L389P BCKDK [mitochondrial matrix]

Stable Identifier
R-HSA-9912461
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial ecNumber2.7.11.4/ecNumber, BCKD_HUMAN
Icon
L389P BCKDK [mitochondrial matrix] icon
L389P BCKDK [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
24449431 Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

Garcia-Cazorla, A, Oyarzabal, A, Fort, J, Robles, C, Castejón, E, Ruiz-Sala, P, Bodoy, S, Merinero, B, Lopez-Sala, A, Dopazo, J, Nunes, V, Ugarte, M, Artuch, R, Palacin, M, Rodríguez-Pombo, P, Alcaide, P, Navarrete, R, Sanz, P, Font-Llitjós, M, Vilaseca, MA, Ormaizabal, A, Pristoupilova, A, Agulló, SB

Hum. Mutat. 2014
External Reference Information
External Reference
UniProt:O14874 BCKDK
Gene Names
BCKDK
Chain
transit peptide:1-30, chain:31-412
Reference Genes
BioGPS Gene:10295 BCKDK
COSMIC (genes):BCKDK BCKDK
CTD Gene:10295 BCKDK
dbSNP Gene:10295 BCKDK
ENSEMBL:ENSG00000103507 BCKDK
HGNC:16902 BCKDK
KEGG:hsa:10295 BCKDK
Monarch:10295 BCKDK
NCBI Entrez Gene:10295 BCKDK
OMIM:614901 BCKDK
UCSC:O14874 BCKDK
Reference Transcript
Other Identifiers
10295
11719705_a_at
11743293_a_at
11743294_x_at
11744767_x_at
16818165
202030_PM_at
202030_at
32828_at
3656830
3656831
3656832
3656833
3656834
3656835
3656836
3656837
3656838
3656839
3656840
3656841
3656842
3656843
3656844
3656845
3656846
3656847
3656848
3656849
3656850
3656851
3656852
3656853
3656854
7995040
A_14_P123905
A_23_P365149
A_23_P3823
GE54207
GO:0000166
GO:0003824
GO:0004672
GO:0004674
GO:0004722
GO:0004740
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0006520
GO:0006550
GO:0006552
GO:0006574
GO:0006629
GO:0007283
GO:0008610
GO:0009063
GO:0009083
GO:0010510
GO:0010906
GO:0016301
GO:0016310
GO:0016740
GO:0016772
GO:0016787
GO:0022414
GO:0045252
GO:0047323
GO:0106310
GO:0140096
HMNXSV003033146
ILMN_1693394
PH_hs_0001785
TC16000370.hg
g5031608_3p_at
Participates
as a component of
Other forms of this molecule
BCKDK [mitochondrial matrix]
R224P BCKDK [mitochondrial matrix]
R174Gfs1* BCKDK [mitochondrial matrix]
R156* BCKDK [mitochondrial matrix]
Modified Residues
Name
L-leucine 389 replaced with L-proline
Coordinate
389
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
branched-chain keto acid dehydrogenase kinase deficiency DOID:0090126 BCKDKD, BCKDK deficiency, autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ENSEMBL
Mondo
PRO
GlyGen
PDB
IntEnz
HPA
GeneCards
Pharos - Targets
Orphanet
HMDB Protein
Interactors (3)
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