R224P BCKDK [mitochondrial matrix]

Stable Identifier
R-HSA-9912466
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
R224P BCKDK [mitochondrial matrix] icon
R224P BCKDK [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
22956686 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Khalil, RO, Harris, RA, Ben-Omran, T, State, MW, Gleeson, JG, Hashish, AF, El-Fishawy, P, Schroth, J, Novarino, G, Scott, EM, Meguid, NA, Ercan-Sencicek, AG, Gabriel, S, Sanders, SJ, Matern, D, Hashem, HS, Kara, M, Kayserili, H, Sweetman, L, Gupta, AR, Rahimi, Y, Silhavy, JL

Science 2012
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 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:0003824
GO:0004672
GO:0004674
GO:0004722
GO:0004740
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0006520
GO:0006629
GO:0008610
GO:0009063
GO:0009083
GO:0010510
GO:0010906
GO:0016301
GO:0016310
GO:0016740
GO:0016772
GO:0016787
GO:0043226
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]
R174Gfs1* BCKDK [mitochondrial matrix]
L389P BCKDK [mitochondrial matrix]
R156* BCKDK [mitochondrial matrix]
Modified Residues
Name
L-arginine 224 replaced with L-proline
Coordinate
224
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
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
PRO
GlyGen
PDB
IntEnz
HPA
GeneCards
Pharos - Targets
Orphanet
HMDB Protein
Interactors (3)
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