MitoProteome Database

MT000186

Record overview

MITO ID	MT000186
Gene ID	1738
Species	Homo sapiens (Human)
Gene Name	dihydrolipoamide dehydrogenase
Gene Symbol	DLD
Synonyms	E3; LAD; DLDD; DLDH; GCSL; PHE3;
Alternate names	dihydrolipoyl dehydrogenase, mitochondrial; diaphorase; lipoamide reductase; lipoyl dehydrogenase; lipoamide dehydrogenase; glycine cleavage system L protein; glycine cleavage system protein L; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex;
Chromosome	7
Map Location	7q31-q32
EC Number	1.8.1.4
Summary	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Orthologs	View orthologs and multiple alignments for DLD

Proteins

dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor

Refseq ID:	NP_000099
Protein GI:	91199540
UniProt ID:	P09622
mRNA ID:	NM_000108
Length:	509
RefSeq Status:

MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHM
AHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTI
VSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
AEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA
WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLA
ASFGKSINF

N
transit_peptide: 1..35
experiment: experimental evidence, no additional details recorded
note: Mitochondrion; propagated from UniProtKB/Swiss-Prot (P09622.2)
calculated_mol_wt: 4021
peptide sequence: 
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTY

mat_peptide: 36..509
product: Dihydrolipoyl dehydrogenase, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P09622.2)
calculated_mol_wt: 50175
peptide sequence: 
ADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALT
GGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRL
GADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRG
RIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADT
DGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF

dihydrolipoyl dehydrogenase, mitochondrial isoform 2

Refseq ID:	NP_001276679
Protein GI:	576583534
UniProt ID:	P09622
mRNA ID:	NM_001289750
Length:	410
RefSeq Status:

MAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDT
IVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGG
KAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEV
AWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANL
AASFGKSINF

N
transit_peptide: 1..35
experiment: experimental evidence, no additional details recorded
note: Mitochondrion; propagated from UniProtKB/Swiss-Prot (P09622.2)
calculated_mol_wt: 4021
peptide sequence: 
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTY

mat_peptide: 36..509
product: Dihydrolipoyl dehydrogenase, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P09622.2)
calculated_mol_wt: 50175
peptide sequence: 
ADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALT
GGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRL
GADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRG
RIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADT
DGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF

dihydrolipoyl dehydrogenase, mitochondrial isoform 3

Refseq ID:	NP_001276680
Protein GI:	576583539
UniProt ID:	P09622
mRNA ID:	NM_001289751
Length:	486
RefSeq Status:

MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKM
MEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGV
IGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLG
LEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF
AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF

dihydrolipoyl dehydrogenase, mitochondrial isoform 4

Refseq ID:	NP_001276681
Protein GI:	576583544
UniProt ID:	P09622
mRNA ID:	NM_001289752
Length:	461
RefSeq Status:

MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHM
AHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHV
GGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIP
NIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTD
RVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF