Reactome | I393T DLD [mitochondrial matrix]

I393T DLD [mitochondrial matrix]

Stable Identifier

R-HSA-9907713

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

Dihydrolipoamide dehydrogenase, mitochondrial, Glycine cleavage system L protein

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Diseases of branched-chain amino acid catabolism (Homo sapiens)
    - Maple Syrup Urine Disease (Homo sapiens)
      - Loss-of-function mutations in DLD cause MSUD3/DLDD (Homo sapiens)
        
        Loss-of-function DLD mutants don't dehydrogenate dihydrolipoyl DBT (Homo sapiens)
        
        DLD mutant-BCKDH [mitochondrial matrix] (Homo sapiens)
        
        mutant DLD dimer:2xFAD [mitochondrial matrix] (Homo sapiens)
        
        mutant DLD dimer [mitochondrial matrix] (Homo sapiens)
        
        DLD mutants [mitochondrial matrix] (Homo sapiens)
        
        I393T DLD [mitochondrial matrix] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
12925875	Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation Grafakou, O, Oexle, K, Van den Heuvel, L, Smeets, R, Trijbels, F, Goebel, HH, Bosshard, N, Superti-Furga, A, Steinmann, B, Smeitink, J	Eur J Pediatr	2003

External Reference Information

External Reference

UniProt:P09622 DLD

Gene Names

DLD, GCSL, LAD, PHE3

Chain

transit peptide:1-35, chain:36-509

Reference Genes

BioGPS Gene:1738 DLD

COSMIC (genes):DLD DLD

CTD Gene:1738 DLD

dbSNP Gene:1738 DLD

ENSEMBL:ENSG00000091140 DLD

HGNC:2898 DLD

KEGG:hsa:1738 DLD

Monarch:1738 DLD

NCBI Gene:1738 DLD

OMIM:238331 DLD

UCSC:P09622 DLD

Reference Transcript

Other Identifiers

11718108_a_at

11718109_s_at

11718110_x_at

11718111_at

11748212_x_at

11748488_a_at

11749540_x_at

17050300

1738

209095_PM_at

209095_at

230426_PM_at

230426_at

3018702

3018703

3018704

3018705

3018706

3018707

3018712

3018713

3018714

3018715

3018716

3018717

3018718

3018719

3018720

3018722

3018723

3018724

3018725

3018726

3018728

3018729

3018730

3018731

3018732

3018733

36163_at

8135464

85745_at

A_14_P103503

A_14_P134041

A_23_P111835

A_33_P3344579

GE60491

GO:0000166

GO:0001669

GO:0004148

GO:0005515

GO:0005634

GO:0005737

GO:0005739

GO:0005759

GO:0005929

GO:0006086

GO:0006091

GO:0006099

GO:0006103

GO:0006120

GO:0006508

GO:0006520

GO:0006790

GO:0007369

GO:0009083

GO:0016491

GO:0016668

GO:0022414

GO:0031410

GO:0031514

GO:0042391

GO:0042995

GO:0043159

GO:0043226

GO:0045252

GO:0045254

GO:0048240

GO:0050660

GO:0055086

GO:0120551

GO:0120552

GO:0160157

GO:0160167

HMNXSV003043647

Hs.74635.1.A1_3p_at

ILMN_1664577

L13761_rna1_at

PH_hs_0004260

TC07000697.hg

g181574_3p_at

Participates

as a candidate of

DLD mutants [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

DLD [mitochondrial matrix]

M361V DLD [mitochondrial matrix]

E375K DLD [mitochondrial matrix]

R495G DLD [mitochondrial matrix]

G229C DLD [mitochondrial matrix]

D479V DLD [mitochondrial matrix]

I47T DLD [mitochondrial matrix]

Modified Residues

Name

L-isoleucine 393 replaced with L-threonine

Coordinate

393

PsiMod

L-isoleucine removal [MOD:01640]

A protein modification that effectively removes or replaces an L-isoleucine.

L-threonine residue [MOD:00026]

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

Disease

Name	Identifier	Synonyms
maple syrup urine disease	DOID:9269	dihydrolipoamide dehydrogenase deficiency

Cross References

RefSeq

NP_001276679.1, NP_000099.2, NP_001276681.1, NP_001276680.1

ClinGen

CA256135

OpenTargets

ENSG00000091140

ENSEMBL

ENST00000437604, ENSP00000205402, ENST00000417551, ENSP00000390667, ENSG00000091140, ENSP00000387542, ENST00000205402

Mondo

0009563

PRO

P09622

GlyGen

P09622

PDB

1ZY8, 6HG8, 1ZMC, 7PSC, 6I4R, 6I4Q, 6I4T, 5NHG, 6I4S, 6I4P, 6I4Z, 5J5Z, 2F5Z, 6I4U, 7ZYT, 3RNM, 1ZMD

HPA

ENSG00000091140-DLD

GeneCards

DLD

Pharos - Targets

P09622

Orphanet

DLD

HMDB Protein

HMDBP00054

Interactors (9)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	3
UniProt:P11182 DBT	11	Lipo-K105-DBT [mitochondrial matrix] (R-HSA-70017) Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859151) Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859144) 2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859145) LipoH2-K105-DBT [mitochondrial matrix] (R-HSA-9859167) DBT [mitochondrial matrix] (R-HSA-6792584) P276C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865046) S399C Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865036) K313_Y338del Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865051) I98M Lipo-K105-DBT [mitochondrial matrix] (R-HSA-9865057) DBT [cytosol] (R-HSA-9714663)	0.527	2
UniProt:Q7L3T8 PARS2	1	PARS2 [mitochondrial matrix] (R-HSA-379686)	0.527	2
UniProt:P36957 DLST	5	Lipo-K110-DLST [mitochondrial matrix] (R-HSA-69993) SuccinyllipoH2-K110-DLST [mitochondrial matrix] (R-HSA-9853502) LipoH2-K110-DLST [mitochondrial matrix] (R-HSA-9853485) GlutaryllipoH2-K110-DLST [mitochondrial matrix] (R-HSA-9858581) DLST [mitochondrial matrix] (R-HSA-6792574)	0.527	2
UniProt:P10515 DLAT	4	Lipo-K259-DLAT [mitochondrial matrix] (R-HSA-69969) AcetyllipoH2-K132,K259-DLAT [mitochondrial matrix] (R-HSA-9861594) LipoH2-K259-DLAT [mitochondrial matrix] (R-HSA-9861664) DLAT [mitochondrial matrix] (R-HSA-6792585)	0.527	2
UniProt:P55072 VCP	8	VCP [cytosol] (R-HSA-1181251) VCP [azurophil granule lumen] (R-HSA-6800438) VCP [extracellular region] (R-HSA-6806191) VCP [secretory granule lumen] (R-HSA-6801039) VCP [ficolin-1-rich granule lumen] (R-HSA-6800425) VCP [nucleoplasm] (R-HSA-5643745) VCP [endoplasmic reticulum membrane] (R-HSA-8943105) Me3K315-VCP [cytosol] (R-HSA-8932209)	0.527	3
UniProt:P62136 PPP1CA	2	PPP1CA [cytosol] (R-HSA-163525) PPP1CA [nucleoplasm] (R-HSA-61995)	0.527	2
UniProt:P62258 YWHAE	1	YWHAE [cytosol] (R-HSA-194368)	0.499	5
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279)	0.483	5

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