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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DLD Gene

protein-coding   GIFtS: 66
GCID: GC07P107531

dihydrolipoamide dehydrogenase

(Previous names: dihydrolipoamide dehydrogenase (E3 component of pyruvate...)
(Previous symbols: LAD, GCSL)
 Explore 24 diseases affiliated with
DLD via
MalaCards
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 Human Malady Compendium 
Biological research products
for DLD    

Aliases
for DLD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dihydrolipoamide Dehydrogenase1 2 3     Diaphorase1
LAD1 2 3 5     Dihydrolipoyl Dehydrogenase, Mitochondrial2
GCSL1 2 3     E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex,
Branched Chain Keto Acid Dehydrogenase Complex2
PHE32 3 5     Glycine Cleavage System Protein L2
DLDH1 2     Lipoamide Dehydrogenase2
Glycine Cleavage System L Protein2 3     Lipoamide Reductase2
EC 1.8.1.43 8     Lipoyl Dehydrogenase2
Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase Complex,
2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex)1
     EC 1.8.18
E32     

External Ids:    HGNC: 28981   Entrez Gene: 17382   Ensembl: ENSG000000911407   OMIM: 2383315   UniProtKB: P096223   

Export aliases for DLD gene to outside databases

Previous GC identifers: GC07P106015 GC07P107078 GC07P107092 GC07P107125 GC07P107318 GC07P101894


Summaries
for DLD gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DLD:
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named
dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate
dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been
identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. (provided
by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622
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

Gene Wiki entry for DLD (Dihydrolipoamide dehydrogenase)


Genomic Views
for DLD gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DLD gene promoter:
         AP-1   ATF-2   NF-AT   E47   CP2   Hand1   c-Jun   TGIF   NF-AT1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): DLD promoter sequence
   Search SABiosciences Chromatin IP Primers for DLD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31-q32   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31-q32

DLD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLD gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P107531:  view genomic region     (about GC identifiers)

Start:
 107,531,415 bp from pter      End:
 107,572,175 bp from pter
Size:
 40,761 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 106,892,712-106,922,768     

Proteins
for DLD gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622 (See protein sequence)
Recommended Name: Dihydrolipoyl dehydrogenase, mitochondrial precursor  
Size: 509 amino acids; 54177 Da
Cofactor: Binds 1 FAD per subunit (By similarity)
Subunit: 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
Subcellular location: Mitochondrion matrix
Miscellaneous: The active site is a redox-active disulfide bond
Sequence caution: Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for DLD:
1ZMC (3D)        1ZMD (3D)        1ZY8 (3D)        2F5Z (3D)        3RNM (3D)    
Secondary accessions: B2R5X0 Q14131 Q14167 Q59EV8 Q8WTS4

Explore the universe of human proteins at neXtProt for DLD: NX_P09622

Post-translational modifications:

  • Tyrosine phosphorylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P09622

    • 4/22 DME Specific Peptides for DLD (P09622) (see all 22)
     HPTLSEA  PGITIDE  GPGGYVA  VIYTHPE 

    DLD Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000099.2  
    ENSEMBL proteins: 
     ENSP00000205402   ENSP00000402593   ENSP00000390667   ENSP00000417016   ENSP00000387542  
     ENSP00000400633   ENSP00000409590   ENSP00000388077   ENSP00000442399  
    Reactome Protein details: P09622
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: DLD
    OriGene Protein Over-expression Lysate: DLD
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    Novus Biologicals DLD Proteins
    Novus Biologicals DLD Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for DLD
    Uscn Proteins for DLD

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--


    DLD for ontologies           About GeneDecksing



    DLD Antibody Products: 
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    Uscn ELISAs and CLIAs for DLD

    Protein Domains /
    Families
    for DLD gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DLD for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR013027 FAD_pyr_nucl-diS_OxRdtase
     IPR012999 Pyr_OxRdtase_I_AS
     IPR004099 Pyr_nucl-diS_OxRdtase_dimer
     IPR016156 FAD/NAD-linked_Rdtase_dimer
     IPR006258 Lipoamide_DH

    Graphical View of Domain Structure for InterPro Entry P09622

    ProtoNet protein and cluster: P09622

    3 Blocks protein families:
    IPB001100 Pyridine nucleotide-disulphide oxidoreductase
    IPB001327 Pyridine nucleotide-disulphide oxidoreductase
    IPB013027 FAD-dependent pyridine nucleotide reductase signature


    UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622
    Similarity: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family


    Function
    for DLD gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622
    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
    Catalytic activity: Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH

         Genatlas biochemistry entry for DLD:
    dihydrolipoyl dehydrogenase (E3 component of pyruvate,2-oxo-ketoglutarate and branched chain keto acid dehydrogenase
    complexes),inner mitochondrial membrane

