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DLAT Gene

protein-coding   GIFtS: 69
GCID: GC11P111895

Dihydrolipoamide S-Acetyltransferase


(Previous symbol: DLTA)
  See DLAT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dihydrolipoamide S-Acetyltransferase1 2     PBC2 3
DLTA1 2 3     PDC-E22 3
PDCE22 3 5     M2 Antigen Complex 70 KDa Subunit2 3
E2 Component Of Pyruvate Dehydrogenase Complex1 2     EC 2.3.1.123 8
Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase
Complex2 3
     Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate
Dehydrogenase Complex Mitochondrial2
Pyruvate Dehydrogenase Complex Component E22 3     Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate
Dehydrogenase Complex, Mitochondrial2
70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis2 3     EC 2.3.18

External Ids:    HGNC: 28961   Entrez Gene: 17372   Ensembl: ENSG000001507687   OMIM: 6087705   UniProtKB: P105153   

Export aliases for DLAT gene to outside databases

Previous GC identifers: GC11P114248 GC11P113407 GC11P111929 GC11P111433 GC11P111401 GC11P107819


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DLAT Gene:
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner
mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this
gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of
pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for
antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune
liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial
cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to
cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency
which causes primary lactic acidosis in infancy and early childhood.(provided by RefSeq, Oct 2009)

GeneCards Summary for DLAT Gene:
DLAT (dihydrolipoamide S-acetyltransferase) is a protein-coding gene. Diseases associated with DLAT include pyruvate dehydrogenase e2 deficiency, and mycobacterium gordonae. GO annotations related to this gene include dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is DLST.

UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515
Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
and thereby links the glycolytic pathway to the tricarboxylic cycle

Gene Wiki entry for DLAT (Dihydrolipoyl transacetylase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the DLAT gene promoter:
         Max1   SREBP-1c   MyoD   CBF-C   Evi-1   SREBP-1b   SREBP-1a   CBF-B   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDLAT promoter sequence
   Search Chromatin IP Primers for DLAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLAT


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111895:  view genomic region     (about GC identifiers)

Start:
111,895,538 bp from pter      End:
111,935,114 bp from pter
Size:
39,577 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515 (See protein sequence)
Recommended Name: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex,
mitochondrial precursor  
Size: 647 amino acids; 68997 Da
Cofactor: Binds 2 lipoyl cofactors covalently
Subunit: Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate
dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These
subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules. Interacts with PDK2 and PDK3
Sequence caution: Sequence=AAA62253.1; Type=Frameshift; Positions=449, 451, 455; Sequence=AAA62253.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
Selected PDB 3D structures from and Proteopedia for DLAT (see all 10):
1FYC (3D)        1Y8N (3D)        1Y8O (3D)        1Y8P (3D)        2DNE (3D)        2PNR (3D)    
Secondary accessions: Q16783 Q53EP3

Explore the universe of human proteins at neXtProt for DLAT: NX_P10515

Explore proteomics data for DLAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DLAT (P10515) (see all 10)
     KAREGKL  GTFTISN  AIINPPQ  SKQTIPH 


    See DLAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001922.2  
    ENSEMBL proteins: 
     ENSP00000280346   ENSP00000435374   ENSP00000376771   ENSP00000433432   ENSP00000442427  
    Reactome Protein details: P10515

    DLAT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for DLAT
    OriGene Protein Over-expression Lysate for DLAT
    OriGene MassSpec for DLAT
    OriGene Custom Protein Services for DLAT
    GenScript Custom Purified and Recombinant Proteins Services for DLAT
    Novus Biologicals DLAT Protein
    Novus Biologicals DLAT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for DLAT
    Cloud-Clone Corp. Proteins for DLAT

     
    Search eBioscience for Proteins for DLAT 

     
    antibodies-online proteins for DLAT (9 products) 

     
    antibodies-online peptides for DLAT

    DLAT Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for DLAT 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DLAT
    Novus Biologicals DLAT Antibodies
    Abcam antibodies for DLAT (P10515, O00330)
    Cloud-Clone Corp. Antibodies for DLAT
    ThermoFisher Antibody for DLAT
    LSBio Antibodies in human, mouse, rat for DLAT
    antibodies-online antibodies for DLAT (28 products) 

    DLAT Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DLAT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DLAT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DLAT
    Cloud-Clone Corp. CLIAs for DLAT
    Search eBioscience for ELISAs for DLAT 
    antibodies-online kits for DLAT (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    7 InterPro protein domains (see first 5):
     IPR004167 E3-bd
     IPR006257 LAT1
     IPR000089 Biotin_lipoyl
     IPR003016 2-oxoA_DH_lipoyl-BS
     IPR001078 2-oxoacid_DH_actylTfrase
     IPR023213 CAT-like_dom
     IPR011053 Single_hybrid_motif

