Branched-chain amino acid catabolism (Homo sapiens)

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41, 15, 2083, 36353776, 13, 3112, 21, 26, 32, 3322, 30, 3917, 1823, 28272, 141, 15, 202, 9, 14, 291923, 2816, 25, 38375, 10, 24, 34117cytosolmitochondrial matrixFADH2HIBCHH+bMC-CoAlipo-BCKDHFAD AUH hexamerLeu, Ile, ValNADHPROP-CoACoA-SHMACR-CoAPPM1K:Mn2+HIBADH tetramerKIV ADPbMC-CoANADHDLD NAD+Mn2+ L-Leu 6x(Btn-MCCC1:MCCC2)NAD+ATPPXLP-BCAT2 BCKDHA ACAD8 tetramerL-GluADP2OGHSD17B10 tetramerDLD BCAT1 dimerKMVA HIBADH ISB-CoA 2M3OPROAALDH6A1BCKDKHCO3-NAD+PXLP-BCAT1 2MACA-CoABtn-MCCC1 2MBUT-CoAPPM1K ACAD8 CoA-SHECHS1 hexameraMbHBUT-CoAH2OBCAA-CoAsBCKDHA H+enoyl-CoA hydrataseACADSB tetramerFAD L-Ile PiFAD p-BCKDHFAD KIC CO2AUH MCCC2 ISV-CoA Ac-CoAIVD FADH2bHMG-CoAp-S292-BCKDHB KIV 2MBUT-CoA FADISB-CoAECHS1 bHIB-CoAHSD17B10 CoA-SHTDP lipo-K44-DBT 2OGH2OL-Val IVD tetramerSLC25A44NAD+bHIBAPiKIC,KMVA,KIVCoA-SHH+FADFAD KMVA KIC L-Leu lipo-K44-DBT BCKDHB Leu, Ile, ValATPL-Val L-Ile TDP tiglyl-CoAISV-CoAKIC, KMVA, KIVACADSB(52-432) H2ONADHACAT1 tetramerBCAT2 dimerCO2NADHH2OL-GluACAT1(35-427) 3316, 251328329272327253021, 26333212, 323212, 323721, 26301915, 2013932


Description

The branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these amino acids starts with two common steps catalyzed by enzymes that act on all three amino acids: reversible transamination by branched-chain amino acid aminotransferase, and irreversible oxidative decarboxylation by the branched-chain ketoacid dehydrogenase complex. Isovaleryl-CoA is produced from leucine by these two reactions, alpha-methylbutyryl-CoA from isoleucine, and isobutyryl-CoA from valine. These acyl-CoA's undergo dehydrogenation, catalyzed by three different but related enzymes, and the breakdown pathways then diverge. Leucine is ultimately converted to acetyl-CoA and acetoacetate; isoleucine to acetyl-CoA and succinyl-CoA; and valine to succinyl-CoA. Under fasting conditions, substantial amounts of all three amino acids are generated by protein breakdown. In muscle, the final products of leucine, isoleucine, and valine catabolism can be fully oxidized via the citric acid cycle; in liver they can be directed toward the synthesis of ketone bodies (acetoacetate and acetyl-CoA) and glucose (succinyl-CoA) (Neinast et al. 2019). View original pathway at Reactome.

