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. H... See more...

Aliases for DLD Gene

Aliases for DLD Gene

  • Dihydrolipoamide Dehydrogenase 2 3 4 5
  • E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex 2 3
  • Dihydrolipoyl Dehydrogenase, Mitochondrial 3 4
  • Glycine Cleavage System L Protein 3 4
  • EC 1.8.1.4 4 51
  • OGDC-E3 2 3
  • DLDH 2 3
  • GCSL 3 4
  • PHE3 3 4
  • LAD 3 4
  • E3 2 3
  • Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex) 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Glycine Cleavage System Protein L 3
  • Lipoamide Dehydrogenase 3
  • Lipoyl Dehydrogenase 3
  • Lipoamide Reductase 3
  • Diaphorase 3
  • EC 1.8.1 51
  • DLDD 3
  • DLD 5

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 Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Signaling by GPCR and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor. An important paralog of this gene is TXNRD1.

UniProtKB/Swiss-Prot Summary for DLD Gene

  • Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).

Gene Wiki entry for DLD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLD Gene

Genomics for DLD Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around DLD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLD

Top Transcription factor binding sites by QIAGEN in the DLD gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CP2
  • E47
  • Hand1
  • Hlf
  • NF-AT
  • NF-AT1
  • TGIF

Genomic Locations for DLD Gene

Latest Assembly
chr7:107,891,107-107,931,730
(GRCh38/hg38)
Size:
40,624 bases
Orientation:
Plus strand

Previous Assembly
chr7:107,531,552-107,561,643
(GRCh37/hg19 by Entrez Gene)
Size:
30,092 bases
Orientation:
Plus strand

chr7:107,531,415-107,572,175
(GRCh37/hg19 by Ensembl)
Size:
40,761 bases
Orientation:
Plus strand

Genomic View for DLD Gene

Genes around DLD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Homodimer (PubMed:15946682). Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (subunits PDHA (PDHA1 or PDHA2) and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (PubMed:14638692). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules (by non covalent bonds) (PubMed:14638692, PubMed:20361979). The 2-oxoglutarate dehydrogenase complex is composed of OGDH (2-oxoglutarate dehydrogenase; E1), DLST (dihydrolipoamide succinyltransferase; E2) and DLD (dihydrolipoamide dehydrogenase; E3). It contains multiple copies of the three enzymatic components (E1, E2 and E3). In the nucleus, the 2-oxoglutarate dehydrogenase complex associates with KAT2A (PubMed:29211711). Interacts with PDHX (PubMed:20385101, PubMed:16442803, PubMed:20160912, PubMed:20361979).
    SequenceCaution:
    • Sequence=BAD92940.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • The active site is a redox-active disulfide bond.

    Three dimensional structures from OCA and Proteopedia for DLD Gene

    Alternative splice isoforms for DLD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLD Gene

Selected DME Specific Peptides for DLD Gene

P09622:
  • HPTLSEA
  • GKFPFAANSRAKTN
  • PGITIDE
  • GGYVAAI
  • TKNILIATGSEVTPFPG
  • ARVCHAHPT
  • GPMLAHKA
  • AVKALTGGIA
  • GHFNRISHGLQG
  • SDGKIDVS
  • VIYTHPE
  • DRVLGAHI
  • EAASGGKAEVITCDVLLVCIGRRPFT
  • PNIYAIGD
  • GPGGYVA
  • PEVAWVG
  • GATKKSDG
  • GCIPSKAL
  • IKAAQLG
  • QRLGADVTA
  • GRIPVNTRFQTKIPNI
  • CLNVGCIP

Post-translational modifications for DLD Gene

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

Antibodies for research

Domains & Families for DLD Gene

Gene Families for DLD Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DLD Gene

InterPro:
Blocks:
  • Pyridine nucleotide-disulphide oxidoreductase, NAD-binding region
  • Pyridine nucleotide-disulphide oxidoreductase, class I
  • FAD-dependent pyridine nucleotide reductase signature
ProtoNet:

Suggested Antigen Peptide Sequences for DLD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50515, highly similar to Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8.1.4) (B4DHG0_HUMAN)
  • Dihydrolipoyl dehydrogenase (B4DT69_HUMAN)
  • Glycine cleavage system L protein (DLDH_HUMAN)
  • Dihydrolipoyl dehydrogenase (F5H4I0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09622

UniProtKB/Swiss-Prot:

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

Function for DLD Gene

Molecular function for DLD Gene

UniProtKB/Swiss-Prot Function:
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-N(6)-dihydrolipoyl-L-lysyl-[protein] + NAD(+) = (R)-N(6)-lipoyl-L-lysyl-[protein] + H(+) + NADH; Xref=Rhea:RHEA:15045, Rhea:RHEA-COMP:10474, Rhea:RHEA-COMP:10475, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83099, ChEBI:CHEBI:83100; EC=1.8.1.4; Evidence={ECO:0000269|PubMed:15712224, ECO:0000269|PubMed:16442803, ECO:0000269|PubMed:16770810, ECO:0000269|PubMed:17404228, ECO:0000269|PubMed:20160912, ECO:0000269|PubMed:20385101};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Disruption of native heterodimer state inhibits primary dihydrolipoamide dehydrogenase activity and induces serine protease activity.
GENATLAS Biochemistry:
dihydrolipoyl dehydrogenase (E3 component of pyruvate,2-oxo-ketoglutarate and branched chain keto acid dehydrogenase complexes),inner mitochondrial membrane

Enzyme Numbers (IUBMB) for DLD Gene

Phenotypes From GWAS Catalog for DLD Gene

Gene Ontology (GO) - Molecular Function for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004148 dihydrolipoyl dehydrogenase activity TAS,IDA 16442803
GO:0005515 protein binding IPI 16263718
GO:0016491 oxidoreductase activity IEA --
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor IEA --
genes like me logo Genes that share ontologies with DLD: view
genes like me logo Genes that share phenotypes with DLD: view

Human Phenotype Ontology for DLD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLD Gene

MGI Knock Outs for DLD:
  • Dld Dld<tm1Ptl>

miRNA for DLD Gene

miRTarBase miRNAs that target DLD

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLD

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

Localization for DLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLD Gene

Mitochondrion matrix. Nucleus. Cell projection, cilium, flagellum. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation. {ECO:0000269 PubMed:29211711}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLD gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005634 nucleus IEA,IDA 29211711
GO:0005739 mitochondrion TAS,IDA 29211711
GO:0005759 mitochondrial matrix TAS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DLD: view

Pathways & Interactions for DLD Gene

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

Gene Ontology (GO) - Biological Process for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006103 2-oxoglutarate metabolic process IEA --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
genes like me logo Genes that share ontologies with DLD: view

No data available for SIGNOR curated interactions for DLD Gene

Drugs & Compounds for DLD Gene

(26) Drugs for DLD Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma Target 0
Hexachlorophene Approved, Withdrawn Pharma Target, inhibitor 3
Glycine Approved, Vet_approved Nutra Enzyme, substrate 202
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0

(16) Additional Compounds for DLD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydrolipoamide
  • 6,8-Dimercaptooctanamide
  • Dihydrothioctamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-octanamide
  • 6,8-Disulfanyloctanamide
3884-47-7
2-Hydroxybutyric acid
  • (S)-2-Hydroxybutanoic acid
  • 2-Hydroxybutyrate
  • 2-Hydroxybutyric acid
  • L-2-Hydroxybutanoic acid
  • L-2-Hydroxybutyric acid
3347-90-8
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 3-Deoxy-D-glycero-D-galacto-2-nonulosonate
  • 2-KDN
  • 2-Keto-3-deoxy-D-glycero-D-galacto-NONONate
  • 2-Keto-3-deoxy-D-glycero-D-galacto-NONONic acid
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonate
22594-61-2
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
Glutaryl-coa
  • Glutaryl-coenzyme A
103192-48-9

(7) ApexBio Compounds for DLD Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with DLD: view

Drug products for research

Transcripts for DLD Gene

mRNA/cDNA for DLD Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLD

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

Expression for DLD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLD Gene

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

This gene is overexpressed in Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for DLD Gene

This gene is overexpressed in Heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DLD Gene



Protein tissue co-expression partners for DLD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLD

SOURCE GeneReport for Unigene cluster for DLD Gene:

Hs.131711

Evidence on tissue expression from TISSUES for DLD Gene

  • Nervous system(5)
  • Heart(4.8)
  • Liver(4.6)
  • Kidney(3.7)
  • Muscle(3)
  • Intestine(2.9)
  • Blood(2.8)
  • Skin(2.6)
  • Stomach(2.3)
  • Bone marrow(2.1)
  • Lymph node(2.1)
  • Thyroid gland(2.1)
  • Pancreas(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with DLD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DLD 30 31
  • 93.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DLD 30 31
  • 93.32 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DLD 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dld 30
  • 90.7 (n)
Mouse
(Mus musculus)
Mammalia Dld 30 17 31
  • 90.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DLD 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DLD 30 31
  • 80.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DLD 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dld 30
  • 78.59 (n)
Str.1427 30
African clawed frog
(Xenopus laevis)
Amphibia dld-prov 30
Zebrafish
(Danio rerio)
Actinopterygii dldh 30 31
  • 74.13 (n)
OneToOne
Dr.1051 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9547 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7430 30 31 32
  • 60.05 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011629 30
  • 59.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea LLC1.3 32
  • 66 (a)
dld-1 30 31
  • 64.41 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LPD1 30 31 33
  • 60.55 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11154g 30
  • 59.76 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR512W 30
  • 56.2 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons mtLPD2 30
  • 59.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8079 30
Rice
(Oryza sativa)
Liliopsida Os01g0328700 30
  • 57.7 (n)
Os.1506 30
Barley
(Hordeum vulgare)
Liliopsida Hv.901 30
Wheat
(Triticum aestivum)
Liliopsida Ta.6265 30
Corn
(Zea mays)
Liliopsida Zm.8412 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4589 31
  • 73 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dld1 30
  • 60.94 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02407 30
  • 54.47 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9257 30
Species where no ortholog for DLD was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DLD: view image

Paralogs for DLD Gene

Paralogs for DLD Gene

(3) SIMAP similar genes for DLD Gene using alignment to 7 proteins:

  • DLDH_HUMAN
  • B4DHG0_HUMAN
  • B4DT69_HUMAN
  • E9PEX6_HUMAN
  • F2Z2E3_HUMAN
  • F8WDM5_HUMAN
  • F8WDY5_HUMAN
genes like me logo Genes that share paralogs with DLD: view

Variants for DLD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLD Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
837401 Uncertain Significance: Maple syrup urine disease, type 3 107,903,515(+) A/T
NM_000108.5(DLD):c.305A>T (p.His102Leu)
MISSENSE
840283 Likely Pathogenic: Maple syrup urine disease, type 3 107,919,046(+) TTGGAATA/T
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
FRAMESHIFT
854640 Pathogenic: Maple syrup urine disease, type 3 107,916,864(+) C/T
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
NONSENSE
856335 Pathogenic: Maple syrup urine disease, type 3 107,918,024(+) CGACA/C
NM_000108.5(DLD):c.1340_1343CAGA[1] (p.Asp448fs)
FRAMESHIFT
908459 Uncertain Significance: Maple syrup urine disease, type 3; Leigh syndrome; Pyruvate dehydrogenase complex deficiency 107,905,442(+) A/G
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3302680 CNV tandem duplication 20981092
esv3374767 CNV duplication 20981092
esv34192 CNV loss 18971310
nsv471995 CNV novel sequence insertion 20440878
nsv831088 CNV loss 17160897
nsv949927 CNV duplication 24416366

Variation tolerance for DLD Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLD Gene

Human Gene Mutation Database (HGMD)
DLD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLD

SNP Genotyping and Copy Number Assays for research

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

Disorders for DLD Gene

MalaCards: The human disease database

(15) MalaCards diseases for DLD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DLD in MalaCards View complete list of genes associated with diseases

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:10448086, ECO:0000269 PubMed:11687750, ECO:0000269 PubMed:12925875, ECO:0000269 PubMed:15712224, ECO:0000269 PubMed:16442803, ECO:0000269 PubMed:16770810, ECO:0000269 PubMed:17404228, ECO:0000269 PubMed:20160912, ECO:0000269 PubMed:8506365, ECO:0000269 PubMed:8968745, ECO:0000269 PubMed:9540846, ECO:0000269 PubMed:9934985}. Note=The disease is caused by variants affecting the gene represented in this entry.

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

Additional Disease Information for DLD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DLD: view

Publications for DLD Gene

  1. Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. (PMID: 17404228) Babady NE … Isaya G (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23 74
  2. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. (PMID: 15712224) Odièvre MH … Bonnefont JP (Human mutation 2005) 3 4 23 74
  3. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (PMID: 9934985) Shaag A … Elpeleg ON (American journal of medical genetics 1999) 3 4 23 74
  4. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (PMID: 8506365) Liu TC … Patel MS (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 23 74
  5. How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PMID: 16263718) Ciszak EM … Patel MS (The Journal of biological chemistry 2006) 3 4 23

Products for DLD Gene

  • Addgene plasmids for DLD

Sources for DLD Gene