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

DLD Gene

protein-coding   GIFtS: 70
GCID: GC07P107531

Dihydrolipoamide Dehydrogenase

(Previous names: dihydrolipoamide dehydrogenase (E3 component of pyruvate...)
(Previous symbols: LAD, GCSL)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dihydrolipoamide Dehydrogenase1 2 3     DLDH2
LAD1 2 3 5     E32
GCSL1 2 3     diaphorase2
PHE32 3 5     Dihydrolipoyl Dehydrogenase, Mitochondrial2
Glycine Cleavage System L Protein2 3     E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex,
Branched Chain Keto Acid Dehydrogenase Complex2
EC 1.8.1.43 8     Glycine Cleavage System Protein L2
2-Oxo-Glutarate Complex1     Lipoamide Dehydrogenase2
Branched Chain Keto Acid Dehydrogenase Complex1     Lipoamide Reductase2
Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase
Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase
Complex)1
     Lipoyl Dehydrogenase2
E3 Component Of Pyruvate Dehydrogenase Complex1     EC 1.8.18
DLDD2     

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


(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 Gene:
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)

GeneCards Summary for DLD Gene: 
DLD (dihydrolipoamide dehydrogenase) is a protein-coding gene. Diseases associated with DLD include dihydrolipoamide dehydrogenase deficiency, and lipoamide dehydrogenase deficiency, and among its related super-pathways are Citric acid cycle (TCA cycle) and valine degradation I. GO annotations related to this gene include dihydrolipoyl dehydrogenase activity and flavin adenine dinucleotide binding.

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) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for DLD at MOPED 

Post-translational modifications:

  • UniProtKB: Tyrosine phosphorylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09622

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

    DLD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DLD Protein Expression
    REFSEQ proteins: NP_000099.2  
    ENSEMBL proteins: 
     ENSP00000205402   ENSP00000402593   ENSP00000390667   ENSP00000417016   ENSP00000387542  
     ENSP00000409590   ENSP00000388077   ENSP00000442399  
    Reactome Protein details: P09622
    Human Recombinant Protein Products for DLD: 
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    Novus Biologicals DLD Proteins
    Novus Biologicals DLD Lysate
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    ProSpec Recombinant Protein for DLD
    Cloud-Clone Corp. Proteins for DLD 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005929cilium IEA--

    DLD for ontologies           About GeneDecksing



    DLD Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR013027 FAD_pyr_nucl-diS_OxRdtase
     IPR006258 Lipoamide_DH
     IPR012999 Pyr_OxRdtase_I_AS
     IPR004099 Pyr_nucl-diS_OxRdtase_dimer
     IPR016156 FAD/NAD-linked_Rdtase_dimer

    Graphical View of Domain Structure for InterPro Entry P09622

    ProtoNet protein and cluster: P09622

    3 Blocks protein domains:
    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


    DLD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004148dihydrolipoyl dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    DLD for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dld):
     embryogenesis  growth/size  mortality/aging 

    DLD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dldtm1Ptl for DLD

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DLD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DLD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLD 

    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 plasmidDLD 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DLD About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Branched-chain amino acid catabolism
    valine degradation I0.53
    Branched-chain amino acid catabolism0.50
    isoleucine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    3Glycolysis and gluconeogenesis (short map)
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    4Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    pyruvate decarboxylation to acetyl CoA0.31
    5Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/13 BioSystems Pathways for DLD (see all 13)
        TCA Cycle
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA
    isoleucine degradation I
    pyruvate decarboxylation to acetyl CoA
    Glycolysis and Gluconeogenesis


    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


    5/7         Kegg Pathways  (Kegg details for DLD) (see all 7):
        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)

    5/380 Interacting proteins for DLD (P096222, 3 ENSP000002054024) via UniProtKB, MINT, STRING, and/or I2D (see all 380)
    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 
    ENSG00000096150P622693I2D: score=1 
    ENSG00000223367P622693I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process TAS--
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006120mitochondrial electron transport, NADH to ubiquinone IEA--
    GO:0006508proteolysis IEA--
    GO:0006554lysine catabolic process TAS--

    DLD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (DLDH)

    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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    AA366913 BU191881 CD516416 CK001172 CB158218 BQ716574 AA939188 AW237581 
    CR625204 BQ774928 AU130545 BX447795 BP341041 AI143302 BM801157 BM472496 
    CA393802 AI090941 AW029390 BM464989 BP341451 BM550034 BM749634 AA418313 

    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

    (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)      DLD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGAGCTA
    DLD Expression
    About this image


    DLD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

    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

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    (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 common ancestor of eukaryotes.

    Orthologs for DLD gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dld1 , 5 dihydrolipoamide dehydrogenase1, 5 90.57(n)1
    94.89(a)1
      12 (13.43 cM)5
    133821  NM_007861.41  NP_031887.21 
     313315645 
    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
    Uncharacterized protein
    85(a)
    1 ↔ 1
    5(97771705-97793169)
    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 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLD gene
    3 SIMAP similar genes for DLD using alignment to 7 protein entries:     DLDH_HUMAN (see all proteins):
    GSR    TXNRD1    TXNRD2

    DLD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/773 SNPs in DLD are shown (see all 773)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219649901,2
    Cpathogenic1110914844(+) TGCAGG/TGTTCA 2 G C mis11Minor allele frequency- T:0.00NA 4546
    rs1219649921,2
    Cpathogenic1110916687(+) GTGTTG/AAAGGA 2 /K /E mis11Minor allele frequency- A:0.00EU 1323
    VAR_0158204
    ----see VAR_0158202 G C mis40--------
    VAR_0069074
    ----see VAR_0069072 K E mis40--------
    VAR_0158214
    ----see VAR_0158212 R G mis40--------
    VAR_0069084
    ----see VAR_0069082 P L mis40--------
    rs1137740701,2
    C--106894103(+) AGAGC-/TTTA/ 
    TTTATTTA
    TTTAT
    1 -- int11CSA 2
    rs344681751,2
    C--106910236(+) GTCTC-/AAAAAA 1 -- int10--------
    rs113732141,2
    C--107531832(+) GGAGGC/-CGGGC 1 -- int13Minor allele frequency- -:0.00NA CSA 6
    rs719505411,2
    C--107532977(+) TTTAT-/TTTA  
            
    TTATT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for DLD (107531415 - 107572175 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DLD:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv34192CNV Loss18971310
    nsv831088CNV Loss17160897
    esv259654OTHER Complex20981092


    Human Gene Mutation Database (HGMD): DLD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DLD
    DNA2.0 Custom Variant and Variant Library Synthesis for DLD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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
  • Maple syrup urine disease (MSUD) [MIM:248600]: A metabolic disorder due to an enzyme defect in the
    catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3
    amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration.
    Clinical features include 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. If untreated, maple syrup urine
    disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and
    symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after
    birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but
    they still involve developmental delay and other medical problems if not treated. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/30 diseases for DLD (see all 30):    About MalaCards
    dihydrolipoamide dehydrogenase deficiency    lipoamide dehydrogenase deficiency    maple syrup urine disease type 3    pyruvate dehydrogenase e3 deficiency
    alpha-ketoglutarate dehydrogenase deficiency    maple syrup urine disease    e3-binding protein deficiency    pyruvate decarboxylase deficiency
    lactic acidosis    mitochondrial dna deletion syndromes    pearson syndrome    mitochondrial dna-associated leigh syndrome and narp
    metabolic acidosis    friedreich ataxia    microcephaly    primary biliary cirrhosis
    mitochondrial disorders    myocarditis    protein s deficiency    hypoglycemia

    3 diseases from the University of Copenhagen DISEASES database for DLD:
    Maple syrup urine disease     Lactic acidosis     Cutaneous anthrax

    DLD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred 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

    (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 155):
    (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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    9. Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Weersma R.K. (2010)
    10. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PubMed id 19122664)1, 4 Silverberg M.S....Duerr R.H. (2009)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



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