Reactome | BCKDHA [mitochondrial matrix]

BCKDHA [mitochondrial matrix]

Stable Identifier

R-HSA-70014

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

branched chain keto acid dehydrogenase E1, alpha 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:P12694 BCKDHA

Gene Names

BCKDHA

Chain

transit peptide:1-45, chain:46-445

Reference Genes

BioGPS Gene:593 BCKDHA

COSMIC (genes):BCKDHA BCKDHA

CTD Gene:593 BCKDHA

dbSNP Gene:593 BCKDHA

ENSEMBL:ENSG00000248098 BCKDHA

HGNC:986 BCKDHA

KEGG:hsa:593 BCKDHA

Monarch:593 BCKDHA

NCBI Gene:593 BCKDHA

OMIM:608348 BCKDHA

UCSC:P12694 BCKDHA

Reference Transcript

Other Identifiers

11733731_s_at

16862504

202331_PM_at

202331_at

37704_at

3834206

3834209

3834210

3834211

3834212

3834213

3834215

3834217

3834218

3834219

3834220

3834221

3834222

3834223

3834224

3834225

3834226

593

8029065

A_23_P67188

A_33_P3302305

GE60352

GO:0003824

GO:0003863

GO:0005515

GO:0005739

GO:0005759

GO:0006520

GO:0009083

GO:0016491

GO:0016624

GO:0016829

GO:0016831

GO:0043226

GO:0045252

GO:0046872

GO:0047101

GO:0160157

HMNXSV003002234

ILMN_1735979

PH_hs_0020110

PH_hs_0040098

TC19002636.hg

Z14093_at

g11386134_3p_at

Participates

as a component of

Other forms of this molecule

Y438N BCKDHA [mitochondrial matrix]

A285P BCKDHA [mitochondrial matrix]

G290R BCKDHA [mitochondrial matrix]

T310R BCKDHA [mitochondrial matrix]

G249S BCKDHA [mitochondrial matrix]

Y413C BCKDHA [mitochondrial matrix]

Inferred To

Ghost homologue of BCKDHA [mitochondrial matrix] (Xenopus tropicalis)

BCKDHA [mitochondrial matrix] (Bos taurus)

BCKDHA [mitochondrial matrix] (Caenorhabditis elegans)

BCKDHA [mitochondrial matrix] (Dictyostelium discoideum)

BCKDHA [mitochondrial matrix] (Gallus gallus)

BCKDHA [mitochondrial matrix] (Mus musculus)

BCKDHA [mitochondrial matrix] (Plasmodium falciparum)

BCKDHA [mitochondrial matrix] (Rattus norvegicus)

BCKDHA [mitochondrial matrix] (Sus scrofa)

TMEM91 [mitochondrial matrix] (Canis familiaris)

bckdha [mitochondrial matrix] (Danio rerio)

Bckdha [mitochondrial matrix] (Drosophila melanogaster)

Cross References

RefSeq

NP_000700.1, NP_001158255.1

OpenTargets

ENSG00000248098

ENSEMBL

ENSP00000416000, ENST00000457836, ENST00000269980, ENSP00000269980

HPA

ENSG00000248098-BCKDHA

PRO

P12694

Pharos - Targets

P12694

Orphanet

BCKDHA

HMDB Protein

HMDBP00300

PDB

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

Interactors (1)

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