Définitions et usages de : BCKDHB - Dictionnaire de anglais sensagent

BCKDHB

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Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)

PDB rendering based on 1dtw.

Available structures

1dtw, 1ols, 1olu, 1olx, 1u5b, 1v11, 1v16, 1v1m, 1v1r, 1wci, 1x7w, 1x7x, 1x7y, 1x7z, 1x80, 2beu, 2bev, 2bew, 2bfb, 2bfc, 2bfd, 2bfe, 2bff, 2j9f

Identifiers

Symbols

BCKDHB; E1B

External IDs

OMIM: 248611 MGI: 88137 HomoloGene: 39 GeneCards: BCKDHB Gene

Gene ontology
Molecular function	• alpha-ketoacid dehydrogenase activity • 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity • protein binding • carboxy-lyase activity
Cellular component	• mitochondrion • mitochondrial alpha-ketoglutarate dehydrogenase complex
Biological process	• branched chain family amino acid catabolic process

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 6:
80.87 - 81.11 Mb

Chr 9:
83.72 - 83.92 Mb

PubMed search

[1]

[2]

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.^[1]

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform.^[1]

References

^ ^a ^b "Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=594.

Popov KM, Zhao Y, Shimomura Y, et al. (1992). [Expression error: Missing operand for > "Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases."]. J. Biol. Chem. 267 (19): 13127–30. PMID 1377677.
Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I (1991). [Expression error: Missing operand for > "Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase."]. J. Biol. Chem. 266 (22): 14686–91. PMID 1860867.
Zneimer SM, Lau KS, Eddy RL, et al. (1991). [Expression error: Missing operand for > "Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31."]. Genomics 10 (3): 740–7. doi:10.1016/0888-7543(91)90458-Q. PMID 1889817.
Nobukuni Y, Mitsubuchi H, Akaboshi I, et al. (1991). [Expression error: Missing operand for > "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease."]. J. Clin. Invest. 87 (5): 1862–6. doi:10.1172/JCI115209. PMID 2022752.
Chuang JL, Cox RP, Chuang DT (1990). [Expression error: Missing operand for > "Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex."]. FEBS Lett. 262 (2): 305–9. doi:10.1016/0014-5793(90)80215-5. PMID 2335211.
Nobukuni Y, Mitsubuchi H, Endo F, et al. (1990). [Expression error: Missing operand for > "Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease."]. J. Clin. Invest. 86 (1): 242–7. doi:10.1172/JCI114690. PMID 2365818.
Wynn RM, Kochi H, Cox RP, Chuang DT (1994). [Expression error: Missing operand for > "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."]. Biochim. Biophys. Acta 1201 (1): 125–8. PMID 7918575.
Nobukuni Y, Mitsubuchi H, Hayashida Y, et al. (1993). [Expression error: Missing operand for > "Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex."]. Biochim. Biophys. Acta 1225 (1): 64–70. PMID 8161368.
Chuang JL, Cox RP, Chuang DT (1996). [Expression error: Missing operand for > "Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences."]. Am. J. Hum. Genet. 58 (6): 1373–7. PMID 8651316.
Edelmann L, Wasserstein MP, Kornreich R, et al. (2001). [Expression error: Missing operand for > "Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population."]. Am. J. Hum. Genet. 69 (4): 863–8. doi:10.1086/323677. PMID 11509994.
Chang CF, Chou HT, Chuang JL, et al. (2002). [Expression error: Missing operand for > "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex."]. J. Biol. Chem. 277 (18): 15865–73. doi:10.1074/jbc.M110952200. PMID 11839747.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). [Expression error: Missing operand for > "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences."]. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Wynn RM, Machius M, Chuang JL, et al. (2003). [Expression error: Missing operand for > "Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site."]. J. Biol. Chem. 278 (44): 43402–10. doi:10.1074/jbc.M306204200. PMID 12902323.
Li J, Wynn RM, Machius M, et al. (2004). [Expression error: Missing operand for > "Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase."]. J. Biol. Chem. 279 (31): 32968–78. doi:10.1074/jbc.M403611200. PMID 15166214.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). [Expression error: Missing operand for > "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."]. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Machius M, Wynn RM, Chuang JL, et al. (2006). [Expression error: Missing operand for > "A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase."]. Structure 14 (2): 287–98. doi:10.1016/j.str.2005.10.009. PMID 16472748.
Li J, Machius M, Chuang JL, et al. (2007). [Expression error: Missing operand for > "The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism."]. J. Biol. Chem. 282 (16): 11904–13. doi:10.1074/jbc.M610843200. PMID 17329260.

