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PDHB Gene

protein-coding   GIFtS: 67
GCID: GC03M058388

Pyruvate Dehydrogenase (Lipoamide) Beta

  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)
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Aliases
Pyruvate Dehydrogenase (Lipoamide) Beta1 2     PDHBD2 5
PDHE1-B2 3     Pyruvate Dehydrogenase E1 Component Subunit Beta, Mitochondrial2
PHE1B2 3     Pyruvate Dehydrogenase, E1 Beta Polypeptide2
EC 1.2.4.13 8     

External Ids:    HGNC: 88081   Entrez Gene: 51622   Ensembl: ENSG000001682917   OMIM: 1790605   UniProtKB: P111773   

Export aliases for PDHB gene to outside databases

Previous GC identifers: GC03M057277 GC03M057782 GC03M058268 GC03M058370


(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 PDHB Gene:
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the
overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis
and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic
components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase
(E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta
subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively
spliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2012)

GeneCards Summary for PDHB Gene:
PDHB (pyruvate dehydrogenase (lipoamide) beta) is a protein-coding gene. Diseases associated with PDHB include pyruvate dehydrogenase e1-beta deficiency, and pyruvate decarboxylase deficiency. GO annotations related to this gene include pyruvate dehydrogenase activity and pyruvate dehydrogenase (acetyl-transferring) activity. An important paralog of this gene is BCKDHB.

UniProtKB/Swiss-Prot: ODPB_HUMAN, P11177
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 PDHB (Pyruvate dehydrogenase beta) 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:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDHB gene promoter:
         SRF   SRF (504 AA)   SREBP-1c   Roaz   SREBP-1b   SREBP-1a   FOXJ2 (long isoform)   ARP-1   IRF-7A   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDHB promoter sequence
   Search Chromatin IP Primers for PDHB

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


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

Entrez Gene cytogenetic band: 3p21.1-p14.2   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p21.1-p14.2

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M058388:  view genomic region     (about GC identifiers)

Start:
58,413,357 bp from pter      End:
58,419,584 bp from pter
Size:
6,228 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ODPB_HUMAN, P11177 (See protein sequence)
Recommended Name: Pyruvate dehydrogenase E1 component subunit beta, mitochondrial precursor  
Size: 359 amino acids; 39233 Da
Cofactor: Thiamine pyrophosphate
Subunit: Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is 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
Selected PDB 3D structures from and Proteopedia for PDHB (see all 7):
1NI4 (3D)        2OZL (3D)        3EXE (3D)        3EXF (3D)        3EXG (3D)        3EXH (3D)    
Secondary accessions: B2R7L0 B4DDD7 Q6FH45 Q9BQ27 Q9UFK3
Alternative splicing: 3 isoforms:  P11177-1   P11177-2   P11177-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDHB: NX_P11177

Explore proteomics data for PDHB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys336
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PDHB (P11177) (see all 15)
     RIIDTPI  AKGLIKS  AIRDNNPV  PGLKVVSP 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000916.2  NP_001166939.1  

    ENSEMBL proteins: 
     ENSP00000307241   ENSP00000373220   ENSP00000419580   ENSP00000417267   ENSP00000418448  
    Reactome Protein details: P11177

    PDHB Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR005476 Transketolase_C
     IPR005475 Transketolase-like_Pyr-bd
     IPR009014 Transketo_C/Pyr-ferredox_oxred

    Graphical View of Domain Structure for InterPro Entry P11177

    ProtoNet protein and cluster: P11177

    2 Blocks protein domains:
    IPB005475 Transketolase
    IPB005476 Transketolase



    PDHB 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ODPB_HUMAN, P11177
    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: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine =
    [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)

         Genatlas biochemistry entry for PDHB:
    pyruvate dehydrogenase,E1 beta subunit

         Enzyme Number (IUBMB): EC 1.2.4.11 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004738pyruvate dehydrogenase activity IDA19081061
    GO:0004739pyruvate dehydrogenase (acetyl-transferring) activity IEA--
    GO:0005515protein binding IPI18206651
         
    PDHB for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PDHB:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
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    miRTarBase miRNAs that target PDHB:
    hsa-mir-1260b (MIRT052771), hsa-mir-98-5p (MIRT027487)

    Block miRNA regulation of human, mouse, rat PDHB using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PDHB:
    hsa-miR-1323 hsa-miR-548o hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidPDHB 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PDHB (NM_000925)
    Sino Biological Human cDNA Clone for PDHB
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    (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
    ODPB_HUMAN, P11177: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0045254pyruvate dehydrogenase complex IDA19081061

    PDHB for ontologies           About GeneDecksing


    (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 PDHB 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


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


    Selected Kegg Pathways  (Kegg details for PDHB) (see all 6):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Metabolic pathways
    Carbon metabolism


    PDHB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDHB: 
              Amino Acid Metabolism I in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PDHB

