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

PDHX Gene

protein-coding   GIFtS: 67
GCID: GC11P034894

Pyruvate Dehydrogenase Complex, Component X

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Pyruvate Dehydrogenase Complex, Component X1 2     DLDBP2
PDX12 3 5     OPDX2
Dihydrolipoamide Dehydrogenase-Binding Protein Of Pyruvate Dehydrogenase
Complex2 3
     Pyruvate Dehydrogenase Complex, E3-Binding Protein Subunit2
Lipoyl-Containing Pyruvate Dehydrogenase Complex Component X2 3     Pyruvate Dehydrogenase Complex, Lipoyl-Containing Component X2
E3BP2 3     Pyruvate Dehydrogenase Protein X Component, Mitochondrial2
proX2 3     E3-Binding Protein3

External Ids:    HGNC: 213501   Entrez Gene: 80502   Ensembl: ENSG000001104357   OMIM: 6087695   UniProtKB: O003303   

Export aliases for PDHX gene to outside databases

Previous GC identifers: GC11P034977 GC11P034902 GC11P034636


(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 PDHX Gene:
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of
pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains
three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a
non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as
component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH
complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological
dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to
cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct
isoforms.(provided by RefSeq, Oct 2009)

GeneCards Summary for PDHX Gene: 
PDHX (pyruvate dehydrogenase complex, component X) is a protein-coding gene. Diseases associated with PDHX include e3-binding protein deficiency, and ulnar neuropathy, and among its related super-pathways are Metabolic pathways and Pyruvate metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is DBT.

UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330
Function: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2)
core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional
PDH complex

Gene Wiki entry for PDHX (E3 binding protein) 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  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDHX gene promoter:
         ER-alpha   GATA-3   Brachyury   CUTL1   GATA-1   GATA-2   RORalpha1   AREB6   IRF-2   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDHX promoter sequence
   Search SABiosciences Chromatin IP Primers for PDHX

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


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P034894:  view genomic region     (about GC identifiers)

Start:
34,937,376 bp from pter      End:
35,042,138 bp from pter
Size:
104,763 bases      Orientation:
plus strand

(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: ODPX_HUMAN, O00330 (See protein sequence)
Recommended Name: Pyruvate dehydrogenase protein X component, mitochondrial precursor  
Size: 501 amino acids; 54122 Da
Subunit: Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT
and 12 PDHX molecules. This core binds multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide
acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3)
Subcellular location: Mitochondrion matrix
4 PDB 3D structures from and Proteopedia for PDHX:
1ZY8 (3D)        2DNC (3D)        2F5Z (3D)        2F60 (3D)    
Secondary accessions: B4DW62 D3DR11 E9PBP7 O60221 Q96FV8 Q99783
Alternative splicing: 2 isoforms:  O00330-1   O00330-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDHX: NX_O00330

Explore proteomics data for PDHX at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00330

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

    PDHX Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001128496.1  NP_001159630.1  NP_003468.2  

    ENSEMBL proteins: 
     ENSP00000431281   ENSP00000389404   ENSP00000227868   ENSP00000415695   ENSP00000432277  
     ENSP00000433204  
    Reactome Protein details: O00330
    Human Recombinant Protein Products for PDHX: 
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    Cloud-Clone Corp. Proteins for PDHX 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    PDHX for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PDHX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR004167 E3-bd
     IPR000089 Biotin_lipoyl
     IPR003016 2-oxoA_DH_lipoyl-BS
     IPR001078 2-oxoacid_DH_actylTfrase
     IPR023213 CAT-like_dom

    Graphical View of Domain Structure for InterPro Entry O00330

    ProtoNet protein and cluster: O00330

    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: ODPX_HUMAN, O00330
    Similarity: Belongs to the 2-oxoacid dehydrogenase family
    Similarity: Contains 1 lipoyl-binding domain


    PDHX 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: ODPX_HUMAN, O00330
    Function: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2)
    core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional
    PDH complex

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups IEA--
         
    PDHX for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PDHX:
     Increased homologous recombina 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidPDHX 3' UTR sequence
    Inhib. RNA
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    (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 PDHX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Pyruvate metabolism
    Pyruvate metabolism0.60
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Regulation of pyruvate dehydrogenase (PDH) complex0.60
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    4Glycolysis and gluconeogenesis (short map)
    Glycolysis and Gluconeogenesis0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PDHX
        Glycolysis and Gluconeogenesis