    Graphical View of Domain Structure for InterPro Entry P10515

    ProtoNet protein and cluster: P10515

    4 Blocks protein domains:
    IPB000089 Biotin/lipoyl attachment
    IPB001078 Catalytic domain of components of various dehydrogenase complexes
    IPB003016 2-oxo acid dehydrogenase
    IPB004167 E3 binding domain


    UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515
    Similarity: Belongs to the 2-oxoacid dehydrogenase family
    Similarity: Contains 2 lipoyl-binding domains


    Find genes that share domains with DLAT           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ODP2_HUMAN, P10515
    Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2),
    and thereby links the glycolytic pathway to the tricarboxylic cycle
    Catalytic activity: Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme
    N(6)-(S-acetyldihydrolipoyl)lysine

         Enzyme Numbers (IUBMB): EC 2.3.1.121 2 EC 2.3.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004742dihydrolipoyllysine-residue acetyltransferase activity NAS3191998
    GO:0005515protein binding IPI15861126
    GO:0016746transferase activity, transferring acyl groups ----
         
    Find genes that share ontologies with DLAT           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for DLAT:
     Synthetic lethal with imatinib  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLAT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DLAT

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target DLAT:
    hsa-mir-615-3p (MIRT040451), hsa-let-7b-5p (MIRT032242), hsa-mir-10b-5p (MIRT047485)

    Block miRNA regulation of human, mouse, rat DLAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLAT (see all 18):
    hsa-miR-623 hsa-miR-376b hsa-miR-1271 hsa-miR-378b hsa-miR-378 hsa-miR-96 hsa-miR-365 hsa-miR-222*
    SwitchGear 3'UTR luciferase reporter plasmidDLAT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DLAT
    Predesigned siRNA for gene silencing in human, mouse, rat DLAT

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

    Clone
    Products:
         
    OriGene clones in human, mouse for DLAT (see all 6)
    OriGene ORF clones in mouse, rat for DLAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
    Sino Biological Human cDNA Clone for DLAT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for DLAT
    Browse ESI BIO Cell Lines and PureStem Progenitors for DLAT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-12741) for DLAT 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ODP2_HUMAN, P10515: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005967mitochondrial pyruvate dehydrogenase complex NAS3191998
    GO:0045254pyruvate dehydrogenase complex ----

    Find genes that share ontologies with DLAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DLAT About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citrate cycle (TCA cycle)0.55
    pyruvate decarboxylation to acetyl CoA0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.00
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Pyruvate metabolism0.00
    2Glycolysis and gluconeogenesis short map
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with DLAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DLAT
        Glucose / Energy Metabolism

    3 BioSystems Pathways for DLAT
        pyruvate decarboxylation to acetyl CoA
    Glycolysis and Gluconeogenesis
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    2 Reactome Pathways for DLAT
        Pyruvate metabolism
    Regulation of pyruvate dehydrogenase (PDH) complex


    5 Kegg Pathways  (Kegg details for DLAT):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    Carbon metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DLAT: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DLAT

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

    Selected Interacting proteins for DLAT (P105151, 2, 3 ENSP000002803464) via UniProtKB, MINT, STRING, and/or I2D (see all 171)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111771, 2, 3, ENSP000003072414EBI-2959723,EBI-1035872 MINT-6174630 MINT-6174675 MINT-6174645 MINT-6174707 MINT-6174602 MINT-6174660 MINT-6174689 I2D: score=8 STRING: ENSP00000307241
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process IEA--
    GO:0006085acetyl-CoA biosynthetic process ----
    GO:0006090pyruvate metabolic process TAS--
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0008152metabolic process ----

    Find genes that share ontologies with DLAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DLAT (ODP2)

    Selected HMDB Compounds for DLAT (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-ketoisovaleric acid2-Ketoisovalerate (see all 45)759-05-76822537
    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--
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--
    S-Acetyldihydrolipoamide6-S-Acetyldihydrolipoamide (see all 5)----

    3 DrugBank Compounds for DLAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 16368957
    Dihydrolipoic Acid-- 462-20-4target--10592235
    Radicicol-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for DLAT gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-oxo acid 95.1 37 9594621 (2), 9141421 (1), 10484012 (1), 10807519 (1) (see all 23)
    dihydrolipoamide 92.8 38 9620315 (3), 7890655 (2), 1370237 (2), 16049940 (2) (see all 24)
    pyruvate 91.8 200 7519986 (5), 14638692 (4), 7927255 (3), 7822313 (3) (see all 99)
    alpha lipoic acid 80.6 27 19003917 (5), 7519986 (2), 7821922 (1), 9089910 (1) (see all 15)
    alpha-ketoglutarate 75.6 20 9141421 (1), 10484012 (1), 12734383 (1), 2243228 (1) (see all 14)
    acetyl-coa 57.1 8 8557670 (3), 18184588 (1), 12411477 (1), 15491151 (1) (see all 5)
    amino acid 36.7 2 7521314 (1)
    nadh 21.6 5 8557670 (2), 15491151 (1), 18627174 (1)
    adp 19 2 10748134 (1), 12816949 (1)
    lysine 19 11 15558739 (3), 1701753 (2), 18563844 (1), 10209517 (1) (see all 5)



