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Aliases for DLD Gene

Aliases for DLD Gene

  • Dihydrolipoamide Dehydrogenase 2 3 4
  • PHE3 3 4 6
  • LAD 3 4 6
  • Glycine Cleavage System L Protein 3 4
  • EC 1.8.1.4 4 63
  • GCSL 3 4
  • DLDD 3 6
  • Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex) 2
  • E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex 3
  • E3 Component Of Pyruvate Dehydrogenase Complex 2
  • Branched Chain Keto Acid Dehydrogenase Complex 2
  • Dihydrolipoyl Dehydrogenase, Mitochondrial 3
  • Glycine Cleavage System Protein L 3
  • 2-Oxo-Glutarate Complex 2
  • Lipoamide Dehydrogenase 3
  • Lipoyl Dehydrogenase 3
  • Lipoamide Reductase 3
  • Diaphorase 3
  • EC 1.8.1 63
  • DLDH 3
  • E3 3

External Ids for DLD Gene

Previous HGNC Symbols for DLD Gene

  • LAD
  • GCSL

Previous GeneCards Identifiers for DLD Gene

  • GC07P106015
  • GC07P107078
  • GC07P107092
  • GC07P107125
  • GC07P107318
  • GC07P107531
  • GC07P101894

Summaries for DLD Gene

Entrez Gene Summary for DLD Gene

  • 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]

GeneCards Summary for DLD Gene

DLD (Dihydrolipoamide Dehydrogenase) is a Protein Coding gene. Diseases associated with DLD include dihydrolipoamide dehydrogenase deficiency and dihydrolipoamide dehydrogenase e3 deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and dihydrolipoyl dehydrogenase activity.

UniProtKB/Swiss-Prot for DLD Gene

  • Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction

Gene Wiki entry for DLD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLD Gene

Genomics for DLD Gene

Regulatory Elements for DLD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DLD Gene

Start:
107,890,970 bp from pter
End:
107,931,730 bp from pter
Size:
40,761 bases
Orientation:
Plus strand

Genomic View for DLD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DLD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLD Gene

Proteins for DLD Gene

  • Protein details for DLD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09622-DLDH_HUMAN
    Recommended name:
    Dihydrolipoyl dehydrogenase, mitochondrial
    Protein Accession:
    P09622
    Secondary Accessions:
    • B2R5X0
    • B4DHG0
    • B4DT69
    • Q14131
    • Q14167
    • Q59EV8
    • Q8WTS4

    Protein attributes for DLD Gene

    Size:
    509 amino acids
    Molecular mass:
    54177 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per subunit.;
    Quaternary structure:
    • Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds.
    Miscellaneous:
    • The active site is a redox-active disulfide bond
    SequenceCaution:
    • Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLD Gene

    Alternative splice isoforms for DLD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLD Gene

Proteomics data for DLD Gene at MOPED

Post-translational modifications for DLD Gene

  • Tyrosine phosphorylated.
  • Ubiquitination at Lys104, Lys132, Lys143, Lys320, Lys346, and Lys440
  • Modification sites at PhosphoSitePlus

Other Protein References for DLD Gene

Domains for DLD Gene

Graphical View of Domain Structure for InterPro Entry

P09622

UniProtKB/Swiss-Prot:

DLDH_HUMAN :
  • P09622
Family:
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
genes like me logo Genes that share domains with DLD: view

No data available for Gene Families for DLD Gene

Function for DLD Gene

Molecular function for DLD Gene

GENATLAS Biochemistry: dihydrolipoyl dehydrogenase (E3 component of pyruvate,2-oxo-ketoglutarate and branched chain keto acid dehydrogenase complexes),inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity: Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH
UniProtKB/Swiss-Prot Function: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction

Enzyme Numbers (IUBMB) for DLD Gene

Gene Ontology (GO) - Molecular Function for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004148 dihydrolipoyl dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity --
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with DLD: view

Phenotypes for DLD Gene

genes like me logo Genes that share phenotypes with DLD: view

Animal Models for DLD Gene

MGI Knock Outs for DLD:

Animal Model Products

CRISPR Products

miRNA for DLD Gene

miRTarBase miRNAs that target DLD

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLD

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for DLD Gene

Localization for DLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLD Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLD Gene COMPARTMENTS Subcellular localization image for DLD gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
vacuole 2

Gene Ontology (GO) - Cellular Components for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DLD: view

Pathways for DLD Gene

genes like me logo Genes that share pathways with DLD: view

PCR Array Products

Gene Ontology (GO) - Biological Process for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
GO:0006508 proteolysis IEA --
GO:0006554 lysine catabolic process TAS --
genes like me logo Genes that share ontologies with DLD: view

Compounds for DLD Gene

(16) HMDB Compounds for DLD Gene

Compound Synonyms Cas Number PubMed IDs
2-Hydroxybutyric acid
  • (RS)-2-Hydroxybutyrate
600-15-7
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
22594-61-2
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Carbon dioxide
  • Carbon oxide
124-38-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0

(3) Drugbank Compounds for DLD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Flavin-Adenine Dinucleotide
146-14-5 target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target

(20) Novoseek inferred chemical compound relationships for DLD Gene

Compound -log(P) Hits PubMed IDs
dihydrolipoamide 98.6 138
lipoamide 90.4 11
pyruvate 82.1 36
alpha-ketoglutarate 78 12
2-oxo acid 76 4
genes like me logo Genes that share compounds with DLD: view

Transcripts for DLD Gene

Unigene Clusters for DLD Gene

Dihydrolipoamide dehydrogenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLD Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - - -
SP2: - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: -
SP7: - - -
SP8: -

