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DLD

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GENERAL INFORMATION

Gene name

 DLD

Gene description

 Dihydrolipoamide dehydrogenase

Protein class

 Citric acid cycle related proteins
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the mitochondria.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Mitochondria (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA044849
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the mitochondria.

Main location

 Mitochondria (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA044849 A-431 Mitochondria
HPA044849 U-2 OS Nucleoplasm
Mitochondria
HPA044849 U-251 MG Mitochondria

GENE INFORMATION

Gene name

 DLD (HGNC Symbol)

Synonyms

 DLDH, GCSL, LAD

Description

 Dihydrolipoamide dehydrogenase (HGNC Symbol)

Entrez gene 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]

Chromosome

 7

Cytoband

 q31.1

Chromosome location (bp)

 107890970 - 107931730

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000091140 (version 83.38)

Entrez gene

 1738

UniProt

 P09622 (UniProt - Evidence at protein level)

neXtProt

 NX_P09622

Antibodypedia

 DLD antibodies

PROTEIN BROWSER
DLD-001
DLD-003
DLD-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DLD-001
ENSP00000205402
ENST00000205402
P09622 [Direct mapping]
Dihydrolipoyl dehydrogenase, mitochondrial
A0A024R713 [Target identity:100%; Query identity:100%]
Dihydrolipoyl dehydrogenase
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Enzymes
   ENZYME proteins
   Oxidoreductases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Citric acid cycle related proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004148 [dihydrolipoyl dehydrogenase activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005929 [cilium]
GO:0006086 [acetyl-CoA biosynthetic process from pyruvate]
GO:0006090 [pyruvate metabolic process]
GO:0006099 [tricarboxylic acid cycle]
GO:0006103 [2-oxoglutarate metabolic process]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0006508 [proteolysis]
GO:0006554 [lysine catabolic process]
GO:0007369 [gastrulation]
GO:0007568 [aging]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0009106 [lipoate metabolic process]
GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate]
GO:0016491 [oxidoreductase activity]
GO:0016668 [oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor]
GO:0034604 [pyruvate dehydrogenase (NAD+) activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042391 [regulation of membrane potential]
GO:0043159 [acrosomal matrix]
GO:0043209 [myelin sheath]
GO:0043544 [lipoamide binding]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045252 [oxoglutarate dehydrogenase complex]
GO:0045254 [pyruvate dehydrogenase complex]
GO:0045454 [cell redox homeostasis]
GO:0046487 [glyoxylate metabolic process]
GO:0048240 [sperm capacitation]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0051068 [dihydrolipoamide metabolic process]
GO:0051287 [NAD binding]
GO:0055114 [oxidation-reduction process]
GO:0061732 [mitochondrial acetyl-CoA biosynthetic process from pyruvate]
Show all
 509 aa
54.2 kDa 		No 0
DLD-003
ENSP00000417016
ENST00000440410
E9PEX6 [Direct mapping]
Dihydrolipoyl dehydrogenase
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Citric acid cycle related proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004148 [dihydrolipoyl dehydrogenase activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0016491 [oxidoreductase activity]
GO:0045454 [cell redox homeostasis]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
Show all
 486 aa
51.8 kDa 		No 0
DLD-005
ENSP00000387542
ENST00000437604
P09622 [Direct mapping]
Dihydrolipoyl dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Citric acid cycle related proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004148 [dihydrolipoyl dehydrogenase activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006090 [pyruvate metabolic process]
GO:0006099 [tricarboxylic acid cycle]
GO:0006554 [lysine catabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate]
GO:0016491 [oxidoreductase activity]
GO:0016668 [oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor]
GO:0034604 [pyruvate dehydrogenase (NAD+) activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045254 [pyruvate dehydrogenase complex]
GO:0045454 [cell redox homeostasis]
GO:0046487 [glyoxylate metabolic process]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0055114 [oxidation-reduction process]
GO:0061732 [mitochondrial acetyl-CoA biosynthetic process from pyruvate]
Show all
 461 aa
49.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.