I98M Lipo-K105-DBT [mitochondrial matrix]

Stable Identifier
R-HSA-9865057
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
dihydrolipoamide branched chain transacylase E2, DBT
I98M Lipo-K105-DBT [mitochondrial matrix] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
DBT, BCATE2, BCKDHE2
Chain
transit peptide:1-61, chain:62-482
Reference Transcript
Other Identifiers
11731509_x_at
11731510_at
11731511_s_at
11751182_a_at
11752357_a_at
1629
16690103
205369_3p_x_at
205369_PM_x_at
205369_x_at
205370_PM_x_at
205370_x_at
205371_PM_s_at
205371_s_at
231919_PM_at
231919_at
2425203
2425205
2425207
2425209
2425210
2425211
2425213
2425214
2425215
2425216
2425217
2425218
2425219
2425221
2425231
2425233
2425234
2425237
2425238
2425239
2425240
2425242
244687_PM_at
244687_at
51919_at
7918008
86425_at
A_23_P74022
A_24_P28524
A_32_P50005
A_33_P3308949
GE59930
GE85471
GO:0003824
GO:0005515
GO:0005737
GO:0005739
GO:0005759
GO:0005829
GO:0005856
GO:0005947
GO:0006520
GO:0008289
GO:0009083
GO:0015630
GO:0016407
GO:0016740
GO:0016746
GO:0019752
GO:0031405
GO:0031625
GO:0042645
GO:0043226
GO:0043754
GO:1990204
HMNXSV003008442
Hs.199210.0.A1_3p_at
Hs.257043.0.S1_3p_at
ILMN_1714990
ILMN_1887403
M27093_s_at
PH_hs_0013509
PH_hs_0021360
PH_hs_0027858
TC01002918.hg
X66785_at
g179353_3p_a_at
g179353_3p_x_at
g186635_3p_a_at
g4503264_3p_at
g736674_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
N6-lipoyl-L-lysine at 105
Coordinate
105
PsiMod Name
PsiMod Definition
A protein modification that effectively converts an L-lysine residue to N6-lipoyl-L-lysine.
Name
L-isoleucine 98 replaced with L-methionine
Coordinate
98
PsiMod
A protein modification that effectively converts a source amino acid residue to L-methionine.
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
Cross References
RefSeq
ClinGen
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (23)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8N3J5 PPM1K  2 0.725 7
 UniProt:Q9H845 ACAD9  1 0.643 3
 UniProt:Q8TAA5 GRPEL2  1 0.623 3
 UniProt:Q96E11 MRRF  1 0.623 3
 UniProt:Q9Y2D0 CA5B  1 0.564 2
 UniProt:P13073 COX4I1  2 0.564 2
 UniProt:P20333 TNFRSF1B  3 0.564 2
 UniProt:Q8NI37 PPTC7      0.527 2
 UniProt:Q6IN84 MRM1  1 0.527 3
 UniProt:P11234 RALB  1 0.527 2
 UniProt:P30084 ECHS1  17 0.527 3
 UniProt:Q96GK7 FAH2A      0.527 2
 UniProt:Q8TEB1 DCAF11  1 0.527 2
 UniProt:Q8N4Q0 PTGR3      0.527 3
 UniProt:Q9BVS5 TRMT61B  1 0.527 2
 UniProt:Q5T1C6 THEM4  3 0.527 2
 UniProt:P21953 BCKDHB  8 0.527 2
 UniProt:Q9Y234 LIPT1  1 0.527 3
 UniProt:Q9UBN7 HDAC6  4 0.527 2
 UniProt:P09622 DLD  8 0.527 2
 UniProt:Q16878 CDO1  1 0.527 2
 UniProt:Q9UK39 NOCT  1 0.527 2
 UniProt:Q96EY8 MMAB  4 0.499 3
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