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

    Selected Interacting proteins for PDHB (P111771, 2, 3 ENSP000003072414) via UniProtKB, MINT, STRING, and/or I2D (see all 283)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLATP105151, 2, 3, ENSP000002803464EBI-1035872,EBI-2959723 MINT-6174630 MINT-6174675 MINT-6174645 MINT-6174707 MINT-6174602 MINT-6174660 MINT-6174689 I2D: score=8 STRING: ENSP00000280346
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: 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:0006086acetyl-CoA biosynthetic process from pyruvate IDA19081061
    GO:0006090pyruvate metabolic process TAS--
    GO:0006099tricarboxylic acid cycle IDA19081061
    GO:0008152metabolic process ----

    PDHB for ontologies           About GeneDecksing



    (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 PDHB (ODPB)

    Selected HMDB Compounds for PDHB (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-03718468
    Alpha-ketoisovaleric acid2-Ketoisovalerate (see all 45)759-05-76822537
    2-(a-Hydroxyethyl)thiamine diphosphate2-Hydroxyethyl-ThPP (see all 6)10055-47-7--
    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--
    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-Acetyldihydrolipoamide-EDihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine ----

    2 DrugBank Compounds for PDHB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 1116996 17016423
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3target--16855207

    1 Novoseek inferred chemical compound relationship for PDHB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyruvate 73.4 9 18164639 (2), 2376596 (1), 8433986 (1), 18398875 (1) (see all 7)



    PDHB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDHB gene (2 alternative transcripts): 
    NM_000925.3  NM_001173468.1  

    Unigene Cluster for PDHB:

    Pyruvate dehydrogenase (lipoamide) beta
    Hs.161357  [show with all ESTs]
    Unigene Representative Sequence: NR_033384
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302746(uc011bff.2 uc003dkf.4) ENST00000383714(uc003dkg.4)
    ENST00000469364 ENST00000485460 ENST00000479945 ENST00000474765 ENST00000461692(uc003dke.4)
    ENST00000480626 ENST00000482894 ENST00000469827
    miRNA
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    hsa-miR-1323 hsa-miR-548o hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidPDHB 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat PDHB
      QuantiFast Probe-based Assays in human, mouse, rat PDHB

    Additional mRNA sequence: 

    AK225569.1 AK225621.1 AK293153.1 AK311514.1 AK313022.1 AL117618.1 BC000439.2 BC001924.1 
    BC004115.2 CR541911.1 J03576.1 M34055.1 M34056.1 M34479.1 M54788.1 NR_033384.1 
    X57778.1 

    19 DOTS entries:

    DT.449360  DT.100801997  DT.100713035  DT.100812245  DT.100812243  DT.100812240  DT.95369182  DT.99942221 
    DT.120858021  DT.100030661  DT.100030662  DT.100812239  DT.120857984  DT.120858013  DT.120858029  DT.317964 
    DT.95101319  DT.95206489  DT.95369181 

    Selected AceView cDNA sequences (see all 538):

    CB158480 CF127470 AU107588 BU684535 BM821984 CR597691 CR591704 AW068916 
    CR596425 BU634079 H87666 CB851105 BM709715 CR596462 CA415485 BU161228 
    BU631480 BU619486 BU077482 CR595069 BQ477366 BM970952 BI090612 H25425 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PDHB (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c
    SP1:                          -     -                             -     -                       -     -                                             
    SP2:                                -     -                       -     -                       -     -                                             
    SP3:                          -     -                             -     -                       -                                                   
    SP4:                          -     -                             -     -                       -     -                                             
    SP5:                    -     -     -                             -     -                       -     -                                             


    ECgene alternative splicing isoforms for PDHB

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


    PDHB 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
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Thymus (Hematopoietic System)
             Thymus
    PDHB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDHB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.161357
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDHB: 
              Amino Acid Metabolism I in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
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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 PDHB gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdhb1 , 5 pyruvate dehydrogenase (lipoamide) beta1, 5 88.39(n)1
    93.59(a)1
      14 (4.74 cM)5
    682631  NM_024221.31  NP_077183.11 
     81659915 
    chicken
    (Gallus gallus)
    Aves PDHB1 pyruvate dehydrogenase (lipoamide) beta 77.35(n)
    86.47(a)
      416066  NM_001198620.1  NP_001185549.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDHB6
    pyruvate dehydrogenase (lipoamide) beta
    83(a)
    1 ↔ 1
    2(187220846-187230905)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.3722 Xenopus laevis pyruvate dehydrogenase E1-beta subunit more 79.54(n)    U39668.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc76a052 Danio rerio pyruvate dehydrogenase, mRNA (cDNA clone more 76.11(n)    BC053233.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118761 , 3 pyruvate dehydrogenase (lipoamide)3
    CG118761
    67(a)3
    62.58(n)1
    67.52(a)1
      98F103
    434371  NM_143411.41  NP_651668.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C04C3.33
    pdhb-11
    pyruvate dehydrogenase3
    pdhb-11
    66(a)3
    60.73(n)1
    66.38(a)1
      IV(3399690-3403687)3
    1771081  NM_067939.51  NP_500340.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDB1(YBR221C)4
    PDB11
    E1 beta subunit of the pyruvate dehydrogenase (PDH) more4
    PDB11
    60.63(n)1
    62.58(a)1
      2(666253-665153)4
    8525221, 4  NP_009780.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MAB11 MAB1 60.15(n)
    59.48(a)
      835157  NM_124463.3  NP_199898.1 
    rice
    (Oryza sativa)
    Liliopsida AK071782.12   -- 71.38(n)    AK071782.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDHB gene
    BCKDHB2  
    1 SIMAP similar gene for PDHB using alignment to 3 protein entries:     ODPB_HUMAN (see all proteins):
    BCKDHB

