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FLASH GENE

Symbol

DLD

contributors: npt/shn - updated : 06-11-2012

HGNC name	dihydrolipoamide dehydrogenase
HGNC id	2898

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	30.06 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

a "CAAT box"-like sequence is present at 39 bp upstream of the presumptive cap site, a Sp1 binding site, a nuclear respiratory factor 1 site, two cyclic AMP response element binding sites, pTR5 repetitive element, and a possible negative response element present in the insulin promoter in 2.0 kb-5'UTR region

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S496 - D7S2459 - DLD - D7S2456 - D7S692 - qter
Authors	Lai (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000108 14 - 3579 NP_000099 - 509 - -

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens NM_000108 Digestive liver       moderately Rattus norvegicus NM_199385 Nervous brain       moderately Homo sapiens NM_000108   brain       lowly Rattus norvegicus NM_199385 Urinary kidney       moderately Rattus norvegicus NM_199385

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast Homo sapiens NM_000108

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a pyridine nucleotide disulphide oxidoreductase domain
	a NAD+ small domain in a large FAD domain
	an interaction domain with E2, through E3BP (PDHX)

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to Dld, Rattus norvegicus
	ortholog to Dld, Mus musculus
	ortholog to dld, Danio rerio
	ortholog to DLD, Pan troglodytes

Homologene

FAMILY

class-I pyridine nucleotide-disulfide oxidoreductase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner

basic FUNCTION

catalyzing the oxidation of dihydrolipoamide, hE3 uses two molecules : non-covalently bound FAD and a transiently bound substrate, NAD+

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

mitochondrial transport

PATHWAY

metabolism

organic acid

signaling

a component

E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, FAD dependent,reducing NAD+

INTERACTION

DNA

RNA

small molecule	cofactor,
	a FAD per subunit

protein

E3-binding domain of E3BP

cell & other

REGULATION

activated by

thyroid hormones

ASSOCIATED DISORDERS

corresponding disease(s)

DLDD

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	E340K, D444V, R447G, and R460G mutations in the dimer interface domain of dihydrolipoamide dehydrogenase (DLD) decrease to various degrees its activity
	under elevated oxidative stress, expression of DLD proteins with dimer interface mutations greatly accelerated the loss of respiratory function, leading to oxidative damage to the lipoic acid cofactor of pyruvate dehydrogenase and &
	945;-ketoglutarate dehydrogenase