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BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)

Gene

593

Branched chain keto acid dehydrogenase E1 subunit alpha

BCKDHA

BCKDE1A, MSU, MSUD1, MSUD1A, OVD1A

19q13.2

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex con

Show/Hide all(64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852870	T>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852871	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852872	T>G	Pathogenic	Coding sequence variant, missense variant
rs137852873	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs137852874	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852875	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852876	C>G	Pathogenic	Coding sequence variant, missense variant
rs146932786	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147021347	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151227241	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182923857	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199599175	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs201168715	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs367823977	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs373336888	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs373390136	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373713279	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs374625613	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs375785084	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs376456598	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs398123486	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs398123489	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs398123490	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123491	C>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs398123492	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123493	C>A	Pathogenic	Stop gained, coding sequence variant
rs398123496	G>A	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs398123497	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs398123499	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs398123503	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123504	->T	Pathogenic	Coding sequence variant, frameshift variant
rs398123505	TCT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs398123508	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123509	A>C	Pathogenic	Coding sequence variant, missense variant
rs398123510	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123512	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123513	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123514	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs398123515	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs753216964	G>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs753698250	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs760494152	A>G	Pathogenic	Splice acceptor variant, intron variant
rs762084007	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs762199542	C>T	Pathogenic	Coding sequence variant, stop gained
rs764247545	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765543886	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs773048903	G>A	Pathogenic	Missense variant, coding sequence variant
rs794727847	AGGCCCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796051938	TACG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225262	A>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs869312124	G>C	Pathogenic	Missense variant, coding sequence variant
rs869312125	A>C	Pathogenic	Missense variant, coding sequence variant
rs1057519059	C>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1330793674	CAGCACCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555765593	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555766066	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555766993	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555767028	G>T	Likely-pathogenic	Splice donor variant
rs1555767090	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555767169	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1555767285	A>G	Likely-pathogenic	Splice acceptor variant
rs1568503938	T>C	Pathogenic	Coding sequence variant, missense variant
rs1568506608	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599962569	CCAAGGCTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044243	hsa-miR-29c-3p	CLASH	23622248
MIRT041443	hsa-miR-193b-3p	CLASH	23622248
MIRT818021	hsa-miR-1185	CLIP-seq
MIRT818022	hsa-miR-1293	CLIP-seq
MIRT818023	hsa-miR-2392	CLIP-seq
MIRT818024	hsa-miR-3605-5p	CLIP-seq
MIRT818025	hsa-miR-3615	CLIP-seq
MIRT818026	hsa-miR-3679-5p	CLIP-seq
MIRT818027	hsa-miR-4483	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2180690	hsa-miR-4656	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT818021	hsa-miR-1185	CLIP-seq
MIRT818022	hsa-miR-1293	CLIP-seq
MIRT818023	hsa-miR-2392	CLIP-seq
MIRT818024	hsa-miR-3605-5p	CLIP-seq
MIRT818026	hsa-miR-3679-5p	CLIP-seq
MIRT818027	hsa-miR-4483	CLIP-seq
MIRT2484072	hsa-miR-1303	CLIP-seq