    Enzyme Numbers (IUBMB): EC 1.8.1.41 2 EC 1.8.12

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLD
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate DLD (see all 29):
    hsa-miR-4286 hsa-miR-4272 hsa-miR-488 hsa-miR-570 hsa-miR-515-5p hsa-miR-374c hsa-miR-499-5p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: DLD 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLD (see all 7)
    OriGene shRNA RFP: DLD
    OriGene siRNA: DLD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLD

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DLD

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLD (see all 3)
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    GenScript: all cDNA clones in your preferred vector: DLD (NM_000108)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLD 

    Cell Line
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    Search LifeMap BioReagents cell lines for DLD

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004148dihydrolipoyl dehydrogenase activity IEA--
    GO:0043544lipoamide binding ----
    GO:0050660flavin adenine dinucleotide binding IEA--
    GO:0051287NAD binding ----


    DLD for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dldtm1Ptl for DLD
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dld):
     embryogenesis  growth/size  mortality/aging 

    DLD for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DLD gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		isoleucine degradation I0.41
    		valine degradation I0.48
    		Valine, leucine and isoleucine degradation0.39
    2TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    3Pyruvate metabolism
    		Pyruvate metabolism1.00
    		Regulation of pyruvate dehydrogenase (PDH) complex0.60
    4Lysine catabolism
    		Lysine catabolism1.00
    		2-oxoglutarate decarboxylation to succinyl-CoA0.38
    5Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/12 BioSystems Pathways for DLD (see all 12) 
        TCA Cycle
    Fatty Acid Beta Oxidation
    isoleucine degradation I
    TCA cycle II (eukaryotic)
    glycine cleavage

    5/9        Reactome Pathways for DLD (see all 9)
        Pyruvate metabolism
    Lysine catabolism
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport


    5/6         Kegg Pathways  (Kegg details for DLD) (see all 6):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Glycine, serine and threonine metabolism
    Valine, leucine and isoleucine degradation
    Pyruvate metabolism


    DLD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DLD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/362 Interacting proteins for DLD (P096222, 3 ENSP000002054024) via UniProtKB, MINT, STRING, and/or I2D (see all 362)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLDCP233782, 3, ENSP000003707374MINT-8079030 I2D: score=1 STRING: ENSP00000370737
    SUCLA2Q9P2R72, 3, ENSP000003679234MINT-8079030 I2D: score=1 STRING: ENSP00000367923
    KARSQ150462, 3MINT-8079030 I2D: score=1 
    HSPD1P108092, 3, ENSP000003400194MINT-8079030 I2D: score=1 STRING: ENSP00000340019
    DLSTP369573, ENSP000003353044I2D: score=5 STRING: ENSP00000335304
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006086acetyl-CoA biosynthetic process from pyruvate ----
    GO:0006090pyruvate metabolic process TAS--
    GO:0006099tricarboxylic acid cycle TAS--
    GO:00061032-oxoglutarate metabolic process ----
    GO:0006120mitochondrial electron transport, NADH to ubiquinone IEA--


    DLD for ontologies           About GeneDecksing



    Drugs & Compounds
    for DLD gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DLD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DLD

    10/16 HMDB Compounds for DLD (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hydroxybutyric acid(RS)-2-Hydroxybutyrate (see all 29)600-15-76688766
    3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid2-KDN (see all 18)22594-61-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Dihydrolipoamidedihydrolipoamide (see all 6)3884-47-7--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Glutaryl-CoAglutaryl-CoA (see all 2)103192-48-9--
    HypothiocyaniteCyanosulfoxylate;Hypothiocyanite;OSCN-Hypothiocyanite ion;N,6-didehydro-3,6-dihydro-3-methyl-Adenosine 63296-34-4--
    LipoamideLipozyme (see all 25)940-69-2--

    3 DrugBank Compounds for DLD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17314104 17017892 17315258
    Flavin-Adenine Dinucleotide-- 146-14-5target--10592235
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235

    10/20 Novoseek chemical compound relationships for DLD gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrolipoamide 98.6 193 14645106 (6), 8894701 (6), 1541297 (5), 15888450 (5) (see all 80)
    lipoamide 90.4 12 9934985 (1), 10806385 (1), 11368334 (1), 18362926 (1) (see all 11)
    pyruvate 82.1 63 18362926 (2), 15712224 (2), 16442803 (2), 20385101 (2) (see all 27)
    alpha-ketoglutarate 78 24 8619544 (2), 8731379 (2), 12464489 (1), 16045627 (1) (see all 10)
    2-oxo acid 76 6 10806385 (1), 1959888 (1), 9278141 (1), 7674838 (1)
    alpha lipoic acid 71.1 10 7669066 (2), 11368334 (1), 19393031 (1), 10218658 (1)
    nad+ 61.3 6 8289259 (1), 2033038 (1), 10336857 (1), 15946682 (1) (see all 5)
    nadh 53.2 3 11316579 (1), 10193578 (1), 15946682 (1)
    lactate 26.6 9 17160884 (2), 8289259 (1), 8968745 (1), 16233312 (1) (see all 5)
    peroxynitrite 15.4 1 16045627 (1)