Comments

Reactome-Converter 
Pathway is converted from Reactome ID: 70895
Reactome-version 
Reactome version: 75
Reactome Author 
Reactome Author: D'Eustachio, Peter

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Bibliography

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  1. Bledsoe RK, Dawson PA, Hutson SM.; ''Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm).''; PubMed Europe PMC Scholia
  2. Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA.; ''Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.''; PubMed Europe PMC Scholia
  3. Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F.; ''Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.''; PubMed Europe PMC Scholia
  4. Neinast M, Murashige D, Arany Z.; ''Branched Chain Amino Acids.''; PubMed Europe PMC Scholia
  5. Li J, Wynn RM, Machius M, Chuang JL, Karthikeyan S, Tomchick DR, Chuang DT.; ''Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase.''; PubMed Europe PMC Scholia
  6. Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L.; ''Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.''; PubMed Europe PMC Scholia
  7. ROBINSON WG, COON MJ.; ''The purification and properties of beta-hydroxyisobutyric dehydrogenase.''; PubMed Europe PMC Scholia
  8. Yoneshiro T, Wang Q, Tajima K, Matsushita M, Maki H, Igarashi K, Dai Z, White PJ, McGarrah RW, Ilkayeva OR, Deleye Y, Oguri Y, Kuroda M, Ikeda K, Li H, Ueno A, Ohishi M, Ishikawa T, Kim K, Chen Y, Sponton CH, Pradhan RN, Majd H, Greiner VJ, Yoneshiro M, Brown Z, Chondronikola M, Takahashi H, Goto T, Kawada T, Sidossis L, Szoka FC, McManus MT, Saito M, Soga T, Kajimura S.; ''BCAA catabolism in brown fat controls energy homeostasis through SLC25A44.''; PubMed Europe PMC Scholia
  9. Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Röschinger W, Holzinger A.; ''Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.''; PubMed Europe PMC Scholia
  10. García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.; ''Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.''; PubMed Europe PMC Scholia
  11. Wynn RM, Li J, Brautigam CA, Chuang JL, Chuang DT.; ''Structural and biochemical characterization of human mitochondrial branched-chain α-ketoacid dehydrogenase phosphatase.''; PubMed Europe PMC Scholia
  12. Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH.; ''Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.''; PubMed Europe PMC Scholia
  13. Battaile KP, Nguyen TV, Vockley J, Kim JJ.; ''Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases.''; PubMed Europe PMC Scholia
  14. Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D.; ''The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.''; PubMed Europe PMC Scholia
  15. Yennawar NH, Conway ME, Yennawar HP, Farber GK, Hutson SM.; ''Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms.''; PubMed Europe PMC Scholia
  16. Finocchiaro G, Ito M, Tanaka K.; ''Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver.''; PubMed Europe PMC Scholia
  17. Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM.; ''Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.''; PubMed Europe PMC Scholia
  18. Kedishvili NY, Popov KM, Rougraff PM, Zhao Y, Crabb DW, Harris RA.; ''CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.''; PubMed Europe PMC Scholia
  19. Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA.; ''Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.''; PubMed Europe PMC Scholia
  20. Yennawar N, Dunbar J, Conway M, Hutson S, Farber G.; ''The structure of human mitochondrial branched-chain aminotransferase.''; PubMed Europe PMC Scholia
  21. AEvarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG.; ''Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.''; PubMed Europe PMC Scholia
  22. IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ.; ''3-Methylglutaconic aciduria type I is caused by mutations in AUH.''; PubMed Europe PMC Scholia
  23. Kissinger CR, Rejto PA, Pelletier LA, Thomson JA, Showalter RE, Abreo MA, Agree CS, Margosiak S, Meng JJ, Aust RM, Vanderpool D, Li B, Tempczyk-Russell A, Villafranca JE.; ''Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.''; PubMed Europe PMC Scholia
  24. Wynn RM, Kato M, Machius M, Chuang JL, Li J, Tomchick DR, Chuang DT.; ''Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation.''; PubMed Europe PMC Scholia
  25. Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AW, Vockley J, Kim JJ.; ''Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,.''; PubMed Europe PMC Scholia
  26. Reed LJ, Hackert ML.; ''Structure-function relationships in dihydrolipoamide acyltransferases.''; PubMed Europe PMC Scholia
  27. Haapalainen AM, Meriläinen G, Pirilä PL, Kondo N, Fukao T, Wierenga RK.; ''Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.''; PubMed Europe PMC Scholia
  28. Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ.; ''2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.''; PubMed Europe PMC Scholia
  29. Hector ML, Cochran BC, Logue EA, Fall RR.; ''Subcellular localization of 3-methylcrotonyl-coenzyme A carboxylase in bovine kidney.''; PubMed Europe PMC Scholia
  30. Kurimoto K, Fukai S, Nureki O, Muto Y, Yokoyama S.; ''Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase.''; PubMed Europe PMC Scholia
  31. Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J.; ''Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.''; PubMed Europe PMC Scholia
  32. Wynn RM, Kochi H, Cox RP, Chuang DT.; ''Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.''; PubMed Europe PMC Scholia
  33. Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT.; ''Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.''; PubMed Europe PMC Scholia
  34. Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.; ''Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.''; PubMed Europe PMC Scholia
  35. Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y, Fukushi D, Murayama K, Shimomura Y, Pitt J, Yamaguchi S, Yokochi K, Wakamatsu N.; ''Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.''; PubMed Europe PMC Scholia
  36. Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J.; ''2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.''; PubMed Europe PMC Scholia
  37. Goto M, Miyahara I, Hirotsu K, Conway M, Yennawar N, Islam MM, Hutson SM.; ''Structural determinants for branched-chain aminotransferase isozyme-specific inhibition by the anticonvulsant drug gabapentin.''; PubMed Europe PMC Scholia
  38. Rhead WJ, Tanaka K.; ''Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.''; PubMed Europe PMC Scholia
  39. Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK.; ''Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.''; PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
114709view16:18, 25 January 2021ReactomeTeamReactome version 75
113154view11:22, 2 November 2020ReactomeTeamReactome version 74
112382view15:31, 9 October 2020ReactomeTeamReactome version 73
101285view11:17, 1 November 2018ReactomeTeamreactome version 66
100822view20:48, 31 October 2018ReactomeTeamreactome version 65
100363view19:23, 31 October 2018ReactomeTeamreactome version 64
99908view16:06, 31 October 2018ReactomeTeamreactome version 63
99464view14:39, 31 October 2018ReactomeTeamreactome version 62 (2nd attempt)
99120view12:40, 31 October 2018ReactomeTeamreactome version 62
93924view13:45, 16 August 2017ReactomeTeamreactome version 61
93505view11:25, 9 August 2017ReactomeTeamreactome version 61
87096view14:29, 18 July 2016MkutmonOntology Term : 'amino acid metabolic pathway' added !
