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

DLAT Gene

protein-coding   GIFtS: 69
GCID: GC11P111895

Dihydrolipoamide S-Acetyltransferase


(Previous symbol: DLTA)
Microbiology & Infectious Diseases Congress
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at
MalaCards
 

Aliases
for DLAT gene

(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 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


Summaries
for DLAT 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 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 mycobacterium gordonae, and pyruvate dehydrogenase e2 deficiency, and among its related super-pathways are glycolysis and Pyruvate metabolism. GO annotations related to this gene include dihydrolipoyllysine-residue acetyltransferase activity and protein binding. An important paralog of this gene is PDHX.

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


Genomic Views
for DLAT 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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences 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 plasmid: DLAT promoter sequence
   Search SABiosciences Chromatin IP Primers for DLAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DLAT gene

(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: 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
Subcellular location: Mitochondrion matrix
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;
6/10 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10515

    • 4/10 DME Specific Peptides for DLAT (P10515) (see all 10)
     KAREGKL  GTFTISN  AIINPPQ  SKQTIPH 

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

    DLAT Protein Expression
    REFSEQ proteins: NP_001922.2  
    ENSEMBL proteins: 
     ENSP00000280346   ENSP00000435374   ENSP00000376771   ENSP00000433432   ENSP00000442427  
    Reactome Protein details: P10515
    Human Recombinant Protein Products for DLAT: 
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    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 

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

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

    DLAT for ontologies           About GeneDecksing



    DLAT Antibody Products: 
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    Abcam antibodies for DLAT
    Cloud-Clone Corp. Antibodies for DLAT 
    ThermoFisher Antibody for DLAT
    LSBio Antibodies in human, mouse, rat for DLAT 

    Assay Products for DLAT: 
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    Cloud-Clone Corp. ELISAs for DLAT 
    Cloud-Clone Corp. CLIAs for DLAT

    Protein Domains /
    Families
    for DLAT gene

    (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):
     IPR004167 E3-bd
     IPR006257 LAT1
     IPR000089 Biotin_lipoyl
     IPR003016 2-oxoA_DH_lipoyl-BS
     IPR001078 2-oxoacid_DH_actylTfrase

    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


    DLAT for domains           About GeneDecksing


    Function
    for DLAT gene

    (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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004742dihydrolipoyllysine-residue acetyltransferase activity NAS3191998
    GO:0005515protein binding IPI15861126
    GO:0016746transferase activity, transferring acyl groups ----
         
    DLAT for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DLAT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/18 QIAGEN miScript miRNA 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 plasmid: DLAT 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DLAT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLAT

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DLAT
    Sirion Biotech Customized adenovirus for overexpression of DLAT

    Clone
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    OriGene clones in human, mouse for DLAT (see all 7)
    OriGene ORF clones in mouse, rat for DLAT
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    GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
    Sino Biological Human cDNA Clone for DLAT
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT
    Sirion Biotech Customized lentivirus for stable overexpression of DLAT 
                         Customized lentivirus expression plasmids for stable overexpression of DLAT 

    Cell Line
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    Search LifeMap BioReagents cell lines for DLAT
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT


    Pathways & Interactions
    for DLAT gene

    (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 DLAT About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis / Gluconeogenesis0.46
    		Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    2Pyruvate 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
    3Metabolism
    		Metabolism0.40
    		Metabolic pathways0.40
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    5Citric acid cycle (TCA cycle)
    		Citrate cycle (TCA cycle)0.58

    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


    5        Reactome Pathways for DLAT
        Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport
    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


    DLAT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DLAT

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

    5/143 Interacting proteins for DLAT (P105152, 3 ENSP000002803464) via UniProtKB, MINT, STRING, and/or I2D (see all 143)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111772, 3, ENSP000003072414MINT-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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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

    DLAT for ontologies           About GeneDecksing



    Drugs & Compounds
    for DLAT gene

    (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

    DLAT for compounds           About GeneDecksing

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

    Browse Tocris compounds for DLAT (ODP2)

    10/11 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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about DLAT / ODP2

    Transcripts
    for DLAT gene

    (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 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT
    Sirion Biotech Customized lentivirus for stable overexpression of DLAT 
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DLAT
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/261 AceView cDNA sequences (see all 261):