    5        Reactome Pathways for PDHX
        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


    1         Kegg Pathway  (Kegg details for PDHX):
        Metabolic pathways


    PDHX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDHX

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

    5/30 Interacting proteins for PDHX (O003302, 3 ENSP000002278684) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLATP105153, ENSP000002803464I2D: score=3 STRING: ENSP00000280346
    PDHBP111773, ENSP000003072414I2D: score=3 STRING: ENSP00000307241
    DLDP096223, ENSP000002054024I2D: score=3 STRING: ENSP00000205402
    PDK2Q151193, ENSP000000077084I2D: score=3 STRING: ENSP00000007708
    EP300Q094723, ENSP000002632534I2D: score=2 STRING: ENSP00000263253
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0010510regulation of acetyl-CoA biosynthetic process from pyruvate TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PDHX 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

    PDHX for compounds           About GeneDecksing

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

    Browse Tocris compounds for PDHX (ODPX)

    1 HMDB Compound for PDHX    About this table
    CompoundSynonyms CAS #PubMed Ids
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--

    7 Novoseek inferred chemical compound relationships for PDHX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrolipoamide 86.3 14 16442803 (2), 10094940 (2), 9242632 (2), 10448433 (1) (see all 6)
    pyruvate 78 35 9242632 (3), 16442803 (2), 16843025 (2), 15303005 (2) (see all 20)
    2-oxo acid 77 5 10385636 (1), 10094940 (1)
    alpha lipoic acid 57.3 4 10094940 (1)
    alpha-ketoglutarate 44.8 3 10385636 (1), 10094940 (1)
    glucose 25.4 13 19833727 (4), 16505238 (1)
    serine 0 1 9242632 (1)

    Search CenterWatch for drugs/clinical trials and news about PDHX / ODPX

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDHX gene (3 alternative transcripts): 
    NM_001135024.1  NM_001166158.1  NM_003477.2  

    Unigene Cluster for PDHX:

    Pyruvate dehydrogenase complex, component X
    Hs.502315  [show with all ESTs]
    Unigene Representative Sequence: NM_003477
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533550 ENST00000448838(uc001mvt.3 uc010rep.2 uc010req.2)
    ENST00000227868 ENST00000430469 ENST00000533262 ENST00000526309 ENST00000532159
    ENST00000477173
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-29c hsa-miR-1297 hsa-miR-3119 hsa-miR-26b hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidPDHX 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF001437.1 AF052166.1 AK057123.1 AK301384.1 AK312463.1 AY952887.1 BC010389.1 BX648910.1 
    U79296.1 U82328.1 Y13145.1 

    16 DOTS entries:

    DT.100730804  DT.456268  DT.86855014  DT.100796281  DT.91862608  DT.453541  DT.92434573  DT.100796288 
    DT.102831508  DT.120698125  DT.100796282  DT.120698132  DT.121036500  DT.100796286  DT.40312513  DT.91983808 

    24/211 AceView cDNA sequences (see all 211):

    BG547083 AA724417 AL119824 BG392023 N48320 BM789687 CB133933 F13285 
    BQ637877 AL709150 AU125458 CB145699 BX119658 U79296 BQ024032 H22213 
    BF351659 CR597392 CB243701 F10884 AI051425 BM832627 CB131443 N49046 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for PDHX

    (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

    PDHX expression in normal human tissues (normalized intensities)      PDHX embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGAAAAGA
    PDHX Expression
    About this image


    PDHX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

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

    SOURCE GeneReport for Unigene cluster: Hs.502315
        SABiosciences Expression via Pathway-Focused PCR Arrays including PDHX: 
              Homeobox (HOX) Genes in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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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 PDHX gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdhx1 , 5 pyruvate dehydrogenase complex, component X1, 5 83.9(n)1
    85.57(a)1
      2 (54.25 cM)5
    274021  NM_175094.51  NP_780303.11 
     1030210755 
    chicken
    (Gallus gallus)
    Aves PDHX1 pyruvate dehydrogenase complex, component X 73.08(n)
    72.67(a)
      423154  NM_001031187.1  NP_001026358.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    79(a)
    48(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    3(189305678-189332307)
    3(54025895-54026706)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW641973.12   -- 77.51(n)    AW641973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661102 hypothetical protein MGC66110 71.28(n)   393532  BC056571.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C30H6.76
    Protein C30H6.7, isoform a
    35(a)
    1 ↔ 1
    IV(17380633-17382230)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDX1(YGR193C)4 Dihydrolipoamide dehydrogenase (E3)-binding protein more   --   7(885741-884509) 853107  NP_011709.1 
    soybean
    (Glycine max)
    eudicotyledons CA799463.12   -- 75.09(n)    CA799463.1 
    rice
    (Oryza sativa)
    Liliopsida AK072554.12   -- 70.59(n)    AK072554.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDHX gene
    DBT2  DLAT2  
    1 SIMAP similar gene for PDHX using alignment to 5 protein entries:     ODPX_HUMAN (see all proteins):
    DLAT

