2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor

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Reviewed, UniProtKB/Swiss-Prot P21953 (ODBB_HUMAN)

Last modified July 7, 2009. Version 105. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    EC=1.2.4.4
Alternative name(s):
    Branched-chain alpha-keto acid dehydrogenase E1 component beta chain
      Short name=BCKDH E1-beta

Gene names

Name:

BCKDHB

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	392 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO₂. It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
Catalytic activity	3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO₂.
Subunit structure	Heterodimer of an alpha and a beta chain.
Subcellular location	Mitochondrion matrix.
Involvement in disease	Defects in BCKDHB are the cause of maple syrup urine disease type IB (MSUD1B) [MIM:248600]. MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Ref.7 Ref.8

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Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Disease mutation Maple syrup urine disease
Domain	Transit peptide
Molecular function	Oxidoreductase
Technical term	3D-structure Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	branched chain family amino acid catabolic process Inferred from mutant phenotype. Source: HGNC oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial alpha-ketoglutarate dehydrogenase complex Inferred from mutant phenotype. Source: HGNC
Molecular function	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity Ref.1 Traceable author statement. Source: ProtInc carboxy-lyase activity Traceable author statement. Source: HGNC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct	Notes
BCKDHA	P12694	4	EBI-1029067,EBI-1029053

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 50

Mitochondrion

Chain

51 – 392

342

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

PRO_0000020470

Natural variations

Natural variant

T → I: dbSNP rs35470366.

VAR_050437

Natural variant

183

R → P in MSUD1B. dbSNP rs28934895. Ref.8

VAR_024851

Natural variant

206

H → R in MSUD1B. Ref.7

VAR_004974

Natural variant

278

G → S in MSUD1B. Ref.8

VAR_024852

Experimental info

Sequence conflict

20 – 23

EGHW → RLPP Ref.4

Sequence conflict

322

T → S in CAA36685. Ref.4

Secondary structure

392

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P21953-1 [UniParc].

Last modified August 1, 1992. Version 2.
Checksum: D78097834D063BB7
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FASTA

392

43,122

        10         20         30         40         50         60 
MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP 

        70         80         90        100        110        120 
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF 

       130        140        150        160        170        180 
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL 

       190        200        210        220        230        240 
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP 

       250        260        270        280        290        300 
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE 

       310        320        330        340        350        360 
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV 

       370        380        390 
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Matsuda I., Asaka J., Akaboshi I., Endo F., Mitsubuchi H., Nobukuni Y. J. Clin. Invest. 86:242-247(1990) [PubMed: 2365818] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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." Chuang J.L., Cox R.P., Chuang D.T. Am. J. Hum. Genet. 58:1373-1377(1996) [PubMed: 8651316] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Placenta.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[4]	"Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex." Chuang J.L., Cox R.P., Chuang D.T. FEBS Lett. 262:305-309(1990) [PubMed: 2335211] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-392.
[5]	"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." Wynn R.M., Kochi H., Cox R.P., Chuang D.T. Biochim. Biophys. Acta 1201:125-128(1994) [PubMed: 7918575] [Abstract] Cited for: PROTEIN SEQUENCE OF 36-62.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[7]	"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." Nobukuni Y., Mitsubuchi H., Hayashida Y., Ohta K., Indo Y., Ichiba Y., Endo F., Matsuda I. Biochim. Biophys. Acta 1225:64-70(1993) [PubMed: 8161368] [Abstract] Cited for: VARIANT MSUD1B ARG-206.
[8]	"Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population." Edelmann L., Wasserstein M.P., Kornreich R., Sansaricq C., Snyderman S.E., Diaz G.A. Am. J. Hum. Genet. 69:863-868(2001) [PubMed: 11509994] [Abstract] Cited for: VARIANTS MSUD1B PRO-183 AND SER-278.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

M55575 mRNA. Translation: AAA51812.1.
D90391 Genomic DNA. Translation: BAA14389.1.
BC040139 mRNA. Translation: AAH40139.1.
U50708 mRNA. Translation: AAB16763.1.
X52446 mRNA. Translation: CAA36685.1.

IPI

IPI00011276.

PIR

A37157.

RefSeq

NP_000047.1.
NP_898871.1.

UniGene

Hs.654441

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1DTW	X-ray	2.70	B	51-392	[»]
1OLS	X-ray	1.85	B	51-392	[»]
1OLU	X-ray	1.90	B	51-392	[»]
1OLX	X-ray	2.25	B	51-392	[»]
1U5B	X-ray	1.83	B	51-392	[»]
1V11	X-ray	1.95	B	51-392	[»]
1V16	X-ray	1.90	B	51-392	[»]
1V1M	X-ray	2.00	B	51-392	[»]
1V1R	X-ray	1.80	B	51-392	[»]
1WCI	X-ray	1.84	B	51-392	[»]
1X7W	X-ray	1.73	B	51-392	[»]
1X7X	X-ray	2.10	B	51-392	[»]
1X7Y	X-ray	1.57	B	51-392	[»]
1X7Z	X-ray	1.72	B	51-392	[»]
1X80	X-ray	2.00	B	51-392	[»]
2BEU	X-ray	1.89	B	51-392	[»]
2BEV	X-ray	1.80	B	51-392	[»]
2BEW	X-ray	1.79	B	51-392	[»]
2BFB	X-ray	1.77	B	51-392	[»]
2BFC	X-ray	1.64	B	51-392	[»]
2BFD	X-ray	1.39	B	51-392	[»]
2BFE	X-ray	1.69	B	51-392	[»]
2BFF	X-ray	1.46	B	51-392	[»]
2J9F	X-ray	1.88	B/D	51-392	[»]

ModBase

Search...

Protein-protein interaction databases

DIP

DIP:6147N.

IntAct

P21953. 1 interaction.

PTM databases

PhosphoSite

P21953.

2-D gel databases

REPRODUCTION-2DPAGE

IPI00011276.

Proteomic databases

PeptideAtlas

P21953.

PRIDE

P21953.

Genome annotation databases

Ensembl

ENSG00000083123. Homo sapiens. [Contig view]

GeneID

594.

KEGG

hsa:594.

UCSC

uc003pjd.2. human.

Organism-specific databases

GeneCards

GC06P080873.

H-InvDB

HIX0025076.

HGNC

HGNC:987. BCKDHB.

MIM

248600. phenotype.
248611. gene.

Orphanet

511. Leucinosis.

PharmGKB

PA25298.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P21953.

HOVERGEN

P21953.

OMA

P21953. HEATLTS.

Enzyme and pathway databases

BioCyc

MetaCyc:MON-12006.

BRENDA

1.2.4.4. 247.

Reactome

REACT_13. Metabolism of amino acids.

Gene expression databases

ArrayExpress

P21953.

Bgee

P21953.

CleanEx

HS_BCKDHB.

GermOnline

ENSG00000083123. Homo sapiens.

Family and domain databases

InterPro

IPR005476. Transketo_C.
IPR015941. Transketolase_C-like.
IPR005475. Transketolase_central-reg.
[Graphical view]

Gene3D

G3DSA:3.40.50.920. Transketo_C_like. 1 hit.

Pfam

PF02779. Transket_pyr. 1 hit.
PF02780. Transketolase_C. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

2413.

SOURCE

Search...

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Entry information

Entry name

ODBB_HUMAN

Accession

Primary (citable) accession number: P21953

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1991
Last sequence update:	August 1, 1992
Last modified:	July 7, 2009
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Natural variations

Experimental info

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

2-D gel databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents