Reactome | I98M Lipo-K105-DBT [mitochondrial matrix]

I98M Lipo-K105-DBT [mitochondrial matrix]

Stable Identifier

R-HSA-9865057

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

dihydrolipoamide branched chain transacylase E2, DBT

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Literature References

PubMed ID	Title	Journal	Year
3597778	Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease Indo, Y, Kitano, A, Endo, F, Akaboshi, I, Matsuda, I	J Clin Invest	1987
9621512	Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex Tsuruta, M, Mitsubuchi, H, Mardy, S, Miura, Y, Hayashida, Y, Kinugasa, A, Ishitsu, T, Matsuda, I, Indo, Y	J Hum Genet	1998

External Reference Information

External Reference

UniProt:P11182 DBT

Gene Names

DBT, BCATE2, BCKDHE2

Chain

transit peptide:1-61, chain:62-482

Reference Genes

BioGPS Gene:1629 DBT

COSMIC (genes):DBT DBT

CTD Gene:1629 DBT

dbSNP Gene:1629 DBT

ENSEMBL:ENSG00000137992 DBT

HGNC:2698 DBT

KEGG:hsa:1629 DBT

Monarch:1629 DBT

NCBI Gene:1629 DBT

OMIM:248610 DBT

UCSC:P11182 DBT

Reference Transcript

RefSeq:NM_001918.5 DBT

Other Identifiers

11731509_x_at

11731510_at

11731511_s_at

11751182_a_at

11752357_a_at

11762117_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

211196_3p_at

211196_PM_at

211196_at

231919_PM_at

231919_at

2425203

2425205

2425207

2425209

2425210

2425211

2425213

2425214

2425215

2425216

2425217

2425218

2425219

2425220

2425221

2425222

2425226

2425231

2425233

2425234

2425237

2425238

2425239

2425240

2425241

2425242

2425243

244687_PM_at

244687_at

37862_at

51919_at

7918008

86425_at

A_23_P74022

A_24_P28524

A_32_P50005

A_33_P3291594

A_33_P3308949

GE59930

GE85471

GO:0005515

GO:0005739

GO:0005759

GO:0005829

GO:0005856

GO:0006520

GO:0009083

GO:0015630

GO:0016740

GO:0016746

GO:0016747

GO:0031625

GO:0042645

GO:0043754

GO:0120552

GO:0160157

HMNXSV003008442

HMNXSV003021704

Hs.199210.0.A1_3p_at

Hs.257043.0.S1_3p_at

ILMN_1714990

ILMN_1887403

M19301_at

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

g186635_3p_at

g186635_3p_x_at

g4503264_3p_at

g736674_3p_a_at

Participates

as a member of

DBT mutants [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

Lipo-K105-DBT [mitochondrial matrix]

Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix]

Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix]

2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix]

LipoH2-K105-DBT [mitochondrial matrix]

DBT [mitochondrial matrix]

P276C Lipo-K105-DBT [mitochondrial matrix]

S399C Lipo-K105-DBT [mitochondrial matrix]

K313_Y338del Lipo-K105-DBT [mitochondrial matrix]

DBT [cytosol]

Modified Residues

Name

N6-lipoyl-L-lysine at 105

Coordinate

105

PsiMod Name

N6-lipoyl-L-lysine [MOD:00127]

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

PsiMod

L-methionine residue [MOD:00022]

A protein modification that effectively converts a source amino acid residue to L-methionine.

L-isoleucine removal [MOD:01640]

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

NP_001909.4

ClinGen

CA121802

OpenTargets

ENSG00000137992

ENSEMBL

ENSP00000359151, ENST00000370132, ENSG00000137992

Mondo

0009563

PRO

P11182

GlyGen

P11182

PDB

1ZWV, 1K8M, 2COO, 3RNM, 1K8O

GeneCards

DBT

HPA

ENSG00000137992-DBT

Pharos - Targets

P11182

Orphanet

DBT

HMDB Protein

HMDBP03078

Interactors (26)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8N3J5 PPM1K	2	H139Hfs13* PPM1K [mitochondrial matrix] (R-HSA-9912515) PPM1K [mitochondrial matrix] (R-HSA-5693145)	0.788	8
UniProt:Q8TAA5 GRPEL2	1	GRPEL2 [mitochondrial inner membrane] (R-HSA-1252076)	0.708	4
UniProt:P20333 TNFRSF1B	3	TNFRSF1B(27-?) [plasma membrane] (R-HSA-6785037) TNFRSF1B [plasma membrane] (R-HSA-5661484) TNFRSF1B [specific granule membrane] (R-HSA-6806149)	0.669	3
UniProt:Q9BVS5 TRMT61B	1	TRMT61B [mitochondrial matrix] (R-HSA-6787512)	0.643	3
UniProt:Q9H845 ACAD9	1	ACAD9 [mitochondrial inner membrane] (R-HSA-5689049)	0.643	3
UniProt:Q8N4Q0 PTGR3			0.643	4
UniProt:Q96E11 MRRF	1	MRRF [mitochondrial matrix] (R-HSA-5419265)	0.623	3
UniProt:Q96EY8 MMAB	4	MMAB E193K [mitochondrial matrix] (R-HSA-3322150) MMAB R191W [mitochondrial matrix] (R-HSA-3322112) MMAB R186W [mitochondrial matrix] (R-HSA-3322128) MMAB [mitochondrial matrix] (R-HSA-2980970)	0.623	4
UniProt:P13073 COX4I1	2	COX4I1 [mitochondrial inner membrane] (R-HSA-164305) COX4I1 [mitochondrial intermembrane space] (R-HSA-9865413)	0.564	2
UniProt:Q9Y2D0 CA5B	1	CA5B [mitochondrial matrix] (R-HSA-1237023)	0.564	2
UniProt:Q96PE7 MCEE	1	MCEE [mitochondrial matrix] (R-HSA-71012)	0.527	3
UniProt:Q16878 CDO1	1	CDO1 [cytosol] (R-HSA-1614586)	0.527	2
UniProt:Q9Y234 LIPT1	1	LIPT1 [mitochondrial matrix] (R-HSA-6792623)	0.527	3
UniProt:P35914 HMGCL	3	HMGCL(1-325) [peroxisomal matrix] (R-HSA-9033125) HMGCL(1-325) [cytosol] (R-HSA-9033112) HMGCL [mitochondrial matrix] (R-HSA-74172)	0.527	2
UniProt:Q8TEB1 DCAF11	1	DCAF11 [nucleoplasm] (R-HSA-8863251)	0.527	2
UniProt:Q96GK7 FAH2A			0.527	2
UniProt:P30084 ECHS1	17	ECHS1 [mitochondrial matrix] (R-HSA-54125) A2V ECHS1 [mitochondrial matrix] (R-HSA-9916688) T180A ECHS1 [mitochondrial matrix] (R-HSA-9916687) A238V ECHS1 [mitochondrial matrix] (R-HSA-9916686) A132T ECHS1 [mitochondrial matrix] (R-HSA-9916665) G195S ECHS1 [mitochondrial matrix] (R-HSA-9916681) K273E ECHS1 [mitochondrial matrix] (R-HSA-9916680) R54H ECHS1 [mitochondrial matrix] (R-HSA-9916676) I66T ECHS1 [mitochondrial matrix] (R-HSA-9916659) D150G ECHS1 [mitochondrial matrix] (R-HSA-9916674) A158D ECHS1 [mitochondrial matrix] (R-HSA-9916689) C225R ECHS1 [mitochondrial matrix] (R-HSA-9916672) N59S ECHS1 [mitochondrial matrix] (R-HSA-9916684) A138V ECHS1 [mitochondrial matrix] (R-HSA-9916683) E77Q ECHS1 [mitochondrial matrix] (R-HSA-9916667) F33S ECHS1 [mitochondrial matrix] (R-HSA-9916682) Q159R ECHS1 [mitochondrial matrix] (R-HSA-9916666)	0.527	3
UniProt:Q8NI37 PPTC7			0.527	2
UniProt:Q9UK39 NOCT	1	CCRN4L [nucleoplasm] (R-HSA-508391)	0.527	2
UniProt:P09622 DLD	8	DLD [mitochondrial matrix] (R-HSA-69978) M361V DLD [mitochondrial matrix] (R-HSA-9907714) I393T DLD [mitochondrial matrix] (R-HSA-9907713) E375K DLD [mitochondrial matrix] (R-HSA-9907711) R495G DLD [mitochondrial matrix] (R-HSA-9907710) G229C DLD [mitochondrial matrix] (R-HSA-9907709) D479V DLD [mitochondrial matrix] (R-HSA-9907708) I47T DLD [mitochondrial matrix] (R-HSA-9907707)	0.527	2
UniProt:Q9UBN7 HDAC6	4	HDAC6 [lysosomal lumen] (R-HSA-9660002) HDAC6 [cytosol] (R-HSA-5324660) HDAC6 [late endosome lumen] (R-HSA-9659980) HDAC6 [nucleoplasm] (R-HSA-351589)	0.527	2
UniProt:P21953 BCKDHB	8	BCKDHB [mitochondrial matrix] (R-HSA-70015) p-S342-BCKDHB [mitochondrial matrix] (R-HSA-5693124) Q346R BCKDHB [mitochondrial matrix] (R-HSA-9865060) R183P BCKDHB [mitochondrial matrix] (R-HSA-9865041) R170H BCKDHB [mitochondrial matrix] (R-HSA-9865071) G278S BCKDHB [mitochondrial matrix] (R-HSA-9865069) N176Y BCKDHB [mitochondrial matrix] (R-HSA-9865063) H206R BCKDHB [mitochondrial matrix] (R-HSA-9865047)	0.527	2
UniProt:Q5T1C6 THEM4	3	THEM4 [cytosol] (R-HSA-6809345) THEM4 [mitochondrial matrix] (R-HSA-162408) THEM4 [plasma membrane] (R-HSA-199437)	0.527	2
UniProt:P10606 COX5B	1	COX5B [mitochondrial inner membrane] (R-HSA-164307)	0.527	2
UniProt:P11234 RALB	1	RALB [cytosol] (R-HSA-171015)	0.527	2
UniProt:Q6IN84 MRM1	1	MRM1 [mitochondrial matrix] (R-HSA-6793088)	0.527	3

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