    Find genes that share compounds with DLAT           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DLAT gene: 
    NM_001931.4  

    Unigene Cluster for DLAT:

    Dihydrolipoamide S-acetyltransferase
    Hs.335551  [show with all ESTs]
    Unigene Representative Sequence: NM_001931
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280346(uc001pmo.3 uc010rwr.2 uc021qqn.1) ENST00000533297
    ENST00000393051 ENST00000531306 ENST00000527231 ENST00000537636
    miRNA
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    Block miRNA regulation of human, mouse, rat DLAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLAT (see all 18):
    hsa-miR-623 hsa-miR-376b hsa-miR-1271 hsa-miR-378b hsa-miR-378 hsa-miR-96 hsa-miR-365 hsa-miR-222*
    SwitchGear 3'UTR luciferase reporter plasmidDLAT 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DLAT
    Predesigned siRNA for gene silencing in human, mouse, rat DLAT
    Clone
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    OriGene clones in human, mouse for DLAT (see all 6)
    OriGene ORF clones in mouse, rat for DLAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DLAT
    OriGene qSTAR qPCR primer pairs in human, mouse for DLAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLAT
      QuantiTect SYBR Green Assays in human, mouse, rat DLAT
      QuantiFast Probe-based Assays in human, mouse, rat DLAT
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-12741) for DLAT 

    Additional mRNA sequence: 

    AF317200.1 AK057299.1 AK223596.1 AK296274.1 AK297103.1 AK303930.1 AL832703.1 BC039084.1 
    X13822.1 Y00978.1 

    13 DOTS entries:

    DT.75168175  DT.95378651  DT.100721475  DT.95167732  DT.217357  DT.100793562  DT.120733901  DT.92438859 
    DT.453367  DT.100793560  DT.100793558  DT.100793563  DT.92058549 

    Selected AceView cDNA sequences (see all 261):

    AL559500 BM541380 AA281656 AI472203 AA400968 BG261347 BM840376 BU679072 
    AA457372 BQ184815 AI969624 CR613534 BM991840 AA641655 CK823259 AI799356 
    BM966823 AI452538 BU508456 AL559499 BF939962 CK823258 AK057299 CA844366 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DLAT    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                                      
    SP2:                                      -     -                                                         
    SP3:                                -     -     -     -     -     -     -     -     -                     
    SP4:                                                                                                      


    ECgene alternative splicing isoforms for DLAT

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DLAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DLAT Expression
    About this image


    DLAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DLAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.335551
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DLAT: 
              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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DLAT gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlat1 , 5 dihydrolipoamide S-acetyltransferase (E2 component more1, 5 84.84(n)1
    86.14(a)1
      9 (27.75 cM)5
    2353391  NM_145614.41  NP_663589.31 
     506346335 
    chicken
    (Gallus gallus)
    Aves DLAT1 dihydrolipoamide S-acetyltransferase 72.91(n)
    79(a)
      419796  XM_417933.4  XP_417933.3 
    lizard
    (Anolis carolinensis)
    Reptilia DLAT6
    dihydrolipoamide S-acetyltransferase
    72(a)
    1 ↔ 1
    GL343973.1(87904-106924)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983142 dihydrolipoamide acetyltransferase 75.45(n)    AF430140.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.28102 Danio rerio dihydrolipoamide S-acetyltransferase (dlat) more 77.53(n)    AY188775.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52611 , 3 dihydrolipoamide S-acetyltransferase3
    CG52611
    52(a)3
    56.42(n)1
    54.69(a)1
      27F63
    340211  NM_001273267.11  NP_001260196.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F23B12.53
    dlat-11
    dihyrolipoamide acetyltransferase
    component (pyruvate more3
    dlat-11
    53(a)
    (best of 2)3
    58.91(n)1
    61.05(a)1
      V(14448187-14449885)3
    1799451  NM_074178.61  NP_506579.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAT1(YNL071W)4
    LAT11
    Dihydrolipoamide acetyltransferase component (E2) of more4
    LAT11
    50.65(n)1
    45.98(a)1
      14(491523-492971)4
    8556531, 4  NP_014328.31  NP_014328.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G542201 AT1G54220 53.91(n)
    49.88(a)
      841863  NM_001036109.1  NP_001031186.1 
    rice
    (Oryza sativa)
    Liliopsida AK070846.12   -- 71.7(n)    AK070846.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DLAT gene
    DLST2  DBT2  
    1 SIMAP similar gene for DLAT using alignment to 6 protein entries:     ODP2_HUMAN (see all proteins):
    PDHX