    Search CenterWatch for drugs/clinical trials and news about DLD / DLDH 

    Transcripts
    for DLD gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DLD gene: 
    NM_000108.3  

    Unigene Cluster for DLD:

    Dihydrolipoamide dehydrogenase
    Hs.131711  [show with all ESTs]
    Unigene Representative Sequence: NM_000108
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000205402(uc010ljm.1 uc003vet.3 uc011kmg.2 uc011kmh.2 uc011kmi.2)
    ENST00000485066 ENST00000415325 ENST00000417551 ENST00000440410 ENST00000437604
    ENST00000453354 ENST00000450038 ENST00000451081 ENST00000460577 ENST00000494441
    ENST00000478414 ENST00000489184 ENST00000537148

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate DLD (see all 29):
    hsa-miR-4286 hsa-miR-4272 hsa-miR-488 hsa-miR-570 hsa-miR-515-5p hsa-miR-374c hsa-miR-499-5p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: DLD 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLD (see all 7)
    OriGene shRNA RFP: DLD
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLD 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLD

    Additional cDNA sequence: 

    AB209703.1 AK225289.1 AK225301.1 AK294146.1 AK295080.1 AK297508.1 AK300077.1 AK310220.1 
    AK312346.1 BC018648.2 BC018696.2 J03490.1 J03620.1 

    18 DOTS entries:

    DT.218690  DT.97797315  DT.100845548  DT.75170598  DT.100845544  DT.100845543  DT.210154  DT.121075590 
    DT.121075600  DT.206518  DT.121075585  DT.95305202  DT.100758912  DT.121075584  DT.121075588  DT.121075591 
    DT.121075616  DT.95305240 

    24/409 AceView cDNA sequences (see all 409):

    CA390328 AW029390 BM966773 AA939188 AI090941 BP343644 CR625204 BP341041 
    AA418313 CB158933 BM464989 BE265772 BP341451 BM551734 CB136179 AV707522 
    CD516416 BM800726 BQ929216 AI129544 BM874612 AU120894 BX447795 BU191881 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for DLD (see all 8)    About this scheme

    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:                                                              -     -                                                                                       


    ECgene alternative splicing isoforms for DLD

    Expression
    for DLD gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DLD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTGGAGCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DLD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLD

    SOURCE GeneReport for Unigene cluster: Hs.131711
        SABiosciences Expression via Pathway-Focused PCR Arrays including DLD: 
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLD
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DLD
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLD
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLD
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD

    Orthologs
    for DLD gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for DLD gene from 10/45 species (see all 45)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DLD1 dihydrolipoamide dehydrogenase 80.31(n)
    89.57(a)    		   417699  NM_001030727.1  NP_001025898.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DLD6
    		 --
    		 86(a)
    		 1 ↔ 1
    		 5(97771705-97793161)
    African clawed frog
    (Xenopus laevis)    		 Amphibia dld-prov2 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) less 78.55(n)    BC056016.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.10512 Danio rerio mRNA similar to dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) (cDNA clone MGC55583 IMAGE2643379), complete cds less 77.32(n)    BC044432.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG74301 , 3 dihydrolipoamide dehydrogenase3
    CG74301    		 67(a)3
    60.05(n)1
    68.92(a)1    		   75A63
    399881  NM_140760.21  NP_649017.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea LLC1.33
    dld-11    		 dihydrolipoamide dehydrogenase3
    Protein DLD-11    		 66(a)3
    64.66(n)1
    73.33(a)1    		   IV(14464583-14465767)3
    1783871  NM_070352.41  NP_502753.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes LPD1(YFL018C)4
    LPD11    		 Dihydrolipoamide dehydrogenase, the lipoamide dehydrogenase component (E3) of the pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multi-enzyme complexes less4
    Lpd1p1    		 60.55(n)1
    58.75(a)1    		   6(103127-101628)4
    8505271, 4  NP_116635.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons mtLPD11 dihydrolipoyl dehydrogenase 1 59.56(n)
    59.56(a)    		   841221  NM_179451.1  NP_849782.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.15062 Oryza sativa (japonica cultivar-group) cDNA cloneJ013072D16, full insert sequence less 73.83(n)    NM_183836.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria lpd6
    sthA6
    		 pyridine nucleotide transhydrogenase, soluble
    		 41(a)
    26(a)
    		 possible ortholog
    1 ↔ 1
    		 Chromosome(127912-129336)
    Chromosome(4157413-4158813)