86600view09:21, 11 July 2016ReactomeTeamreactome version 56
83446view12:25, 18 November 2015ReactomeTeamNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2M3OPROAMetaboliteCHEBI:16256 (ChEBI)
2MACA-CoAMetaboliteCHEBI:15476 (ChEBI)
2MBUT-CoA MetaboliteCHEBI:15477 (ChEBI)
2MBUT-CoAMetaboliteCHEBI:15477 (ChEBI)
2OGMetaboliteCHEBI:16810 (ChEBI)
6x(Btn-MCCC1:MCCC2)ComplexR-HSA-70770 (Reactome)
ACAD8 ProteinQ9UKU7 (Uniprot-TrEMBL)
ACAD8 tetramerComplexR-HSA-70856 (Reactome)
ACADSB tetramerComplexR-HSA-70797 (Reactome)
ACADSB(52-432) ProteinP45954 (Uniprot-TrEMBL)
ACAT1 tetramerComplexR-HSA-70839 (Reactome)
ACAT1(35-427) ProteinP24752 (Uniprot-TrEMBL)
ADPMetaboliteCHEBI:456216 (ChEBI)
ALDH6A1ProteinQ02252 (Uniprot-TrEMBL)
ATPMetaboliteCHEBI:30616 (ChEBI)
AUH ProteinQ13825 (Uniprot-TrEMBL)
AUH hexamerComplexR-HSA-508309 (Reactome)
Ac-CoAMetaboliteCHEBI:15351 (ChEBI)
BCAA-CoAsComplexR-ALL-508261 (Reactome)
BCAT1 dimerComplexR-HSA-70699 (Reactome)
BCAT2 dimerComplexR-HSA-70704 (Reactome)
BCKDHA ProteinP12694 (Uniprot-TrEMBL)
BCKDHB ProteinP21953 (Uniprot-TrEMBL)
BCKDKProteinO14874 (Uniprot-TrEMBL)
Btn-MCCC1 ProteinQ96RQ3 (Uniprot-TrEMBL)
CO2MetaboliteCHEBI:16526 (ChEBI)
CoA-SHMetaboliteCHEBI:15346 (ChEBI)
DLD ProteinP09622 (Uniprot-TrEMBL)
ECHS1 ProteinP30084 (Uniprot-TrEMBL)
ECHS1 hexamerComplexR-HSA-71048 (Reactome)
FAD MetaboliteCHEBI:16238 (ChEBI)
FADMetaboliteCHEBI:16238 (ChEBI)
FADH2MetaboliteCHEBI:17877 (ChEBI)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetaboliteCHEBI:15377 (ChEBI)
HCO3-MetaboliteCHEBI:17544 (ChEBI)
HIBADH ProteinP31937 (Uniprot-TrEMBL)
HIBADH tetramerComplexR-HSA-70883 (Reactome)
HIBCHProteinQ6NVY1 (Uniprot-TrEMBL)
HSD17B10 ProteinQ99714 (Uniprot-TrEMBL)
HSD17B10 tetramerComplexR-HSA-508381 (Reactome)
ISB-CoA MetaboliteCHEBI:15479 (ChEBI)
ISB-CoAMetaboliteCHEBI:15479 (ChEBI)
ISV-CoA MetaboliteCHEBI:15487 (ChEBI)
ISV-CoAMetaboliteCHEBI:15487 (ChEBI)
IVD ProteinP26440 (Uniprot-TrEMBL)
IVD tetramerComplexR-HSA-70730 (Reactome)
KIC MetaboliteCHEBI:17865 (ChEBI)
KIC, KMVA, KIVComplexR-ALL-508181 (Reactome)
KIC,KMVA,KIVComplexR-ALL-508187 (Reactome)
KIV MetaboliteCHEBI:16530 (ChEBI)
KMVA MetaboliteCHEBI:28654 (ChEBI)
L-GluMetaboliteCHEBI:29985 (ChEBI)
L-Ile MetaboliteCHEBI:58045 (ChEBI)
L-Leu MetaboliteCHEBI:57427 (ChEBI)
L-Val MetaboliteCHEBI:57762 (ChEBI)
Leu, Ile, ValComplexR-ALL-508182 (Reactome)
Leu, Ile, ValComplexR-ALL-508190 (Reactome)
MACR-CoAMetaboliteCHEBI:27754 (ChEBI)
