10:53, 25 December 2020DeSlAdded interactions for propionate
114203view10:27, 25 December 2020DeSlAdded general lit. ref.
114202view10:26, 25 December 2020DeSlConnected unconnected line
114201view10:25, 25 December 2020DeSlOntology Term : '3-methylcrotonyl CoA carboxylase 2 deficiency pathway' added !
114200view10:25, 25 December 2020DeSlOntology Term : '3-methylcrotonyl CoA carboxylase 1 deficiency pathway' added !
114199view10:24, 25 December 2020DeSlOntology Term : 'pyruvate carboxylase deficiency pathway' added !
114198view10:24, 25 December 2020DeSlOntology Term : 'pyruvate carboxylase deficiency disease' added !
114197view10:22, 25 December 2020DeSlOntology Term : '3-Methylcrotonyl-CoA carboxylase deficiency' added !
114196view10:22, 25 December 2020DeSlOntology Term : '3-Methylcrotonyl-CoA carboxylase 2 deficiency' added !
114195view10:21, 25 December 2020DeSlOntology Term : '3-Methylcrotonyl-CoA carboxylase 1 deficiency' added !
114194view10:21, 25 December 2020DeSlOntology Term : 'holocarboxylase synthetase deficiency pathway' added !
114193view10:21, 25 December 2020DeSlOntology Term : 'holocarboxylase synthetase deficiency' added !
114192view10:21, 25 December 2020DeSlOntology Term : 'biotin metabolic pathway' added !
114191view10:20, 25 December 2020DeSlOntology Term : 'biotinidase deficiency pathway' added !
114190view10:20, 25 December 2020DeSlOntology Term : 'biotinidase deficiency' added !
114189view10:20, 25 December 2020DeSlUpdated description
114188view16:25, 24 December 2020DeSlsmall updates
114187view16:13, 24 December 2020DeSlAdded interactions related to leucine metabolism
114186view15:45, 24 December 2020DeSlfinished proteolysis interactions
114185view15:20, 24 December 2020DeSlAdded first interactions on apo to holo caroxylases
114184view14:41, 24 December 2020DeSlfixed typo in title
114183view14:39, 24 December 2020DeSlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
3-methylcrotonyl-COAMetaboliteCHEBI:57344 (ChEBI) aka 3-methylbut-2-enoyl-CoA
3-methylglutaconyl-CoAMetaboliteCHEBI:57346 (ChEBI) aka trans-3-methylglutaconyl-CoA
ACC1 (cytosol)ProteinQ13085 (Uniprot-TrEMBL) aka acetyl-CoA carboxylase
ACC2 (mitochondrial)ProteinO00763 (Uniprot-TrEMBL) aka acetyl-CoA carboxylase
Acetyl-CoAMetaboliteCHEBI:57288 (ChEBI)
Apo-ACCMetaboliteCHEBI:29969 (ChEBI) aka apo-[methylmalonyl-CoA:pyruvate carboxytransferase]
Apo-MCCMetaboliteCHEBI:29969 (ChEBI) aka apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]
Apo-PCCMetaboliteCHEBI:29969 (ChEBI) aka apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
Apo-PCMetaboliteCHEBI:29969 (ChEBI) aka pyruvate carboxylase
BiocytinMetaboliteQ864247 (Wikidata) biotin covalantly bound to lysine
Biotin (free pool)MetaboliteCHEBI:15956 (ChEBI)
Biotin MetaboliteCHEBI:15956 (ChEBI)
Biotinidase (BTD)ProteinP43251 (Uniprot-TrEMBL)
Dietary and other protein-bound biotinMetaboliteCHEBI:16615 (ChEBI)
Fatty Acid SynthesisPathwayWP3965 (WikiPathways)
Gluconeogenesis, AnaplerosisPathwayWP534 (WikiPathways)
HLCSProteinP50747 (Uniprot-TrEMBL) aka Holocarboxylase Synthetase
Leucine CatabolismPathwayWP4686 (WikiPathways)
LysineMetaboliteCHEBI:25094 (ChEBI)
MCCC1ProteinQ96RQ3 (Uniprot-TrEMBL)
MCCC2ProteinQ9HCC0 (Uniprot-TrEMBL)
Malonyl-CoAMetaboliteCHEBI:57384 (ChEBI)
PCCAProteinP05165 (Uniprot-TrEMBL)
PCCBProteinP05166 (Uniprot-TrEMBL)
PCProteinP11498 (Uniprot-TrEMBL) aka pyruvate carboxylase
Propanoate metabolismPathwayWP4034 (WikiPathways) aka Propionate metabolism
ProteolysisProtein
free biotinMetaboliteCHEBI:15956 (ChEBI)
holo-ACCMetaboliteCHEBI:83144 (ChEBI) aka holo-[methylmalonyl-CoA:pyruvate carboxytransferase]
holo-MCCMetaboliteCHEBI:83144 (ChEBI) aka holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]
holo-PCCMetaboliteCHEBI:83144 (ChEBI) aka holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
holo-PCMetaboliteCHEBI:83144 (ChEBI) aka pyruvate carboxylase
leucineMetaboliteCHEBI:25017 (ChEBI)
methylmanoyl-CoAMetaboliteCHEBI:57327 (ChEBI)
oxaloacetateMetaboliteCHEBI:16452 (ChEBI)
propanoyl-CoAMetaboliteCHEBI:57392 (ChEBI) aka propionyl-CoA
pyruvateMetaboliteCHEBI:15361 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
3-methylcrotonyl-COA3-methylglutaconyl-CoAmim-conversion13590 (Rhea)
Acetyl-CoAMalonyl-CoAmim-conversion11309 (Rhea)
Apo-ACCmim-conversion23669 (Rhea)
Apo-MCCmim-conversion24377 (Rhea)
Apo-PCCmim-conversion11205 (Rhea)
Apo-PCmim-conversion11757 (Rhea)
BiocytinBiotin (free pool)mim-conversion13082 (Rhea)
Biotin (free pool)mim-conversion11205 (Rhea)
Biotin (free pool)mim-conversion11757 (Rhea)
Biotin (free pool)mim-conversion23669 (Rhea)
Biotin (free pool)mim-conversion24377 (Rhea)
Lysinemim-conversion13082 (Rhea)
propanoyl-CoAmethylmanoyl-CoAmim-conversion23721 (Rhea)
pyruvateoxaloacetatemim-conversion20845 (Rhea)
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