    PDHX 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

    10/1951 SNPs in PDHX are shown (see all 1951)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1133099411,2
    Cpathogenic134916848(+) CCCTAC/G/TAGGCC 5 Q * stg1 int11CSA 2
    rs1995053651,2
    --34639302(+) ACAAA-/CTGTGAA 3 -- int10--------
    rs1468063571,2
    C--34639303(+) CAAAC-/TGTGAAT 3 -- int10--------
    rs358026891,2
    C--34647248(+) CAAAAG/-CGTTA 3 -- int11Minor allele frequency- -:0.00CSA 2
    rs29561241,2
    C,F,H--34654956(+) TTATTT/AAAAAA 3 -- int1 trp33Minor allele frequency- A:0.33NA 6
    rs1451723631,2
    C--34657331(+) AATAT-/TATAAGT 3 -- int10--------
    rs360614271,2
    C--34657488(+) TTTTT-/TT/TTT
            
    GGTGG
    6 -- int1 cds11NA 2
    rs1129178961,2
    C--34661101(+) TAGACTTAA/-  
            
    CTTTA
    3 -- int11Minor allele frequency- -:0.00CSA 2
    rs39806271,2
    C--34661103(+) AGACT-/AAT   
      T
    /TTAA
    TTAAG
    3 -- int10--------
    rs57910231,2
    C--34661103(+) GACTTAATT/-  
            
    TAAGA
    3 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for PDHX (34937376 - 35042138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PDHX:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv518924CNV Loss19592680
    nsv825836CNV Loss20364138
    nsv437716CNV Loss16327808
    esv34511CNV Loss17911159
    nsv897215CNV Loss21882294
    nsv437715CNV Loss16327808
    nsv832119CNV Gain17160897
    essv22260CNV CNV17122850


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

    (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: 608769   
    OMIM disorders: 245349  
    UniProtKB/Swiss-Prot: ODPX_HUMAN, O00330
  • Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]: A metabolic disorder
    characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the
    activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/24 diseases for PDHX (see all 24):    About MalaCards
    e3-binding protein deficiency    ulnar neuropathy    lacticacidemia due to pdx1 deficiency    primary biliary cirrhosis
    lactic acidosis    pyruvate decarboxylase deficiency    liver disease    breast adenocarcinoma
    protein s deficiency    insulinoma    gastritis    neuropathy
    mental retardation    systemic lupus erythematosus    lupus erythematosus    diabetes mellitus
    obesity    adenoma    pneumonia    adenocarcinoma

    4 diseases from the University of Copenhagen DISEASES database for PDHX:
    Pyruvate decarboxylase deficiency     Primary biliary cirrhosis     Leigh disease     Lactic acidosis

    PDHX for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for PDHX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biliary cirrhosis primary 67 8 10385636 (2), 10094940 (2), 10385634 (1), 11050037 (1) (see all 5)
    acidosis lactic 57.5 2 9399911 (1), 15303005 (1)
    leigh syndrome 54.7 1 16566017 (1)
    metaplasia 37.9 6 14631368 (4), 16751181 (2)
    liver diseases 19.7 1 10094940 (1)
    tumors 3.42 2 15166675 (1)

    Genatlas disease: PDHX
    severe developmental delay and mental retardation

    Genetic Association Database (GAD): PDHX
    Human Genome Epidemiology (HuGE) Navigator: PDHX (3 documents)

    Export disorders for PDHX 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 PDHX gene, integrated from 9 sources (see all 92):
    (articles sorted by number of sources associating them with PDHX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. (PubMed id 9467010)1, 2, 3, 9 Ling M.... Robinson B.H. (1998)
    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. 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)
    4. Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex. (PubMed id 9242632)1, 2, 9 Harris R.A.... Popov K.M. (1997)
    5. 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)
    6. Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. (PubMed id 9399911)1, 2, 9 Aral B.... Marsac C. (1997)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Quantitative proteomics: the copy number of pyruvate dehydrogenase is more than 10(2)-fold lower than that of complex III in human mitochondria. (PubMed id 12372595)1, 3 Murray J....Capaldi R.A. (2002)

    (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: 8050 HGNC: 21350 AceView: PDHX Ensembl:ENSG00000110435 euGenes: HUgn8050
    ECgene: PDHX Kegg: 8050 H-InvDB: PDHX

    (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 PDHX Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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