    Find genes that share paralogs with DLAT           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DLAT (see all 840)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs605157361,2
    C--107826426(+) TTTTTTT/-AAGAG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs358229041,2
    C--107832412(+) TTTTTT/-AAGAG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1115259521,2
    C--107839908(+) TTTAGG/TTTGTT 1 -- int10--------
    rs1822201691,2
    --107853244(+) GGAAGA/GGGGGG 1 -- int10--------
    rs1470052781,2
    --111758810(+) CATAAC/TGAAGC 1 -- us2k10--------
    rs1382203351,2
    --111758874(+) AACCTA/GTATCT 1 -- us2k10--------
    rs1908875581,2
    --111759019(+) TGAAAA/CGAAAT 1 -- ut510--------
    rs1148635041,2
    C,F--111759029(+) TCTTTG/ACAACC 1 -- ut511Minor allele frequency- A:0.02WA 118
    rs782985681,2
    C,F--111759068(+) TCCATC/TCCCCT 1 -- ut512Minor allele frequency- T:0.17WA 120
    rs1834569151,2
    C--111759094(+) CAGAGA/GTCACC 1 -- ut510--------

    HapMap Linkage Disequilibrium report for DLAT (111895538 - 111935114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DLAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745077CNV Deletion23290073
    esv2662119CNV Deletion23128226

    Human Gene Mutation Database (HGMD): DLAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLAT
    DNA2.0 Custom Variant and Variant Library Synthesis for DLAT

    (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.)
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    OMIM gene information: 608770   
    OMIM disorders: 245348  
    UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515
  • Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the
    presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of
    intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show
    autoantibodies against the E2 component of pyruvate dehydrogenase complex
  • Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH)
    deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early
    childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other
    more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for DLAT:    
    About MalaCards
    pyruvate dehydrogenase e2 deficiency    mycobacterium gordonae    pyruvate decarboxylase deficiency    vaginitis
    blepharophimosis-ptosis-intellectual disability syndrome    ulnar neuropathy    lactic acidosis    liver disease
    primary biliary cirrhosis

    3 diseases from the University of Copenhagen DISEASES database for DLAT:
    Primary biliary cirrhosis     Pyruvate decarboxylase deficiency     Ulnar neuropathy

    Find genes that share disorders with DLAT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DLAT gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biliary cirrhosis primary 95.1 92 8336525 (4), 7521314 (3), 1714873 (3), 1283300 (2) (see all 59)
    hepatitis autoimmune 61.3 1 17162370 (1)
    cholangitis 57 2 19094117 (1)
    mimicry 56.1 3 11804659 (1), 7519986 (1)
    autoimmune diseases 55.1 4 7543435 (1), 2243228 (1)
    cholangitis primary sclerosing 54.7 3 8514873 (1), 7821922 (1), 17162370 (1)
    liver diseases 52.2 2 11851838 (1), 17068145 (1)
    autoimmunity 49.5 2 14708897 (1), 16792678 (1)
    sjogrens syndrome 13.1 1 9556352 (1)
    hepatitis c chronic 0 2 8726856 (1)

    Genetic Association Database (GAD): DLAT
    Human Genome Epidemiology (HuGE) Navigator: DLAT (5 documents)

    Export disorders for DLAT 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)
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    PubMed articles for DLAT gene, integrated from 10 sources (see all 192):
    (articles sorted by number of sources associating them with DLAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. (PubMed id 14638692)1, 2, 9 Hiromasa Y.... Roche T.E. (J. Biol. Chem. 2004)
    2. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PubMed id 16049940)1, 2, 9 Head R.A.... Brown G.K. (Ann. Neurol. 2005)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    6. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    7. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    8. Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PubMed id 15861126)1, 2 Kato M.... Chuang D.T. (EMBO J. 2005)
    9. Three-dimensional structure of the major autoantigen in primary biliary cirrhosis. (PubMed id 9649469)1, 2 Howard M.J.... Yeaman S.J. (Gastroenterology 1998)
    10. Chromosome localization and RFLP analysis of PDC-E2: the major autoantigen of primary biliary cirrhosis. (PubMed id 8102256)1, 3 Leung P.S....Gershwin M.E. (Autoimmunity 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1737 HGNC: 2896 AceView: DLAT Ensembl:ENSG00000150768 euGenes: HUgn1737
    ECgene: DLAT Kegg: 1737 H-InvDB: DLAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DLAT Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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