MCCC2 ProteinQ9HCC0 (Uniprot-TrEMBL)
Mn2+ MetaboliteCHEBI:29035 (ChEBI)
NAD+MetaboliteCHEBI:57540 (ChEBI)
NADHMetaboliteCHEBI:57945 (ChEBI)
PPM1K ProteinQ8N3J5 (Uniprot-TrEMBL)
PPM1K:Mn2+ComplexR-HSA-5693133 (Reactome)
PROP-CoAMetaboliteCHEBI:15539 (ChEBI)
PXLP-BCAT1 ProteinP54687 (Uniprot-TrEMBL)
PXLP-BCAT2 ProteinO15382 (Uniprot-TrEMBL)
PiMetaboliteCHEBI:43474 (ChEBI)
SLC25A44ProteinQ96H78 (Uniprot-TrEMBL)
TDP MetaboliteCHEBI:58937 (ChEBI)
aMbHBUT-CoAMetaboliteCHEBI:15449 (ChEBI)
bHIB-CoAMetaboliteCHEBI:28259 (ChEBI)
bHIBAMetaboliteCHEBI:11805 (ChEBI)
bHMG-CoAMetaboliteCHEBI:15467 (ChEBI)
bMC-CoAMetaboliteCHEBI:15486 (ChEBI)
bMC-CoAMetaboliteCHEBI:15488 (ChEBI)
enoyl-CoA hydrataseR-HSA-70827 (Reactome)
lipo-BCKDHComplexR-HSA-70019 (Reactome)
lipo-K44-DBT ProteinP11182 (Uniprot-TrEMBL)
p-BCKDHComplexR-HSA-5693120 (Reactome)
p-S292-BCKDHB ProteinP21953 (Uniprot-TrEMBL)
tiglyl-CoAMetaboliteCHEBI:15478 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
2M3OPROAArrowR-HSA-70885 (Reactome)
2M3OPROAR-HSA-508473 (Reactome)
2M3OPROAR-HSA-70893 (Reactome)
2MACA-CoAArrowR-HSA-70837 (Reactome)
2MACA-CoAR-HSA-508369 (Reactome)
2MACA-CoAR-HSA-70844 (Reactome)
2MBUT-CoAR-HSA-70800 (Reactome)
2OGArrowR-HSA-508179 (Reactome)
2OGArrowR-HSA-508189 (Reactome)
2OGR-HSA-70723 (Reactome)
2OGR-HSA-70724 (Reactome)
6x(Btn-MCCC1:MCCC2)mim-catalysisR-HSA-508308 (Reactome)
6x(Btn-MCCC1:MCCC2)mim-catalysisR-HSA-70773 (Reactome)
ACAD8 tetramermim-catalysisR-HSA-70859 (Reactome)
ACADSB tetramermim-catalysisR-HSA-70800 (Reactome)
ACAT1 tetramermim-catalysisR-HSA-70844 (Reactome)
ADPArrowR-HSA-5693148 (Reactome)
ADPArrowR-HSA-70773 (Reactome)
ADPR-HSA-508308 (Reactome)
ALDH6A1mim-catalysisR-HSA-70893 (Reactome)
ATPArrowR-HSA-508308 (Reactome)
ATPR-HSA-5693148 (Reactome)
ATPR-HSA-70773 (Reactome)
AUH hexamermim-catalysisR-HSA-70785 (Reactome)
Ac-CoAArrowR-HSA-70844 (Reactome)
BCAA-CoAsArrowR-HSA-70713 (Reactome)
BCAT1 dimermim-catalysisR-HSA-508189 (Reactome)
BCAT1 dimermim-catalysisR-HSA-70723 (Reactome)
BCAT2 dimermim-catalysisR-HSA-508179 (Reactome)
BCAT2 dimermim-catalysisR-HSA-70724 (Reactome)
BCKDKmim-catalysisR-HSA-5693148 (Reactome)
CO2ArrowR-HSA-70713 (Reactome)
CO2ArrowR-HSA-70893 (Reactome)
CoA-SHArrowR-HSA-70881 (Reactome)
CoA-SHR-HSA-70713 (Reactome)
CoA-SHR-HSA-70844 (Reactome)
CoA-SHR-HSA-70893 (Reactome)
ECHS1 hexamermim-catalysisR-HSA-70870 (Reactome)
FADH2ArrowR-HSA-70745 (Reactome)
FADH2ArrowR-HSA-70800 (Reactome)
FADH2ArrowR-HSA-70859 (Reactome)
