DLD

GENERAL INFORMATION

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Gene name

DLD

Gene description

Dihydrolipoamide dehydrogenase

Protein class

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

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA044849
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

1738

UniProt

P09622 (UniProt - Evidence at protein level)

neXtProt

NX_P09622

Antibodypedia

DLD antibodies


PROTEIN BROWSER

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ENST00000205402
 
ENST00000437604
 
ENST00000440410
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DLD-001 ENSP00000205402
ENST00000205402
P09622
Show all »
Show » Show » 509 54.2 No 0
DLD-003 ENSP00000417016
ENST00000440410
E9PEX6
Show all »
Show » Show » 486 51.8 No 0
DLD-005 ENSP00000387542
ENST00000437604
P09622
Show all »
Show » Show » 461 49.3 No 0