Gene/Proteome Database (LMPD)

LMPD ID
LMP000673
Gene ID
10295
Species
Homo sapiens (Human)
Gene Name
branched chain ketoacid dehydrogenase kinase
Gene Symbol
BCKDK
Synonyms
BCKDKD; BDK
Alternate Names
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; BCKDHKIN; BCKD-kinase; branched chain alpha-ketoacid dehydrogenase kinase
Chromosome
16
Map Location
16p11.2
EC Number
2.7.11.4
Summary
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Orthologs
View orthologs and multiple alignments for BCKDK

Proteins

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform a precursor
Refseq ID NP_005872
Protein GI 171906589
UniProt ID O14874
mRNA ID NM_005881
Length 412
RefSeq Status REVIEWED
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRLRHIDGREESFRI
transit_peptide: 1..30 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (By similarity); propagated from UniProtKB/Swiss-Prot (O14874.2) calculated_mol_wt: 3024 peptide sequence: MILASVLRSGPGGGLPLRPLLGPALALRAR mat_peptide: 31..365 product: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform b calculated_mol_wt: 38084 peptide sequence: STSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG transit_peptide: 1..30 calculated_mol_wt: 3024 peptide sequence: MILASVLRSGPGGGLPLRPLLGPALALRAR mat_peptide: 31..335 product: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform c calculated_mol_wt: 34762 peptide sequence: STSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG transit_peptide: 1..30 inference: non-experimental evidence, no additional details recorded note: Mitochondrion (By similarity); propagated from UniProtKB/Swiss-Prot (O14874.2) calculated_mol_wt: 3024 peptide sequence: MILASVLRSGPGGGLPLRPLLGPALALRAR mat_peptide: 31..412 product: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (O14874.2) calculated_mol_wt: 43355 peptide sequence: STSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRLRHIDGREESFRI
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform b precursor
Refseq ID NP_001116429
Protein GI 171906593
UniProt ID O14874
mRNA ID NM_001122957
Length 365
RefSeq Status REVIEWED
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform c
Refseq ID NP_001258855
Protein GI 429484478
UniProt ID O14874
mRNA ID NM_001271926
Length 335
RefSeq Status REVIEWED
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG

Gene Information

Entrez Gene ID
10295
Gene Name
branched chain ketoacid dehydrogenase kinase
Gene Symbol
BCKDK
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005947 ISS:HGNC C mitochondrial alpha-ketoglutarate dehydrogenase complex
GO:0005739 IDA:UniProt C mitochondrion
GO:0005524 ISS:HGNC F ATP binding
GO:0047323 IEA:UniProtKB-EC F [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity
GO:0016301 TAS:HGNC F kinase activity
GO:0004674 ISS:HGNC F protein serine/threonine kinase activity
GO:0009083 ISS:HGNC P branched-chain amino acid catabolic process
GO:0009063 NAS:UniProtKB P cellular amino acid catabolic process
GO:0016310 ISS:HGNC P phosphorylation
GO:0006468 ISS:GOC P protein phosphorylation

Domain Information

InterPro Annotations

Accession Description
IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
IPR003594 Histidine kinase-like ATPase, C-terminal domain
IPR005467 Signal transduction histidine kinase, core
IPR004358 Signal transduction histidine kinase-related protein, C-terminal

UniProt Annotations

Entry Information

Gene Name
branched chain ketoacid dehydrogenase kinase
Protein Entry
BCKD_HUMAN
UniProt ID
O14874
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O14874-1; Sequence=Displayed; Name=2; IsoId=O14874-2; Sequence=VSP_054604, VSP_054605; Note=No experimental confirmation available.; Name=3; IsoId=O14874-3; Sequence=VSP_054605; Note=No experimental confirmation available.;
Catalytic Activity ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate.
Disease Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM
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).
Interaction Q9WMX2:- (xeno); NbExp=2; IntAct=EBI-1046765, EBI-6863741; P40763:STAT3; NbExp=2; IntAct=EBI-1046765, EBI-518675;
Ptm Autophosphorylated.
Similarity Belongs to the PDK/BCKDK protein kinase family.
Similarity Contains 1 histidine kinase domain.
Subcellular Location Mitochondrion matrix.
Subunit Monomer.
Tissue Specificity Ubiquitous.
Web Resource Name=Protein Spotlight; Note=The silence within - Issue 147 of March 2013; URL="http://web.expasy.org/spotlight/back_issues/147";