FADR-HSA-70745 (Reactome)
FADR-HSA-70800 (Reactome)
FADR-HSA-70859 (Reactome)
H+ArrowR-HSA-70837 (Reactome)
H+ArrowR-HSA-70885 (Reactome)
H+ArrowR-HSA-70893 (Reactome)
H+R-HSA-508369 (Reactome)
H+R-HSA-508473 (Reactome)
H2OR-HSA-508308 (Reactome)
H2OR-HSA-5693153 (Reactome)
H2OR-HSA-70785 (Reactome)
H2OR-HSA-70830 (Reactome)
H2OR-HSA-70870 (Reactome)
H2OR-HSA-70881 (Reactome)
HCO3-ArrowR-HSA-508308 (Reactome)
HCO3-R-HSA-70773 (Reactome)
HIBADH tetramermim-catalysisR-HSA-508473 (Reactome)
HIBADH tetramermim-catalysisR-HSA-70885 (Reactome)
HIBCHmim-catalysisR-HSA-70881 (Reactome)
HSD17B10 tetramermim-catalysisR-HSA-508369 (Reactome)
HSD17B10 tetramermim-catalysisR-HSA-70837 (Reactome)
ISB-CoAR-HSA-70859 (Reactome)
ISV-CoAR-HSA-70745 (Reactome)
IVD tetramermim-catalysisR-HSA-70745 (Reactome)
KIC, KMVA, KIVArrowR-HSA-70724 (Reactome)
KIC, KMVA, KIVR-HSA-508179 (Reactome)
KIC, KMVA, KIVR-HSA-70713 (Reactome)
KIC,KMVA,KIVArrowR-HSA-70723 (Reactome)
KIC,KMVA,KIVR-HSA-508189 (Reactome)
L-GluArrowR-HSA-70723 (Reactome)
L-GluArrowR-HSA-70724 (Reactome)
L-GluR-HSA-508179 (Reactome)
L-GluR-HSA-508189 (Reactome)
Leu, Ile, ValArrowR-HSA-508179 (Reactome)
Leu, Ile, ValArrowR-HSA-508189 (Reactome)
Leu, Ile, ValArrowR-HSA-9672770 (Reactome)
Leu, Ile, ValR-HSA-70723 (Reactome)
Leu, Ile, ValR-HSA-70724 (Reactome)
Leu, Ile, ValR-HSA-9672770 (Reactome)
MACR-CoAArrowR-HSA-70859 (Reactome)
MACR-CoAR-HSA-70870 (Reactome)
NAD+ArrowR-HSA-508369 (Reactome)
NAD+ArrowR-HSA-508473 (Reactome)
NAD+R-HSA-70713 (Reactome)
NAD+R-HSA-70837 (Reactome)
NAD+R-HSA-70885 (Reactome)
NAD+R-HSA-70893 (Reactome)
NADHArrowR-HSA-70713 (Reactome)
NADHArrowR-HSA-70837 (Reactome)
NADHArrowR-HSA-70885 (Reactome)
NADHArrowR-HSA-70893 (Reactome)
NADHR-HSA-508369 (Reactome)
NADHR-HSA-508473 (Reactome)
PPM1K:Mn2+mim-catalysisR-HSA-5693153 (Reactome)
PROP-CoAArrowR-HSA-70844 (Reactome)
PROP-CoAArrowR-HSA-70893 (Reactome)
PiArrowR-HSA-5693153 (Reactome)
PiArrowR-HSA-70773 (Reactome)
PiR-HSA-508308 (Reactome)
R-HSA-508179 (Reactome) Mitochondrial branched-chain-amino-acid aminotransferase (BCAT2) catalyzes the reversible reactions of alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate with glutamate to form leucine, isoleucine, or valine, respectively, and alpha-ketoglutarate (Bledsoe et al. 1997). The active enzyme is a homodimer (Yennawar et al. 2001, 2002). In the body, this enzyme is widely expressed but is especially abundant in muscle tissue.
