Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10295
Gene name	Branched chain keto acid dehydrogenase kinase
Gene symbol	BCKDK
Synonyms (NCBI Gene)	BCKDKDBDK
Chromosome	16
Chromosome location	16p11.2
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 BCK

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142542453	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145180240	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, intron variant, synonymous variant
rs147210405	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs369521689	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs374121679	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514573	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025739	hsa-miR-7-5p	Microarray	19073608
MIRT027050	hsa-miR-103a-3p	Sequencing	20371350
MIRT047623	hsa-miR-10a-5p	CLASH	23622248
MIRT046097	hsa-miR-125b-5p	CLASH	23622248
MIRT040528	hsa-miR-92b-3p	CLASH	23622248
MIRT040213	hsa-miR-615-3p	CLASH	23622248
MIRT040213	hsa-miR-615-3p	CLASH	23622248
MIRT524776	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT524775	hsa-miR-3675-3p	PAR-CLIP	23446348
MIRT524774	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT524773	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT524772	hsa-miR-3926	PAR-CLIP	23446348
MIRT524771	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT524770	hsa-miR-548s	PAR-CLIP	23446348
MIRT524776	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT524775	hsa-miR-3675-3p	PAR-CLIP	23446348
MIRT524774	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT524773	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT524772	hsa-miR-3926	PAR-CLIP	23446348
MIRT524771	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT524770	hsa-miR-548s	PAR-CLIP	23446348
MIRT818091	hsa-miR-18a	CLIP-seq
MIRT818092	hsa-miR-18b	CLIP-seq
MIRT818093	hsa-miR-1972	CLIP-seq
MIRT818094	hsa-miR-3149	CLIP-seq
MIRT818095	hsa-miR-3151	CLIP-seq
MIRT818096	hsa-miR-4447	CLIP-seq
MIRT818097	hsa-miR-4468	CLIP-seq
MIRT818098	hsa-miR-4472	CLIP-seq
MIRT818099	hsa-miR-4690-5p	CLIP-seq
MIRT818100	hsa-miR-4735-3p	CLIP-seq
MIRT818101	hsa-miR-4792	CLIP-seq
MIRT818102	hsa-miR-491-5p	CLIP-seq
MIRT818103	hsa-miR-568	CLIP-seq
MIRT1941824	hsa-miR-1266	CLIP-seq
MIRT1941825	hsa-miR-3155	CLIP-seq
MIRT1941826	hsa-miR-3155b	CLIP-seq
MIRT1941827	hsa-miR-3664-3p	CLIP-seq
MIRT1941828	hsa-miR-4286	CLIP-seq
MIRT1941829	hsa-miR-4290	CLIP-seq
MIRT1941830	hsa-miR-4518	CLIP-seq
MIRT1941831	hsa-miR-4755-3p	CLIP-seq
MIRT1941832	hsa-miR-484	CLIP-seq
MIRT1941828	hsa-miR-4286	CLIP-seq
MIRT1941829	hsa-miR-4290	CLIP-seq
MIRT2180692	hsa-miR-602	CLIP-seq
MIRT1941828	hsa-miR-4286	CLIP-seq
MIRT1941829	hsa-miR-4290	CLIP-seq
MIRT2180692	hsa-miR-602	CLIP-seq
MIRT2484117	hsa-miR-103a	CLIP-seq
MIRT2484118	hsa-miR-107	CLIP-seq
MIRT2484119	hsa-miR-1205	CLIP-seq
MIRT2484120	hsa-miR-147	CLIP-seq
MIRT2484121	hsa-miR-1909	CLIP-seq
MIRT2484122	hsa-miR-3911	CLIP-seq
MIRT2484123	hsa-miR-4302	CLIP-seq
MIRT818097	hsa-miR-4468	CLIP-seq
MIRT2484124	hsa-miR-4519	CLIP-seq
MIRT818099	hsa-miR-4690-5p	CLIP-seq
MIRT2484125	hsa-miR-4786-5p	CLIP-seq
MIRT818101	hsa-miR-4792	CLIP-seq
MIRT2484126	hsa-miR-644	CLIP-seq
MIRT2484127	hsa-miR-769-5p	CLIP-seq
MIRT2484119	hsa-miR-1205	CLIP-seq
MIRT2484121	hsa-miR-1909	CLIP-seq
MIRT818093	hsa-miR-1972	CLIP-seq
MIRT818097	hsa-miR-4468	CLIP-seq
MIRT818099	hsa-miR-4690-5p	CLIP-seq
MIRT818101	hsa-miR-4792	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	29779826
GO:0004740	Function	Pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA
GO:0005515	Function	Protein binding	IPI	18985028, 21988832, 28514442, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	11839747
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006550	Process	L-isoleucine catabolic process	IEA
GO:0006552	Process	L-leucine catabolic process	IEA
GO:0006574	Process	L-valine catabolic process	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008610	Process	Lipid biosynthetic process	IMP	29779826
GO:0009063	Process	Amino acid catabolic process	NAS	2403034
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	ISS
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS	11839747
GO:0010510	Process	Regulation of pyruvate decarboxylation to acetyl-CoA	IBA
GO:0010906	Process	Regulation of glucose metabolic process	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	TAS	11839747
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	ISS
GO:0045252	Component	Oxoglutarate dehydrogenase complex	TAS	11839747
GO:0047323	Function	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140096	Function	Catalytic activity, acting on a protein	IEA

