Reactome | BCKDHB [mitochondrial matrix]

BCKDHB [mitochondrial matrix]

Stable Identifier

R-HSA-70015

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

branched chain keto acid dehydrogenase E1, beta polypeptide

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Literature References

PubMed ID	Title	Journal	Year
7918575	Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence Chuang, DT, Wynn, RM, Kochi, H, Cox, RP	Biochim Biophys Acta	1994

External Reference Information

External Reference

UniProt:P21953 BCKDHB

Gene Names

BCKDHB

Chain

transit peptide:1-50, chain:51-392

Reference Genes

BioGPS Gene:594 BCKDHB

COSMIC (genes):BCKDHB BCKDHB

CTD Gene:594 BCKDHB

dbSNP Gene:594 BCKDHB

ENSEMBL:ENSG00000083123 BCKDHB

HGNC:987 BCKDHB

KEGG:hsa:594 BCKDHB

Monarch:594 BCKDHB

NCBI Gene:594 BCKDHB

OMIM:248611 BCKDHB

UCSC:P21953 BCKDHB

Reference Transcript

Other Identifiers

11723021_a_at

11723022_at

11723023_x_at

11724673_a_at

17010584

210653_PM_s_at

210653_s_at

213321_PM_at

213321_at

2914821

2914822

2914826

2914827

2914828

2914829

2914830

2914831

2914832

2914833

2914836

2914837

2914855

2914857

2914873

2914874

2914875

2914876

2914877

41682_s_at

41684_at

594

8120860

A_14_P110534

A_14_P128753

A_23_P93464

A_24_P914513

A_33_P3352873

GE79124

GO:0003824

GO:0003863

GO:0005515

GO:0005654

GO:0005730

GO:0005739

GO:0005759

GO:0006520

GO:0006629

GO:0007584

GO:0009083

GO:0016491

GO:0043226

GO:0044877

GO:0045252

GO:0047101

GO:0051384

GO:0051591

GO:0160157

HMNXSV003003913

HMNXSV003020268

Hs.1265.2.A1_3p_at

ILMN_1655433

ILMN_1764166

ILMN_2259949

ILMN_2390453

RNA147054|p0158_imsncRNA249

RNA147055|p0159_imsncRNA249

RNA147056|p0160_imsncRNA249

TC06000762.hg

U50708_at

g179361_3p_a_at

Participates

as a component of

Other forms of this molecule

p-S342-BCKDHB [mitochondrial matrix]

Q346R BCKDHB [mitochondrial matrix]

R183P BCKDHB [mitochondrial matrix]

R170H BCKDHB [mitochondrial matrix]

G278S BCKDHB [mitochondrial matrix]

N176Y BCKDHB [mitochondrial matrix]

H206R BCKDHB [mitochondrial matrix]

Inferred To

Bckdhb [mitochondrial matrix] (Drosophila melanogaster)

Ghost homologue of BCKDHB [mitochondrial matrix] (Canis familiaris)

bckd-1b [mitochondrial matrix] (Caenorhabditis elegans)

BCKDHB [mitochondrial matrix] (Bos taurus)

BCKDHB [mitochondrial matrix] (Dictyostelium discoideum)

BCKDHB [mitochondrial matrix] (Gallus gallus)

BCKDHB [mitochondrial matrix] (Mus musculus)

BCKDHB [mitochondrial matrix] (Plasmodium falciparum)

BCKDHB [mitochondrial matrix] (Rattus norvegicus)

BCKDHB [mitochondrial matrix] (Sus scrofa)

bckdhb [mitochondrial matrix] (Danio rerio)

bckdhb [mitochondrial matrix] (Xenopus tropicalis)

Cross References

RefSeq

NP_001305904.1, NP_898871.1, NP_000047.1

OpenTargets

ENSG00000083123

ENSEMBL

ENST00000369760, ENSP00000348880, ENST00000320393, ENST00000356489, ENSP00000318351, ENSP00000358775

HPA

ENSG00000083123-BCKDHB

PRO

P21953

Pharos - Targets

P21953

Orphanet

BCKDHB

GlyGen

P21953

HMDB Protein

HMDBP00299

PDB

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

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P06746 POLB	2	POLB [nucleoplasm] (R-HSA-53845) PolyUb-POLB [nucleoplasm] (R-HSA-6783152)	0.527	2
UniProt:P11182 DBT	11	Lipo-K105-DBT [mitochondrial matrix] (R-HSA-70017) Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859151) Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859144) 2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859145) LipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859167) DBT [mitochondrial matrix] (R-HSA-6792584) P276C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865046) S399C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865036) K313_Y338del Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865051) I98M Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865057) DBT [cytosol] (R-HSA-9714663)	0.527	2
UniProt:Q07954 LRP1	2	LRP1 [endocytic vesicle membrane] (R-HSA-2230981) LRP1 [plasma membrane] (R-HSA-1454844)	0.527	2