    BG261347 BM840376 AI799356 BU679072 AI452538 AA400968 BF725774 AK057299 
    AI969624 BM991840 BF971921 BQ187728 CA844366 AI740632 BF939962 AI570903 
    AA457372 AW188637 AI472203 CA313259 BM966823 BM541380 BU508456 CA844364 

    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

    Expression
    for DLAT 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

    DLAT expression in normal human tissues (normalized intensities)      DLAT embryonic expression: see
    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 
     5/28 selected tissues (see all 28) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium
             esophagus ; squamous epithelial cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   

    See DLAT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLAT

    SOURCE GeneReport for Unigene cluster: Hs.335551
        SABiosciences Expression via Pathway-Focused PCR Arrays including DLAT: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:    		OriGene qPCR primer pairs and template standards for DLAT
    OriGene qSTAR qPCR primer pairs in human, mouse for DLAT
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLAT
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT

    Orthologs
    for DLAT 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 common ancestor of eukaryotes.

    Orthologs for DLAT gene from 10/27 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 72.58(n)
    78.12(a)    		   419796  XM_417933.3  XP_417933.2 
    lizard
    (Anolis carolinensis)    		 Reptilia DLAT6
    		 Uncharacterized protein
    		 70(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
    56.46(n)1
    55.37(a)1    		   27F63
    340211  NM_135274.21  NP_609118.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F23B12.53
    dlat-11    		 dihyrolipoamide acetyltransferase
    component (pyruvate more3
    Protein DLAT-11    		 53(a)
    (best of 2)3
    55.83(n)1
    55.9(a)1    		   V(14448187-14449885)3
    1799451  NM_074178.51  NP_506579.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes LAT1(YNL071W)4
    LAT11    		 Dihydrolipoamide acetyltransferase component (E2) of more4
    Lat1p1    		 52.38(n)1
    47(a)1    		   14(491523-492971)4
    8556531, 4  NP_014328.31  NP_014328.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G542201 dihydrolipoyllysine-residue acetyltransferase component more 53.98(n)
    49.65(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
    for DLAT gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLAT gene
    PDHX2  DBT2  
    1 SIMAP similar gene for DLAT using alignment to 6 protein entries:     ODP2_HUMAN     E9PKC7_HUMAN     F5H7M3_HUMAN     Q86YI5_HUMAN     E9PEJ4_HUMAN     H0YDD4_HUMAN(see first protein):
    PDHX

    DLAT for paralogs           About GeneDecksing



    Genomic Variants
    for DLAT gene

    (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

    10/840 SNPs in DLAT are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DLAT
    DNA2.0 Custom Variant and Variant Library Synthesis for DLAT

    Disorders / Diseases
    for DLAT gene

    (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: 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

    • 20/25 diseases for DLAT (see all 25):    About MalaCards
    mycobacterium gordonae    pyruvate dehydrogenase e2 deficiency    dihydrolipoamide acetyltransferase deficiency    primary biliary cirrhosis
    ulnar neuropathy    lipoamide dehydrogenase deficiency    pyruvate decarboxylase deficiency    lactic acidosis
    liver disease    cholangitis    autoimmune hepatitis    sjogren's syndrome
    hematopoietic stem cell transplantation    vaginitis    epididymitis    hypotonia
    hepatitis c    dilated cardiomyopathy    hepatitis    myopathy

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

    DLAT for disorders           About GeneDecksing

    10/12 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

    Publications
    for DLAT 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 DLAT gene, integrated from 9 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. (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. (2005)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    5. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)
    6. A genetic association study of maternal and fetal can didate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (2010)
    7. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (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. (2005)
    9. Three-dimensional structure of the major autoantigen in primary biliary cirrhosis. (PubMed id 9649469)1, 2 Howard M.J.... Yeaman S.J. (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. (1993)

    External Searches for DLAT 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 DLAT gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1737 HGNC: 2896 AceView: DLAT Ensembl:ENSG00000150768 euGenes: HUgn1737
    ECgene: DLAT Kegg: 1737 H-InvDB: DLAT

    Other Databases showing DLAT gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DLAT 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 DLAT Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DLAT gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for DLAT gene

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    About This Section

     
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