R-HSA-508189 (Reactome) Cytosolic branched-chain-amino-acid aminotransferase (BCAT1) catalyzes the reversible reactions of alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate with glutamate to form leucine, isoleucine, or valine, respectively, and alpha-ketoglutarate (2-oxoglutarate). The active enzyme is a homodimer (Goto et al. 2005).
R-HSA-508308 (Reactome) Methylcrotonyl CoA carboxylase (MCCA) catalyzes the reversible reaction of beta-methylglutaconyl-CoA, ADP, orthophosphate, and H2O to form beta-methylcrotonyl-CoA, ATP, and CO2. Active MCCA is composed of two polypeptides, MCCA1 and MCCA2 (Baumgartner et al. 2001; Holzinger et al. 2001). The enzyme has been purified from fibroblast mitochondria. By analogy to the more thoroughly studied bovine homologue, MCCA is thought to be a hexamer of six MCCA1:MCCA2 dimers, and the MCCA1 polypeptides are thought to have biotin moieties covalently bound to a lysine residue at position 681 in the polypeptide chain. Mitochondrial import of MCCA1 and 2 is associated with removal of aminoterminal mitochondrial targeting sequences but the exact lengths of these sequences have not been determined.
R-HSA-508369 (Reactome) Mitochondrial 3-hydroxyacyl-CoA dehydrogenase type-2 (HSD17B10; HADH2) catalyzes the reversible reaction of alpha-methylacetoacetyl-CoA and NADH + H+ to form alpha-methyl-beta-hydroxybutyryl-CoA and NAD+ (Ofman et al. 2003). Crystallographic data indicate that the enzyme is a homotetramer (Kissinger et al. 2004).
R-HSA-508473 (Reactome) Mitochondrial 3-hydroxyisobutyrate dehydrogenase (HIBADH) catalyzes the reversible reaction of methylmalonyl semialdehyde and NADH + H+ to form beta-hydroxyisobutyrate and NAD+. The biochemical properties of human HIBADH are inferred from those of its better-studied porcine homologue (Robinson and Coon 1957). Unpublished crystallographic studies (PDB 2GF2) have shown the active enzyme to be a tetramer of HIBADH polypeptides whose aminoterminal 40 residues, a mitochondrial targeting sequence, have been removed.
R-HSA-5693148 (Reactome) Mitochondrial 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) kinase (BCKDK) catalyses the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways (Li et al. 2004, Wynn et al. 2004). BCKDH occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle.
Defects in BCKDK can cause branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD; MIM:614923), a metabolic disorder characterised by autism, epilepsy, intellectual disability, and reduced BCAAs (Novarino et al. 2012, Garcia-Cazorla et al. 2014).
R-HSA-5693153 (Reactome) The branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex occupies a strategic point in the branched-chain amino acid (BCAA) catabolic pathway, and careful regulation of its activity is essential for correct BCAA metabolism. The overall activity of the BCKDH complex is controlled by the phosphorylation (inactivation)/dephosphorylation (activation) cycle. Mitochondrial protein phosphatase 1K (PPM1K) dephosphorylates the E1 beta subunit of BCKDH therby regaining its active state. PPM1K requires Mn2+ as a cofactor for phosphatase activity (Wynn et al. 2012).
R-HSA-70713 (Reactome) The mitochondrial branched-chain alpha-ketoacid dehydrogenase (BKCDH) complex catalyzes the reactions of alpha-ketoisocaproate, alpha-keto beta-methylvalerate, or alpha-ketoisovalerate with CoA and NAD+ to form isovaleryl-CoA, a-methylbutyryl-CoA, or isobutyryl-CoA, respectively, and CO2 and NADH (Chuang and Shih 2001). While bovine and microbial BCKD complexes have been characterized most extensively (Reed and Hackert 1990), structural studies of individual components and subcomplexes of human BKCD have confirmed their structures and roles in the overall oxidative carboxylation process, and have related these features to the disruptive effects of mutations on branched-chain amino acid metabolism in vivo: E1a and E1b components - AEvarsson et al. 2000; E2 - Chang et al. 2002; E3- Brautigam et al. 2005. In addition, structural studies have confirmed the lipoylation of lysine residue 44 in E2 protein (Chang et al. 2002) and the loss of an aminoterminal mitochondrial transport sequence from mature E3 protein (Bruatigam et al. 2005). Loss of mitochondrial transport sequences from proteins E1a, E1b, and E2 has been domstrated by sequence analysis (Wynn et al. 1999).