Identical and Related Proteins

Unique RefSeq proteins for LMP000673 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
171906589 RefSeq NP_005872 412 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform a precursor
171906593 RefSeq NP_001116429 365 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform b precursor
429484478 RefSeq NP_001258855 335 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform c

Identical Sequences to LMP000673 proteins

Reference Database Accession Length Protein Name
GI:171906589 DBBJ BAI46721.1 412 branched chain ketoacid dehydrogenase kinase, partial [synthetic construct]
GI:429484478 GenBank AAH09872.1 335 BCKDK protein [Homo sapiens]
GI:429484478 GenBank EAW52160.1 335 branched chain ketoacid dehydrogenase kinase, isoform CRA_a [Homo sapiens]
GI:171906589 GenBank EAW52162.1 412 branched chain ketoacid dehydrogenase kinase, isoform CRA_b [Homo sapiens]
GI:171906593 GenBank EAW52163.1 365 branched chain ketoacid dehydrogenase kinase, isoform CRA_c [Homo sapiens]
GI:171906589 GenBank ABM84613.1 412 branched chain ketoacid dehydrogenase kinase [synthetic construct]
GI:171906589 GenBank ABM87863.1 412 branched chain ketoacid dehydrogenase kinase, partial [synthetic construct]
GI:171906589 GenBank AIC50582.1 412 BCKDK, partial [synthetic construct]
GI:429484478 GenBank AIC59608.1 335 BCKDK, partial [synthetic construct]
GI:171906589 GenBank AIC62671.1 412 BCKDK, partial [synthetic construct]

Related Sequences to LMP000673 proteins

Reference Database Accession Length Protein Name
GI:171906593 DBBJ BAI46721.1 412 branched chain ketoacid dehydrogenase kinase, partial [synthetic construct]
GI:429484478 EMBL CAG46890.1 412 BCKDK, partial [Homo sapiens]
GI:171906593 EMBL CAG46890.1 412 BCKDK, partial [Homo sapiens]
GI:171906589 GenBank AAB82714.1 412 branched chain alpha-ketoacid dehydrogenase kinase precursor [Homo sapiens]
GI:171906593 GenBank AAH07363.1 412 Branched chain ketoacid dehydrogenase kinase [Homo sapiens]
GI:171906593 GenBank AAE62839.1 412 Sequence 6 from patent US 6207148
GI:171906589 GenBank AAQ02398.1 413 branched chain alpha-ketoacid dehydrogenase kinase, partial [synthetic construct]
GI:429484478 GenBank EAW52161.1 412 branched chain ketoacid dehydrogenase kinase, isoform CRA_b [Homo sapiens]
GI:429484478 GenBank EAW52162.1 412 branched chain ketoacid dehydrogenase kinase, isoform CRA_b [Homo sapiens]
GI:429484478 GenBank EAW52164.1 382 branched chain ketoacid dehydrogenase kinase, isoform CRA_d [Homo sapiens]
GI:171906593 GenBank ABM87863.1 412 branched chain ketoacid dehydrogenase kinase, partial [synthetic construct]
GI:171906589 GenBank JAA05065.1 412 branched chain ketoacid dehydrogenase kinase [Pan troglodytes]
GI:171906589 GenBank JAA20389.1 412 branched chain ketoacid dehydrogenase kinase [Pan troglodytes]
GI:171906589 RefSeq XP_001156688.1 412 PREDICTED: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial [Pan troglodytes]
GI:171906593 RefSeq NP_005872.2 412 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform a precursor [Homo sapiens]
GI:429484478 RefSeq XP_003280505.1 335 PREDICTED: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform 2 [Nomascus leucogenys]
GI:171906589 RefSeq XP_004057578.1 412 PREDICTED: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial [Gorilla gorilla gorilla]
GI:429484478 SwissProt O14874.2 412 RecName: Full=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; AltName: Full=Branched-chain alpha-ketoacid dehydrogenase kinase; Short=BCKD-kinase; Short=BCKDHKIN; Flags: Precursor [Homo sapiens]