BCKDK - branched chain keto acid dehydrogenase kinase Gene

Also Known as BDK; BCKDKD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10295

About BCKDK

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,108,386-31,117,640 (from NCBI)

This gene has 10 transcripts (splice variants), 188 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 12.8), heart (RPKM 12.4) and 25 other tissues.

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]

BCKDK Products (3)

mRNA	Protein	Name
NM_001122957.4	NP_001116429.1	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform b precursor
NM_001271926.3	NP_001258855.1	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform c
NM_005881.4	NP_005872.2	[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform a precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18985028	GOA
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	29779826	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	29779826	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCKDK Protein Structure

BCDHK_Adom3

HATPase_c

0
100
200
300
412 a.a.

Protein Preferred Names	Protein Names
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial 3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial	BCKD-kinase

Protein Preferred Names

Protein Names

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

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

BCKD-kinase

BCKDK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BCKDK	O14874	SPTA1	Homo sapiens	P02549	Validated Y2H	32296183
Intra	BCKDK	O14874	SPTA1	Homo sapiens	P02549	Y2H Array	32296183
Intra	BCKDK	O14874	SPTA1	Homo sapiens	P02549	Y2H Prey Pooling	32296183
Intra	BCKDK	O14874	STAT3	Homo sapiens	P40763	Pull Down	21988832
Cross	BCKDK	O14874	Q9WMX2-PRO_0000037548	Hepatitis C virus	Q9WMX2-PRO_0000037548	Y2H Prey Pooling	18985028
Cross	BCKDK	O14874	Q9WMX2-PRO_0000037548	Hepatitis C virus	Q9WMX2-PRO_0000037548	Pull Down	18985028

Cross: Cross-species interaction Intra: Intraspecies interaction

BCKDK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82992	BCKDK Antibody (YA2737)	WB	Human, Mouse, Rat
HY-P82992A	BCKDK Antibody (YA2737)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	BCKDKD Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Bckdk Deficiency Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	CMTX6 Charcot-Marie-Tooth Disease X-Linked Dominant 6 Cmt6x X-Linked Charcot-Marie-Tooth Disease Type 6 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 Charcot-Marie-Tooth Neuropathy X-Linked 6 Charcot-Marie-Tooth Disease, X-Linked, Type 6
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Ceroid Lipofuscinosis, Neuronal, 2	Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis 2 CLN2 Lincl Cln2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset Cln2 Disease, Juvenile Cln2 Disease, Late Infantile Late-Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Late-Infantile Classic Late Infantile Ncl Classic Late Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 2 Late-Infantile Neuronal Ceroid Lipfuscinosis
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01411	BCKDK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19988	Bckdk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26492	Bckdk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BCKDK	VGNC	VGNC:70085
Felis catus	BCKDK	VGNC	VGNC:60082
Rattus norvegicus	BCKDK	RGD	RGD:2198
Mus musculus	BCKDK	MGD	MGI:1276121
Canis familiaris	BCKDK	VGNC	VGNC:38407
Bos taurus	BCKDK	VGNC	VGNC:26444
Others	BCKDK	NCBI