R-HSA-70723 (Reactome) Cytosolic branched-chain-amino-acid aminotransferase (BCAT1) catalyzes the reversible reactions of leucine, isoleucine, or valine with alpha-ketoglutarate (2-oxoglutarate) to form alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate, respectively, and glutamate. The active enzyme is a homodimer. Goto et al. (2005) have argued that cytosolic BCAT1 plays a major role in the generation of glutamate involved in synaptic transmission in neural tissue.
R-HSA-70724 (Reactome) Mitochondrial branched-chain-amino-acid aminotransferase (BCAT2) catalyzes the reversible reactions of leucine, isoleucine, or valine with alpha-ketoglutarate (2-oxoglutarate) to form alpha-ketoisocaproate, alpha-keto-beta-methylvalerate, or a-ketoisovalerate, respectively, and glutamate (Bledsoe et al. 1997). The active enzyme is a homodimer (Yennawar et al. 2001, 2002). In the body, this enzyme is widely expressed but is especially abundant in muscle tissue.
R-HSA-70745 (Reactome) Mitochondrial isovaleryl dehydrogenase (IVD) catalyzes the reaction of isovaleryl-CoA and FAD to form beta-methylcrotonyl-CoA and FADH2 (Finocchiaro et al. 1978; Rhead and Tanaka 1980). Crystallographic studies demonstrated the existene of a tetramer of IVD polypeptides lacking an aminoterminal mitochondrial targeting sequence (Tiffany et al. 1997).
R-HSA-70773 (Reactome) Methylcrotonyl CoA carboxylase (MCCA) catalyzes the reversible reaction of beta-methylcrotonyl-CoA, ATP, and CO2 to form beta-methylglutaconyl-CoA, ADP, orthophosphate, and H2O. Active MCCA is composed of two polypeptides, MCCA1 and MCCA2 (Baumgartner et al. 2001; Holzinger et al. 2001). The enzyme has been purified from fibroblast mitochondria. By analogy to the more thoroughly studied bovine homologue, MCCA is thought to be a hexamer of six MCCA1:MCCA2 dimers, and the MCCA1 polypeptide is thought to have a biotin moiety covalently bound to lysine residue 681. Localization of the complex to the mitochondrial inner membrane is inferred from studies of the bovine homologue (Hector et al. 1980). Mitochondrial import of MCCA1 and 2 is associated with removal of aminoterminal mitochondrial targeting sequences (Stadler et al. 2005).
R-HSA-70785 (Reactome) Mitochondrial ethylglutaconyl-CoA hydratase (AUH) catalyzes the hydrolysis of beta-methylglutaconyl-CoA to yield beta-hydroxy-beta-methylglutaryl-CoA (IJlst et al. 2002; Narisawa et al. 1986). Crystallographic studies have shown the active enzyme to be a hexamer of AUH polypeptides whose aminoterminal 67 residues, a mitochondrial targeting sequence, have been removed ((Kurimoto et al. 2001).
R-HSA-70800 (Reactome) Mitochondrial 2-methyl branched chain acyl-CoA dehydrogenase (ACADSB) catalyzes the reaction of alpha-methylbutyryl-CoA and FAD to form 'tiglyl-CoA and FADH2 (Andresen et al. 2000; Gibson et al. 2000). Unpublished crystallographic data (PDB 2JIF) indicate that the enzyme is a tetramer of ACADSB polypeptides whose aminoterminal 51 residues, a mitochondrial targeting sequence, have been removed.
R-HSA-70830 (Reactome) Mitochondrial tiglyl-CoA is hydrolyzed to form alpha-methyl-beta-hydroxybutyryl-CoA. While crude extracts of human liver cells have been shown to catalyze the reaction, the specific enzyme responsible for it has not been identified (Sweetman and Williams 2001).
R-HSA-70837 (Reactome) Mitochondrial 3-hydroxyacyl-CoA dehydrogenase type-2 (HSD17B10; HADH2) catalyzes the reversible reaction of alpha-methyl-beta-hydroxybutyryl-CoA and NAD+ to form alpha-methylacetoacetyl-CoA and NADH + H+ (Ofman et al. 2003). Crystallographic data indicate that the enzyme is a homotetramer (Kissinger et al. 2004).
R-HSA-70844 (Reactome) Mitochondrial acetyl-CoA acetyltransferase (ACAT1) catalyzes the reaction of alpha-methyl-acetoacetyl-CoA and CoA to form propionyl-CoA and acetyl-CoA. Structural studies have shown the active enzyme to be a tetramer of ACAT1 polypeptides whose aminoterminal 34 residues, a mitochondrial targeting sequence, have been removed (Haapalainen et al. 2007).