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

    Paralogs
    for DLD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for DLD gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/649 NCBI SNPs in DLD are shown (see all 649)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219649901,2
    		Cpathogenic106917076(+) TGCAGG/TGTTCA 2 G C mis11Minor allele frequency- T:0.00NA 4546
    rs1219649921,2
    		Cpathogenic106918919(+) GTGTTG/AAAGGA 2 /K /E mis11Minor allele frequency- A:0.00EU 1323
    rs133103861,2
    		H--101913432(+) TTCCAT/GTCcag 1 -- int14Minor allele frequency- G:0.00NS EA 402
    rs69759441,2
    		C,--106890873(+) tgcagC/Tttcac 1 -- us2k10--------
    rs1113537321,2
    		--106891052(+) GGACAC/TAATAT 1 -- us2k12Minor allele frequency- T:0.10CSA WA 120
    rs768486281,2
    		C,F,--106891166(+) CACTGC/TTAGTG 1 -- us2k13Minor allele frequency- T:0.12CSA WA 122
    rs753628451,2
    		C,--106891217(+) GTGTTC/TGCATT 1 -- us2k12Minor allele frequency- T:0.11CSA WA 120
    rs1180822841,2
    		C,F,--106891914(+) TAATTT/GCTAAC 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs762036931,2
    		F,--106891930(+) TTTAGC/GCCAGC 1 -- us2k11Minor allele frequency- G:0.21WA 118
    rs794995541,2
    		C,--106892170(+) GTGTTC/TTCTAC 1 -- us2k12Minor allele frequency- T:0.11CSA WA 120

    HapMap Linkage Disequilibrium report for DLD (107531415 - 107572175 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DLD
         1 CNV: 48029
    Human Gene Mutation Database (HGMD): DLD

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLD
    DNA2.0 Custom Variant and Variant Library Synthesis for DLD

    Disorders / Diseases
    for DLD gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DLD for disorders           About GeneDecksing

    OMIM gene information: 238331   
    OMIM disorders: 248600  256000  
    UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622
  • Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis
  • Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by mental
    • and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain
    amino acids are present in the urine, resulting from a block in oxidative decarboxylation

    20/24 diseases for DLD (see all 24):    About MalaCards
    maple syrup urine disease    lipoamide dehydrogenase deficiency    alpha-ketoglutarate dehydrogenase deficiency    lactic acidosis
    cutaneous anthrax    primary biliary cirrhosis    pearson syndrome    friedreich ataxia
    spinocerebellar ataxia    leigh disease    microcephaly    ulcerative colitis
    alzheimer's disease    protein s deficiency    hepatitis c    ataxia
    myocarditis    hepatitis    pneumonia    schizophrenia

    8 Novoseek disease relationships for DLD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    primary lactic acidosis 89.5 2 11687750 (1)
    acidosis lactic 61.9 2 11687750 (1), 8652022 (1)
    biliary cirrhosis primary 40 5 7674838 (2), 1959888 (1)
    metabolic acidosis 29.1 2 9540846 (1)
    microcephaly 27.2 2 12925875 (1)
    shock 0 1 18281682 (1)
    hypoglycemia 0 2 12925875 (1)
    alzheimers disease 0 4 17342416 (2), 8619544 (1)

    Genatlas disease: DLD
    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

    Genetic Association Database (GAD): DLD
    Human Genome Epidemiology (HuGE) Navigator: DLD (4 documents)

    Export disorders for DLD gene to outside databases

    Publications
    for DLD gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DLD gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with DLD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PubMed id 16442803)1, 2, 9 Brautigam C.A....Chuang D.T. (2006)
    2. How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PubMed id 16263718)1, 2, 9 Ciszak E.M....Patel M.S. (2006)
    3. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (PubMed id 8506365)1, 2, 9 Liu T.-C.... Patel M.S. (1993)
    4. Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. (PubMed id 1332063)1, 2, 9 Johanning G.L.... Patel M.S. (1992)
    5. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (PubMed id 9934985)1, 2, 9 Shaag A....Elpeleg O.N. (1999)
    6. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. (PubMed id 8406489)1, 2, 9 Feigenbaum A.S. and Robinson B.H. (1993)
    7. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. (PubMed id 15946682)1, 2, 9 Brautigam C.A....Chuang D.T. (2005)
    8. Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population. (PubMed id 15389771)1, 4 Brown A.M....Blass J.P. (2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes. (PubMed id 3278312)1, 2 Pons G.... Patel M.S. (1988)

    External Searches for DLD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DLD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1738 HGNC: 2898 AceView: DLD Ensembl:ENSG00000091140 euGenes: HUgn1738
    ECgene: DLD Kegg: 1738 H-InvDB: DLD

    Other Databases showing DLD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DLD gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DLD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLD

    Intellectual Property
    for DLD gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DLD gene:
    Search GeneIP for patents involving DLD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for DLD gene

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    About This Section

     
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