Reactome | E375K DLD [mitochondrial matrix]

E375K DLD [mitochondrial matrix]

Stable Identifier

R-HSA-9907711

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)
        
        E375K DLD [mitochondrial matrix] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
16770810	Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity Renaud, DL, Robinson, BH, Elpeleg, O, Feigenbaum, A, Cameron, JM, Clarke, JT, MacKay, N, Raiman, J, Levandovskiy, V	Am J Med Genet A	2006
9540846	Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing Powell, BR, Liu, TC, Lusk, M, Kerr, DS, Patel, MS, Hong, YS	Biochim Biophys Acta	1997
11687750	Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency Cerna, L, Peskova, K, Zeman, J, Chrastina, P, Brynda, J, Hansikova, H, Kmoch, S, Wenchich, L	Med Sci Monit	2001

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:0003824

GO:0004148

GO:0005515

GO:0005634

GO:0005737

GO:0005739

GO:0005759

GO:0005929

GO:0006086

GO:0006090

GO:0006091

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:0034604

GO:0042391

GO:0043159

GO:0043226

GO:0045252

GO:0045254

GO:0047101

GO:0048240

GO:0050660

GO:0055086

GO:0160157

GO:0160167

GO:1901135

GO:1902493

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]

I393T DLD [mitochondrial matrix]

R495G DLD [mitochondrial matrix]

G229C DLD [mitochondrial matrix]

D479V DLD [mitochondrial matrix]

I47T DLD [mitochondrial matrix]

Modified Residues

Name

L-glutamine 375 replaced with L-lysine

Coordinate

375

PsiMod

L-lysine residue [MOD:00021]

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

L-glutamine removal [MOD:01637]

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

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

CA256137

OpenTargets

ENSG00000091140

ENSEMBL

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

HPA

ENSG00000091140-DLD

GeneCards

DLD

PRO

P09622

Pharos - Targets

P09622

Orphanet

DLD

GlyGen

P09622

HMDB Protein

HMDBP00054

PDB

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

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:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	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: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:P55072 VCP	8	VCP [cytosol] (R-HSA-1181251) VCP [ficolin-1-rich granule lumen] (R-HSA-6800425) VCP [extracellular region] (R-HSA-6806191) VCP [secretory granule lumen] (R-HSA-6801039) VCP [azurophil granule lumen] (R-HSA-6800438) VCP [nucleoplasm] (R-HSA-5643745) VCP [endoplasmic reticulum membrane] (R-HSA-8943105) Me3K315-VCP [cytosol] (R-HSA-8932209)	0.527	3
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) 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) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.483	5

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