MIRT2484073	hsa-miR-1539	CLIP-seq
MIRT2484074	hsa-miR-1909	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT2484075	hsa-miR-2110	CLIP-seq
MIRT2484076	hsa-miR-3127-3p	CLIP-seq
MIRT2484077	hsa-miR-3140-5p	CLIP-seq
MIRT2484078	hsa-miR-3151	CLIP-seq
MIRT2484079	hsa-miR-3160-3p	CLIP-seq
MIRT2484080	hsa-miR-3184	CLIP-seq
MIRT2484081	hsa-miR-331-3p	CLIP-seq
MIRT2484082	hsa-miR-3650	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT2484083	hsa-miR-423-5p	CLIP-seq
MIRT2484084	hsa-miR-4271	CLIP-seq
MIRT2484085	hsa-miR-4283	CLIP-seq
MIRT2484086	hsa-miR-4290	CLIP-seq
MIRT2484087	hsa-miR-4292	CLIP-seq
MIRT2484088	hsa-miR-4300	CLIP-seq
MIRT2484089	hsa-miR-4419a	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2484090	hsa-miR-4481	CLIP-seq
MIRT2484091	hsa-miR-4489	CLIP-seq
MIRT2484092	hsa-miR-4510	CLIP-seq
MIRT2484093	hsa-miR-4540	CLIP-seq
MIRT2484094	hsa-miR-455-5p	CLIP-seq
MIRT2484095	hsa-miR-4632	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT2484096	hsa-miR-4667-5p	CLIP-seq
MIRT2484097	hsa-miR-4700-5p	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT2484098	hsa-miR-4725-3p	CLIP-seq
MIRT2484099	hsa-miR-4745-5p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT2484100	hsa-miR-496	CLIP-seq
MIRT2484101	hsa-miR-554	CLIP-seq
MIRT2484102	hsa-miR-626	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2484103	hsa-miR-7	CLIP-seq
MIRT2484104	hsa-miR-765	CLIP-seq
MIRT2484105	hsa-miR-877	CLIP-seq
MIRT2484106	hsa-miR-885-3p	CLIP-seq
MIRT2484107	hsa-miR-920	CLIP-seq
MIRT2484072	hsa-miR-1303	CLIP-seq
MIRT2484073	hsa-miR-1539	CLIP-seq
MIRT2484074	hsa-miR-1909	CLIP-seq
MIRT1941782	hsa-miR-194	CLIP-seq
MIRT2484075	hsa-miR-2110	CLIP-seq
MIRT2484076	hsa-miR-3127-3p	CLIP-seq
MIRT2484077	hsa-miR-3140-5p	CLIP-seq
MIRT2484079	hsa-miR-3160-3p	CLIP-seq
MIRT2484080	hsa-miR-3184	CLIP-seq
MIRT2484081	hsa-miR-331-3p	CLIP-seq
MIRT2484082	hsa-miR-3650	CLIP-seq
MIRT1941783	hsa-miR-3661	CLIP-seq
MIRT2180689	hsa-miR-3692	CLIP-seq
MIRT1941784	hsa-miR-3929	CLIP-seq
MIRT2484083	hsa-miR-423-5p	CLIP-seq
MIRT2484084	hsa-miR-4271	CLIP-seq
MIRT2484086	hsa-miR-4290	CLIP-seq
MIRT2484087	hsa-miR-4292	CLIP-seq
MIRT2484088	hsa-miR-4300	CLIP-seq
MIRT2484089	hsa-miR-4419a	CLIP-seq
MIRT1941785	hsa-miR-4419b	CLIP-seq
MIRT1941786	hsa-miR-4438	CLIP-seq
MIRT1941787	hsa-miR-4478	CLIP-seq
MIRT2484090	hsa-miR-4481	CLIP-seq
MIRT2484092	hsa-miR-4510	CLIP-seq
MIRT2484093	hsa-miR-4540	CLIP-seq
MIRT2484094	hsa-miR-455-5p	CLIP-seq
MIRT2484095	hsa-miR-4632	CLIP-seq
MIRT1941788	hsa-miR-4659a-5p	CLIP-seq
MIRT1941789	hsa-miR-4659b-5p	CLIP-seq
MIRT2484096	hsa-miR-4667-5p	CLIP-seq
MIRT2484097	hsa-miR-4700-5p	CLIP-seq
MIRT2180691	hsa-miR-4709-3p	CLIP-seq
MIRT1941790	hsa-miR-4722-3p	CLIP-seq
MIRT2484098	hsa-miR-4725-3p	CLIP-seq
MIRT2484099	hsa-miR-4745-5p	CLIP-seq
MIRT1941791	hsa-miR-4769-3p	CLIP-seq
MIRT2484100	hsa-miR-496	CLIP-seq
MIRT2484101	hsa-miR-554	CLIP-seq
MIRT2484102	hsa-miR-626	CLIP-seq
MIRT1941792	hsa-miR-631	CLIP-seq
MIRT2484103	hsa-miR-7	CLIP-seq
MIRT2484104	hsa-miR-765	CLIP-seq
MIRT2484105	hsa-miR-877	CLIP-seq
MIRT2484106	hsa-miR-885-3p	CLIP-seq
MIRT2484107	hsa-miR-920	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003826	Function	Alpha-ketoacid dehydrogenase activity	IBA	21873635
GO:0003826	Function	Alpha-ketoacid dehydrogenase activity	IDA	7883996
GO:0003863	Function	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IEA
GO:0005515	Function	Protein binding	IPI	12902323, 15166214, 15576032, 28514442
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	TAS	11839747
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005947	Component	Mitochondrial alpha-ketoglutarate dehydrogenase complex	IBA	21873635
GO:0005947	Component	Mitochondrial alpha-ketoglutarate dehydrogenase complex	IDA	7883996
GO:0009083	Process	Branched-chain amino acid catabolic process	IBA	21873635
GO:0009083	Process	Branched-chain amino acid catabolic process	IDA	7883996
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0016831	Function	Carboxy-lyase activity	TAS	11839747
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608348	986	ENSG00000248098

Protein

UniProt ID

P12694

Protein name

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain) (BCKDE1A) (BCKDH E1-alpha)

Protein function

Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the b

PDB

1DTW , 1OLS , 1OLU , 1OLX , 1U5B , 1V11 , 1V16 , 1V1M , 1V1R , 1WCI , 1X7W , 1X7X , 1X7Y , 1X7Z , 1X80 , 2BEU , 2BEV , 2BEW , 2BFB , 2BFC , 2BFD , 2BFE , 2BFF , 2J9F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00676	E1_dh	106 → 406	Dehydrogenase E1 component	Family

Sequence

MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAE
FIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILY
ESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYG
NISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGA
ASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDG
NDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHP
ISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL
RKQQESLARHLQTYGEHYPLDHFDK

Sequence length

445

Interactions

View interactions

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