    PDHB 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), 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 PDHB (see all 232)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289333911,2,,4
    CPyruvate dehydrogenase E1-beta deficiency (PDHBD)4 pathogenic158366161(-) CTATAC/TCTCAG 5 P S nc-transcript-variantmis1 ese30--------
    rs289357691,2,,4
    CPyruvate dehydrogenase E1-beta deficiency (PDHBD)4 pathogenic158368928(-) CTACTA/GCATGT 5 Y C nc-transcript-variantmis1 ese30--------
    rs1885927031,2
    --58365210(+) ATTATC/TCTGCC 3 -- ds50010--------
    rs1416654131,2
    --58365262(+) TGCCCA/GGCTTT 3 -- ds50010--------
    rs1811726511,2
    --58365330(+) CTGCCC/TGCCTT 3 -- ds50010--------
    rs1848496551,2
    --58365375(+) CACCAC/TGCCCA 3 -- ds50010--------
    rs1893042331,2
    --58365496(+) TCAGGA/TGTTCA 3 -- ds50010--------
    rs1505097031,2
    --58365505(+) CAAGAC/TCAGCC 3 -- ds50010--------
    rs1398359041,2
    --58365548(+) AAACAA/CCAAAA 3 -- ds50010--------
    rs1143568891,2
    F--58365559(+) TTAGCC/TGGATG 3 -- ds50011Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for PDHB (58413357 - 58419584 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PDHB: --
    Human Gene Mutation Database (HGMD): PDHB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDHB
    DNA2.0 Custom Variant and Variant Library Synthesis for PDHB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179060   
    OMIM disorders: 614111  
    UniProtKB/Swiss-Prot: ODPB_HUMAN, P11177
  • Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]: An enzymatic defect causing primary
    lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis
    in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system
    without systemic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for PDHB:    
    About MalaCards
    pyruvate dehydrogenase e1-beta deficiency    pyruvate decarboxylase deficiency    cardia cancer    primary biliary cirrhosis
    lactic acidosis    nasopharyngitis    ataxia    melanoma
    multiple myeloma    myeloma    malaria    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for PDHB:
    Pyruvate decarboxylase deficiency     Leigh disease     Lactic acidosis

    PDHB for disorders           About GeneDecksing

    Genatlas disease: PDHB
    ataxia,intermittent,congenital lactate acidosis,progressive neurologic dysfunction (PDH complex deficiency)

    Genetic Association Database (GAD): PDHB
    Human Genome Epidemiology (HuGE) Navigator: PDHB (1 document)

    Export disorders for PDHB 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 PDHB gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with PDHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. (PubMed id 2376596)1, 2, 9 Huh T.L.... Song B.J. (J. Biol. Chem. 1990)
    2. 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)
    3. Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops. (PubMed id 19081061)1, 2 Kato M....Chuang D.T. (Structure 2008)
    4. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. (PubMed id 15138885)1, 2 Brown R.M....Brown G.K. (Hum. Genet. 2004)
    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 Hiromasa Y.... Roche T.E. (J. Biol. Chem. 2004)
    6. 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. (Genome Res. 2004)
    7. Structural basis for flip-flop action of thiamin pyrophosphate- dependent enzymes revealed by human pyruvate dehydrogenase. (PubMed id 12651851)1, 2 Ciszak E.M.... Patel M.S. (J. Biol. Chem. 2003)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    9. The human myocardial two-dimensional gel protein database: update 1994. (PubMed id 7895732)1, 2 Corbett J.M.... Dunn M.J. (Electrophoresis 1994)
    10. Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex. (PubMed id 1702713)1, 2 Chun K.... Robinson B.H. (Eur. J. Biochem. 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5162 HGNC: 8808 AceView: PDHB Ensembl:ENSG00000168291 euGenes: HUgn5162
    ECgene: PDHB Kegg: 5162 H-InvDB: PDHB

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PDHB 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 PDHB gene:
    Search GeneIP for patents involving PDHB

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



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