Relevant External Links for DLD Gene

GeneLoc Exon Structure for
DLD
ECgene alternative splicing isoforms for
DLD

Expression for DLD Gene

mRNA expression in normal human tissues for DLD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLD Gene

This gene is overexpressed in Heart - Left Ventricle (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DLD Gene

SOURCE GeneReport for Unigene cluster for DLD Gene Hs.131711

genes like me logo Genes that share expressions with DLD: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DLD Gene

Orthologs for DLD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLD 35
  • 99.67 (n)
  • 100 (a)
DLD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DLD 35
  • 93.32 (n)
  • 97.45 (a)
DLD 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLD 35
  • 93.98 (n)
  • 98.04 (a)
DLD 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dld 35
  • 90.57 (n)
  • 94.89 (a)
Dld 16
Dld 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLD 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLD 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dld 35
  • 90.7 (n)
  • 94.7 (a)
chicken
(Gallus gallus)
Aves DLD 35
  • 80.31 (n)
  • 89.57 (a)
DLD 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLD 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dld-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dld 35
  • 78.59 (n)
  • 86.44 (a)
Str.1427 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9547 35
zebrafish
(Danio rerio)
Actinopterygii dldh 35
  • 74.13 (n)
  • 84.36 (a)
dldh 36
  • 83 (a)
OneToOne
Dr.1051 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011629 35
  • 59.82 (n)
  • 70.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7430 35
  • 60.05 (n)
  • 68.92 (a)
CG7430 36
  • 67 (a)
OneToOne
CG7430 37
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea dld-1 35
  • 64.41 (n)
  • 72.67 (a)
dld-1 36
  • 71 (a)
OneToOne
LLC1.3 37
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR512W 35
  • 56.2 (n)
  • 60.82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LPD1 35
  • 60.55 (n)
  • 58.75 (a)
LPD1 36
  • 55 (a)
OneToOne
LPD1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11154g 35
  • 59.76 (n)
  • 58.1 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8079 35
thale cress
(Arabidopsis thaliana)
eudicotyledons mtLPD2 35
  • 59.78 (n)
  • 58.28 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.901 35
corn
(Zea mays)
Liliopsida Zm.8412 35
rice
(Oryza sativa)
Liliopsida Os.1506 35
Os01g0328700 35
  • 57.7 (n)
  • 56.26 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6265 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02407 35
  • 54.47 (n)
  • 56.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dld1 35
  • 60.94 (n)
  • 59.23 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9257 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4589 36
  • 73 (a)
OneToOne
Species with no ortholog for DLD:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DLD Gene

ENSEMBL:
Gene Tree for DLD (if available)
TreeFam:
Gene Tree for DLD (if available)

Paralogs for DLD Gene

Selected SIMAP similar genes for DLD Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DLD: view

No data available for Paralogs for DLD Gene

Variants for DLD Gene

Sequence variations from dbSNP and Humsavar for DLD Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1034 -- 107,919,738(+) TGATG(C/T)AAGTA utr-variant-3-prime
rs1239 -- 107,919,792(-) CTACC(A/C)CTAAA utr-variant-3-prime
rs4518 -- 107,919,746(+) GTAAA(C/T)GGTCT utr-variant-3-prime
rs4564 -- 107,919,466(+) CTAAT(A/G)TGTAA utr-variant-3-prime
rs8440 -- 107,920,947(+) TTATT(A/G)GAAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DLD Gene

Variant ID Type Subtype PubMed ID
nsv831088 CNV Loss 17160897
esv34192 CNV Loss 18971310
esv259654 OTHER Complex 20981092

Relevant External Links for DLD Gene

HapMap Linkage Disequilibrium report
DLD
Human Gene Mutation Database (HGMD)
DLD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLD Gene

Disorders for DLD Gene

(1) OMIM Diseases for DLD Gene (238331)

UniProtKB/Swiss-Prot

DLDH_HUMAN
  • Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. {ECO:0000269 PubMed:8506365, ECO:0000269 PubMed:8968745, ECO:0000269 PubMed:9934985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DLD Gene

(8) Novoseek inferred disease relationships for DLD Gene

Disease -log(P) Hits PubMed IDs
primary lactic acidosis 89.5 1
acidosis lactic 61.9 2
biliary cirrhosis primary 40 3
metabolic acidosis 29.1 1
microcephaly 27.2 1

Genatlas disease for DLD Gene

lactate acidosis,congenital,with elevated branched chain aminoacids presenting as Leigh syndrome characterized by lactate acidosis bilaterally symmetrical necrotic lesions in the brainstem,basal ganglia,thalamus and spinal cord,occuring predominantly in infants

Relevant External Links for DLD

Genetic Association Database (GAD)
DLD
Human Genome Epidemiology (HuGE) Navigator
DLD
genes like me logo Genes that share disorders with DLD: view

Publications for DLD Gene

  1. Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. (PMID: 1332063) Johanning G.L. … Patel M.S. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  2. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (PMID: 8506365) Liu T.-C. … Patel M.S. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23
  3. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (PMID: 9934985) Shaag A. … Elpeleg O.N. (Am. J. Med. Genet. 1999) 3 4 23
  4. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. (PMID: 8406489) Feigenbaum A.S. … Robinson B.H. (Genomics 1993) 3 4 23
  5. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. (PMID: 15946682) Brautigam C.A. … Chuang D.T. (J. Mol. Biol. 2005) 3 4 23

Products for DLD Gene

Sources for DLD Gene

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