R-HSA-70859 (Reactome) Mitochondrial isobutyryl-CoA dehydrogenase (ACAD8) catalyzes the reaction of isobutyryl-CoA and FAD to form methacrylyl-CoA and FADH2 (Roe et al. 1999; Nguyen et al. 2002). Crystallographic studies have shown the active enzyme to be a tetramer of ACAD8 polypeptides whose aminoterminal 23 residues, a mitochondrial targeting sequence, have been removed (Bataille et al. 2004).
R-HSA-70870 (Reactome) Mitochondrial ECHS1 (enoyl-CoA hydratase) hexamer catalyzes the reversible addition of water to MACR-CoA (methacrylyl-CoA) to form bHIB-CoA (beta-hydroxybutyryl-CoA). Partially purified ECHS1 catalyzes this reaction with moderate efficiency in vitro, and patients deficient in the enzyme accumulate and excrete MACR-CoA (Yamada et al. 2015).
R-HSA-70881 (Reactome) Mitochondrial 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) catalyzes the hydrolysis of beta-hydroxyisobutyryl-CoA to form beta-hydroxyisobutyrate (3-hydroxy-2-methylpropanoate) and CoA (Hawes et al. 1996).
R-HSA-70885 (Reactome) Mitochondrial 3-hydroxyisobutyrate dehydrogenase (HIBADH) catalyzes the reversible reaction of beta-hydroxyisobutyrate and NAD+ to form methylmalonyl semialdehyde and NADH + H+. The biochemical properties of human HIBADH are inferred from those of its better-studied porcine homologue (Robinson and Coon 1957). Unpublished crystallographic studies (PDB 2GF2) have shown the active enzyme to be a tetramer of HIBADH polypeptides whose aminoterminal 40 residues, a mitochondrial targeting sequence, have been removed.
R-HSA-70893 (Reactome) Mitochondrial methylmalonate semialdehyde dehydrogenase (ALDH6A1) catalyzes the reaction of methylmalonate semialdehyde, NAD+, and CoA to form propionyl-CoA, CO2, and NADH + H+. A human ALDH6A1 gene has been cloned. Its sequence is closely homologous to that of the better-characterized rat enzyme (Kedishvili et al. 1992) and a missense mutation in a normally well-conserved codon has been found in the allele of the gene from a patient with a defect in methylmalonic semialdehyde dehydrogenase activity (Chambliss et al. 2000).
R-HSA-9672770 (Reactome) Mitochondrial uptake of the three branched-chain amino acids leucine (Leu), isoleucine (Ile), and valine (Val) is mediated by solute carrier family 25 member 44 (SLC25A44), localized in the inner mitochondrial membrane. This human reaction is inferred from studies of the homologous mouse protein, Slc25a44 (Yoneshiro et al. 2019).
SLC25A44mim-catalysisR-HSA-9672770 (Reactome)
aMbHBUT-CoAArrowR-HSA-508369 (Reactome)
aMbHBUT-CoAArrowR-HSA-70830 (Reactome)
aMbHBUT-CoAR-HSA-70837 (Reactome)
bHIB-CoAArrowR-HSA-70870 (Reactome)
bHIB-CoAR-HSA-70881 (Reactome)
bHIBAArrowR-HSA-508473 (Reactome)
bHIBAArrowR-HSA-70881 (Reactome)
bHIBAR-HSA-70885 (Reactome)
bHMG-CoAArrowR-HSA-70785 (Reactome)
bMC-CoAArrowR-HSA-508308 (Reactome)
bMC-CoAArrowR-HSA-70745 (Reactome)
bMC-CoAArrowR-HSA-70773 (Reactome)
bMC-CoAR-HSA-508308 (Reactome)
bMC-CoAR-HSA-70773 (Reactome)
bMC-CoAR-HSA-70785 (Reactome)
enoyl-CoA hydratasemim-catalysisR-HSA-70830 (Reactome)
lipo-BCKDHArrowR-HSA-5693153 (Reactome)
lipo-BCKDHR-HSA-5693148 (Reactome)
lipo-BCKDHmim-catalysisR-HSA-70713 (Reactome)
p-BCKDHArrowR-HSA-5693148 (Reactome)
p-BCKDHR-HSA-5693153 (Reactome)
tiglyl-CoAArrowR-HSA-70800 (Reactome)
tiglyl-CoAR-HSA-70830 (Reactome)
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