PDB Gallery

1dtw: HUMAN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE

1ols: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE

1olu: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE

1olx: ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE

1u5b: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

1v11: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE

1v16: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE

1v1m: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE

1v1r: CROSSTALK BETWEEN COFACTOR BINDING AND THE PHOSPHORYLATION LOOP CONFORMATION IN THE BCKD MACHINE

1wci: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

1x7w: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

1x7x: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

1x7y: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

1x7z: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

1x80: Crystal structure of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase

2beu: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bev: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bew: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bfb: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bfc: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bfd: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bfe: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2bff: REACTIVITY MODULATION OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE BY AN INTERNAL MOLECULAR SWITCH

2j9f: HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE-DECARBOXYLASE E1B

This article on a gene on chromosome 6 is a stub. You can help Wikipedia by expanding it.

Kinases: Serine/threonine-specific protein kinases

Serine/threonine-specific protein kinases (EC 2.7.11.1-EC 2.7.11.20)

Non-specific serine/threonine protein kinases (EC 2.7.11.1)	LATS1, LATS2, MAST1, MAST2, STK38, STK38L, CIT, ROCK1, SGK, SGK2, SGK3, Protein kinase B (AKT1, AKT2, AKT3), Ataxia telangiectasia mutated, Mammalian target of rapamycin, EIF-2 kinases (PKR, HRI), Wee1 (WEE1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)	PDK1, PDK2, PDK3
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)	AMP-activated protein kinase,
(3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)) (EC 2.7.11.4)	BCKDK, BCKDHA, BCKDHB
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)	IDH2, IDH3A, IDH3B, IDH3G
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)	STK4
Myosin-heavy-chain kinase (EC 2.7.11.7)	Aurora kinase (Aurora A kinase, Aurora B kinase)
Fas-activated serine/threonine kinase (EC 2.7.11.8)	FASTK, STK10
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)	-
IκB kinase (EC 2.7.11.10)	CHUK, IKK2, TBK1, IKBKE, IKBKG, IKBKAP
cAMP-dependent protein kinase (EC 2.7.11.11)	Protein kinase A, PRKACG, PRKACB, PRKACA, PRKY
cGMP-dependent protein kinase (EC 2.7.11.12)	Protein kinase G, PRKG1
Protein kinase C (EC 2.7.11.13)	Protein kinase C, Protein kinase Cζ, PKC alpha, PRKCB1, PRKCD, PRKCE, PRKCH, PRKCG, PRKCI, PRKCQ, Protein kinase N1, PKN2, PKN3,
Rhodopsin kinase (EC 2.7.11.14)	Rhodopsin kinase
Beta adrenergic receptor kinase (EC 2.7.11.15)	Beta adrenergic receptor kinase, Beta adrenergic receptor kinase-2
G-protein coupled receptor kinases (EC 2.7.11.16)	GRK4, GRK5, GRK6
Ca2+/calmodulin-dependent (EC 2.7.11.17)	BRSK2, CAMK1, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, MLCK, CASK, CHEK1, CHEK2, DAPK1, DAPK2, DAPK3, STK11, MAPKAPK2, MAPKAPK3, MAPKAPK5, MARK1, MARK2, MARK3, MARK4, MELK, MKNK1, MKNK2, NUAK1, NUAK2, OBSCN, PASK, PHKG1, PHKG2, PIM1, PIM2, PKD1, PRKD2, PRKD3, PSKH1, SNF1LK2, KIAA0999, STK40, SNF1LK, SNRK, SPEG, TSSK2, Kalirin, TRIB1, TRIB2, TRIB3, TRIO, Titin, DCLK1
Myosin light-chain kinase (EC 2.7.11.18)	MYLK, MYLK2, MYLK3, MYLK4
Phosphorylase kinase (EC 2.7.11.19)	PHKA1, PHKA2, PHKB, PHKG1, PHKG2
Elongation factor 2 kinase (EC 2.7.11.20)	EEF2K, STK19

Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)

Polo kinase (EC 2.7.11.21)	PLK1, PLK2, PLK3, PLK4
Cyclin-dependent kinase (EC 2.7.11.22)	CDK1, CDK2, CDKL2, CDK3, CDK4, CDK5, CDKL5, CDK6, CDK7, CDK8, CDK9, CDK10, CDC2L5, CRKRS, PCTK1, PCTK2, PCTK3, PFTK1, CDC2L1
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)	RPS6KA5, RPS6KA4, P70S6 kinase, P70-S6 Kinase 1, RPS6KB2, RPS6KA2, RPS6KA3, RPS6KA1, RPS6KC1
Mitogen-activated protein kinase (EC 2.7.11.24)	Extracellular signal-regulated (MAPK1, MAPK3, MAPK4, MAPK6, MAPK7, MAPK12, MAPK15), C-Jun N-terminal (MAPK8, MAPK9, MAPK10), P38 mitogen-activated protein (MAPK11, MAPK13, MAPK14)
MAP3K (EC 2.7.11.25)	MAP kinase kinase kinases (MAP3K1, MAP3K2, MAP3K3, MAP3K4, MAP3K5, MAP3K6, MAP3K7, MAP3K8) RAFs (ARAF, BRAF, KSR1, KSR2) MLKs (MAP3K12, MAP3K13, MAP3K9, MAP3K10, MAP3K11, MAP3K7, ZAK) CDC7
Tau-protein kinase (EC 2.7.11.26)	TPK1, TTK, GSK-3
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)	-
Tropomyosin kinase (EC 2.7.11.28)	-
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)	-
Receptor protein serine/threonine kinase (EC 2.7.11.30)	Bone morphogenetic protein receptors (BMPR1, BMPR1A, BMPR1B, BMPR2), ACVR1, ACVR1B, ACVR1C, ACVR2A, ACVR2B, ACVRL1, Anti-Müllerian hormone receptor

Dual-specificity kinases (EC 2.7.12)

MAP2K

MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K5, MAP2K6, MAP2K7

v • d • e Aldehyde/oxo oxidoreductases (EC 1.2)
1.2.1: NAD or NADP	Aldehyde dehydrogenase: Acetaldehyde dehydrogenase (ALDH2) · Long-chain-aldehyde dehydrogenase Glyceraldehyde 3-phosphate dehydrogenase
1.2.2: cytochrome	Formate dehydrogenase (cytochrome)
1.2.3: oxygen	Aldehyde oxidase
1.2.4: disulfide	Oxoglutarate dehydrogenase · Pyruvate dehydrogenase · Branched-chain alpha-keto acid dehydrogenase complex (BCKDHA, BCKDHB, DBT, DLD)
1.2.7: iron-sulfur protein	Pyruvate synthase

v • d • e Enzymes: multienzyme complexes
Photosynthesis	Photosynthetic reaction center complex proteins · Photosystem
Dehydrogenase	Pyruvate dehydrogenase complex (E1, E2, E3) · Oxoglutarate dehydrogenase (OGDH, DLST, DLD) · Branched-chain alpha-keto acid dehydrogenase complex (BCKDHA, BCKDHB, DBT, DLD)
Other	CAD (Carbamoyl phosphate synthase II, Aspartate carbamoyltransferase, Dihydroorotase) · Cholesterol side-chain cleavage enzyme · Cytochrome b6f complex · Electron transport chain · Fatty acid synthetase complex · Glycine decarboxylase complex · Mitochondrial trifunctional protein (HADHA, HADHB) · Phosphoenolpyruvate sugar phosphotransferase system · Polyketide synthase · Sucrase-isomaltase complex · Tryptophan synthase

Significations et usages de BCKDHB

Définition

BCKDHB

From Wikipedia, the free encyclopedia

References

Further reading