MIM	HGNC	e!Ensembl
614901	16902	ENSG00000103507

O14874

Protein name

Branched-chain alpha-ketoacid dehydrogenase kinase (BCKDH kinase) (BCKDHKIN) (BDK) (EC 2.7.11.1) ([3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial) (EC 2.7.11.4)

Protein function

Serine/threonine-protein kinase component of macronutrients metabolism. Forms a functional kinase and phosphatase pair with PPM1K, serving as a metabolic regulatory node that coordinates branched-chain amino acids (BCAAs) with glucose and lipid

PDB

8F5F , 8F5J , 8F5S , 9DI9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10436	BCDHK_Adom3	69 → 222	Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase	Family
PF02518	HATPase_c	265 → 403	Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAID
AAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNP
TILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLDDHKDVVTLLAEGLRESRKHI
EDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVI
TIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQS
GPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRLRHIDGREESFRI

Sequence length

412

Interactions

View interactions

	Reactome
			Branched-chain amino acid catabolism

108

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Branched-chain keto acid dehydrogenase kinase deficiency	Pathogenic; Likely pathogenic	rs2143936992, rs1035318937, rs377423130, rs2544145079, rs369521689, rs397514573, rs2057392733, rs147210405	RCV001706906 RCV002267564 RCV003388178 RCV003487268 RCV000503689 RCV000032959 RCV000032960 RCV000032961
Intellectual disability	Likely pathogenic	rs2057404166	RCV001291529
See cases	Likely pathogenic	rs989757942	RCV002253080

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BCKDK-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs370950849, rs933735430, rs199965337, rs780549207, rs765367733, rs1440509074, rs2544148016, rs531591891, rs141335706	RCV003940906 RCV003968665 RCV003949933 RCV003410894 RCV003418789 RCV003904328 RCV003917243 RCV003942270 RCV003945405
Clear cell carcinoma of kidney	Uncertain significance	rs118042732	RCV005888385
Familial cancer of breast	Benign	rs889555	RCV005917391
Malignant tumor of esophagus	Uncertain significance	rs118042732	RCV005888384
Maple syrup urine disease, mild variant	Uncertain significance	rs2544147133	RCV003159264
Papillary renal cell carcinoma type 1	-	rs2143940438	RCV005930177
Uveal melanoma	Uncertain significance	rs118042732	RCV005888386

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	29777097
Autism Spectrum Disorder	Associate	35216372
Autistic Disorder	Associate	26809120
Brain Diseases	Associate	35216372
Breast Neoplasms	Stimulate	37460470
Carcinoma Renal Cell	Associate	37715534
Developmental Disabilities	Associate	35216372
Epileptic Encephalopathy Early Infantile 3	Associate	35216372
Fatty Liver	Associate	35797133
Glioblastoma	Associate	38054015
Hyperkinesis	Associate	35216372
Kidney Neoplasms	Associate	37715534
Lewy Body Disease	Associate	28917824
Maple Syrup Urine Disease	Associate	26809120, 35205278
Metabolic Diseases	Associate	35216372
Microcephaly	Associate	35216372
Mitochondrial Diseases	Associate	26809120
Neoplasm Metastasis	Stimulate	37460470, 37715534
Neoplasms	Associate	37715534
Neurodegenerative Diseases	Associate	29777097
Non alcoholic Fatty Liver Disease	Associate	35797133
Parkinson Disease	Associate	28917824, 33436766, 35332097
Polycystic Ovary Syndrome	Associate	33678329

BCKDK (branched chain keto acid dehydrogenase kinase)