[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial precursor

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O55028 (BCKD_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 115. History...

Clusters with 100%, 90%, 50% identity |

Documents (3) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
EC=2.7.11.4

Alternative name(s):
Branched-chain alpha-ketoacid dehydrogenase kinase
Short name=BCKD-kinase
Short name=BCKDHKIN

Gene names

Name:

Bckdk

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	412 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex By similarity.
Catalytic activity	ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate.
Subunit structure	Monomer By similarity.
Subcellular location	Mitochondrion matrix.
Tissue specificity	Ubiquitous.
Induction	Expression in female liver is influenced by circadian rhythm.
Post-translational modification	Autophosphorylated By similarity.
Disruption phenotype	Mutant animals are born at the expected Mendelian ratio, but they exhibit a decreased fertility. They are healthy at birth. At 3 weeks of age, they start showing growth retardation. At 12 weeks, they are 15% smaller than their wild-type littermates. Adults develop neurological abnormalities, such as tremors, epileptic seizures and hindlimb clasping. These neurological deficits can be completely abolished when mice are fed with a diet enriched in branched amino acids. Ref.3 Ref.6
Sequence similarities	Belongs to the PDK/BCKDK protein kinase family. Contains 1 histidine kinase domain.

Ontologies

Keywords
Cellular component	Mitochondrion
Domain	Transit peptide
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	branched-chain amino acid catabolic process Inferred from sequence or structural similarity. Source: HGNC
Cellular_component	mitochondrial alpha-ketoglutarate dehydrogenase complex Inferred from sequence or structural similarity. Source: HGNC
Molecular_function	ATP binding Inferred from sequence or structural similarity. Source: HGNC [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity Inferred from electronic annotation. Source: EC protein serine/threonine kinase activity Inferred from sequence or structural similarity. Source: HGNC
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 30

Mitochondrion By similarity

Chain

31 – 412

382

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

PRO_0000023453

Regions

Domain

159 – 404

246

Histidine kinase

Amino acid modifications

Modified residue

Phosphoserine Ref.4

Modified residue

Phosphothreonine Ref.5

Modified residue

Phosphoserine; by autocatalysis By similarity

Modified residue

192

N6-acetyllysine By similarity

Modified residue

233

N6-acetyllysine By similarity

Sequences

Sequence

Length

Mass (Da)

Tools

O55028 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 80B3B173AAC8AAD3
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FASTA

412

46,588

        10         20         30         40         50         60 
MILTSVLGSG PRSWSSLWPL LGSSLSLRAR STSATDTHHV ELARERSKTV TSFYNQSAID 

        70         80         90        100        110        120 
VAAEKPSVRL TPTMMLYSGR SQDGSHLLKS GRYLQQELPV RIAHRIKGFR SLPFIIGCNP 

       130        140        150        160        170        180 
TILHVHELYI RAFQKLTDFP PIKDQADEAQ YCQLVRQLLD DHKDVVTLLA EGLRESRKHI 

       190        200        210        220        230        240 
QDEKLVRYFL DKTLTSRLGI RMLATHHLAL HEDKPDFVGI ICTRLSPKKI IEKWVDFARR 

       250        260        270        280        290        300 
LCEHKYGNAP RVRINGHVAA RFPFIPMPLD YILPELLKNA MRATMESHLD TPYNVPDVVI 

       310        320        330        340        350        360 
TIANNDIDLI IRISDRGGGI AHKDLDRVMD YHFTTAEAST QDPRINPLFG HLDMHSGGQS 

       370        380        390        400        410 
GPMHGFGFGL PTSRAYAEYL GGSLQLQSLQ GIGTDVYLRL RHIDGREESF RI

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Murine branched chain alpha ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development." Doering C.B., Coursey C., Spangler W., Danner D.J. Gene 212:213-219(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J.
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Olfactory epithelium.
[3]	"Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice." Joshi M.A., Jeoung N.H., Obayashi M., Hattab E.M., Brocken E.G., Liechty E.A., Kubek M.J., Vattem K.M., Wek R.C., Harris R.A. Biochem. J. 400:153-162(2006) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE.
[4]	"Comprehensive identification of phosphorylation sites in postsynaptic density preparations." Trinidad J.C., Specht C.G., Thalhammer A., Schoepfer R., Burlingame A.L. Mol. Cell. Proteomics 5:914-922(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, MASS SPECTROMETRY. Tissue: Brain.
[5]	"Mitochondrial phosphoproteome revealed by an improved IMAC method and MS/MS/MS." Lee J., Xu Y., Chen Y., Sprung R., Kim S.C., Xie S., Zhao Y. Mol. Cell. Proteomics 6:669-676(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-35, MASS SPECTROMETRY. Tissue: Liver.
[6]	"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy." Novarino G., El-Fishawy P., Kayserili H., Meguid N.A., Scott E.M., Schroth J., Silhavy J.L., Kara M., Khalil R.O., Ben-Omran T., Ercan-Sencicek A.G., Hashish A.F., Sanders S.J., Gupta A.R., Hashem H.S., Matern D., Gabriel S., Sweetman L. , Rahimi Y., Harris R.A., State M.W., Gleeson J.G. Science 338:394-397(2012) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF043070 mRNA. Translation: AAB97689.1. BC046595 mRNA. Translation: AAH46595.1.
IPI	IPI00115094.
RefSeq	NP_033869.1. NM_009739.3.
UniGene	Mm.425495.
3D structure databases
ProteinModelPortal	O55028.
SMR	O55028. Positions 68-408.
ModBase	Search...
PTM databases
PhosphoSite	O55028.
Proteomic databases
PaxDb	O55028.
PRIDE	O55028.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000071056; ENSMUSP00000070345; ENSMUSG00000030802.
GeneID	12041.
KEGG	mmu:12041.
Organism-specific databases
CTD	10295.
MGI	MGI:1276121. Bckdk.
Phylogenomic databases
eggNOG	COG0642.
HOGENOM	HOG000164315.
HOVERGEN	HBG004829.
InParanoid	O55028.
KO	K00905.
OMA	HHLALHE.
OrthoDB	EOG49ZXPB.
Gene expression databases
ArrayExpress	O55028.
Bgee	O55028.
CleanEx	MM_BCKDK.
Genevestigator	O55028.
GermOnline	ENSMUSG00000030802. Mus musculus.
Family and domain databases
Gene3D	1.20.140.20. 1 hit. 3.30.565.10. 1 hit.
InterPro	IPR018955. BCDHK/PDK_N. IPR003594. HATPase_ATP-bd. IPR004358. Sig_transdc_His_kin-like_C. IPR005467. Sig_transdc_His_kinase_core. [Graphical view]
Pfam	PF10436. BCDHK_Adom3. 1 hit. PF02518. HATPase_c. 1 hit. [Graphical view]
PRINTS	PR00344. BCTRLSENSOR.
SMART	SM00387. HATPase_c. 1 hit. [Graphical view]
SUPFAM	SSF55874. ATP_bd_ATPase. 1 hit. SSF69012. BCDHK/PDK_N. 1 hit.
PROSITE	PS50109. HIS_KIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	280305.
SOURCE	Search...

Entry information

Entry name

BCKD_MOUSE

Accession

Primary (citable) accession number: O55028

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	June 1, 1998
Last modified:	May 1, 2013
This is version 115 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents