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

PDHB Gene

protein-coding   GIFtS: 66
GCID: GC03M058388

pyruvate dehydrogenase (lipoamide) beta
 Explore 10 diseases affiliated with
PDHB via
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 Human Malady Compendium 
Biological research products
for PDHB    

Aliases
for PDHB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Pyruvate Dehydrogenase (Lipoamide) Beta1 2     PDHBD2
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   
ORGUL members:         
NONCODE:n409226    

Export aliases for PDHB gene to outside databases

Previous GC identifers: GC03M057277 GC03M057782 GC03M058268 GC03M058370


Summaries
for PDHB 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 PDHB:
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)

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)


Genomic Views
for PDHB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 plasmid: PDHB promoter sequence
   Search SABiosciences Chromatin IP Primers for PDHB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PDHB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion matrix
6/7 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11177

    • 4/15 DME Specific Peptides for PDHB (P11177) (see all 15)
     RIIDTPI  AKGLIKS  AIRDNNPV  PGLKVVSP 

    PDHB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000307241   ENSP00000373220   ENSP00000419580   ENSP00000417267   ENSP00000418448  
    Reactome Protein details: P11177
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

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

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


    PDHB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PDHB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDHB for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005476 Transketolase_C
     IPR027110 PDHB
     IPR005475 Transketolase-like_Pyr-bd
     IPR015941 Transketolase-like_C
     IPR009014 Transketo_C/Pyr-ferredox_oxred

    Graphical View of Domain Structure for InterPro Entry P11177

    ProtoNet protein and cluster: P11177

    2 Blocks protein families:
    IPB005475 Transketolase
    IPB005476 Transketolase



    Function
    for PDHB gene

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

         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
    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

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHB:
    hsa-miR-1323 hsa-miR-548o hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmid: PDHB 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004738pyruvate dehydrogenase activity IDA19081061
    GO:0004739pyruvate dehydrogenase (acetyl-transferring) activity IEA--


    PDHB for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for PDHB gene

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

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    2Pyruvate metabolism
    		Pyruvate metabolism1.00
    		Regulation of pyruvate dehydrogenase (PDH) complex0.60
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Glycolysis and gluconeogenesis (short map)
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis / Gluconeogenesis0.41
    5pyruvate decarboxylation to acetyl CoA
    		pyruvate decarboxylation to acetyl CoA1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for PDHB 
        pyruvate decarboxylation to acetyl CoA
    Glycolysis and Gluconeogenesis
    TCA Cycle

    5        Reactome Pathways for PDHB
        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


    5/6         Kegg Pathways  (Kegg details for PDHB) (see all 6):
        Glycolysis / Gluconeogenesis
    Citrate cycle (TCA cycle)
    Valine, leucine and isoleucine biosynthesis
    Pyruvate metabolism
    Butanoate metabolism


    PDHB for pathways           About GeneDecksing

    Interactions:

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

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

    5/203 Interacting proteins for PDHB (P111772, 3 ENSP000003072414) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0006096glycolysis ----
    GO:0006099tricarboxylic acid cycle IDA19081061


    PDHB for ontologies           About GeneDecksing



    Drugs & Compounds
    for PDHB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDHB for compounds           About GeneDecksing

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

    Browse Tocris compounds for PDHB

    10/11 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 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)

    Search CenterWatch for drugs/clinical trials and news about PDHB / ODPB 

    Transcripts
    for PDHB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 plasmid: PDHB 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/538 AceView cDNA sequences (see all 538):

    H87666 BU684535 H25425 BI858321 AU076599 CB851105 CR625583 CR595868 
    CR591704 CR618835 BM810096 CR617052 BU631480 CR597137 CR597691 CF127470 
    BU161228 BU619744 BM720880 CR604454 AI753777 CR594405 BU784425 CR595069 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for PDHB 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

    PDHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PDHB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.161357
        SABiosciences Expression via Pathway-Focused PCR Arrays including PDHB: 
              Amino Acid Metabolism I in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for PDHB 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 PDHB gene from 10/39 species (see all 39)    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 2(187221614-187230905)
    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_143411.31  NP_651668.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea C04C3.33
    pdhb-11    		 pyruvate dehydrogenase3
    Protein PDHB-11    		 66(a)3
    60.73(n)1
    66.38(a)1    		   IV(3399690-3403687)3
    1771081  NM_067939.41  NP_500340.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes PDB1(YBR221C)4
    PDB11    		 E1 beta subunit of the pyruvate dehydrogenase (PDH) more4
    Pdb1p1    		 60.63(n)1
    62.58(a)1    		   2(666253-665153)4
    8525221, 4  NP_009780.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MAB11 pyruvate dehydrogenase E1 component subunit beta 60.98(n)
    61.28(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
    for PDHB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for PDHB gene

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

    10/172 NCBI SNPs in PDHB are shown (see all 172)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289357691,2
    		Cpathogenic74022631(-) CTACTA/GCATGT 5 Y C nc-transcript-variantmis1 ese32Minor allele frequency- G:0.00NA 4
    rs289333911,2
    		Cpathogenic74025398(-) CTATAC/TCTCAG 5 P S mis1 ese32Minor allele frequency- T:0.00NA 4
    rs1885927031,2
    		--58412861(+) ATTATC/TCTGCC 3 -- ds50010--------
    rs1416654131,2
    		--58412913(+) TGCCCA/GGCTTT 3 -- ds50010--------
    rs1811726511,2
    		--58412981(+) CTGCCC/TGCCTT 3 -- ds50010--------
    rs1848496551,2
    		--58413026(+) CACCAC/TGCCCA 3 -- ds50010--------
    rs1893042331,2
    		--58413147(+) TCAGGA/TGTTCA 3 -- ds50010--------
    rs1505097031,2
    		--58413156(+) CAAGAC/TCAGCC 3 -- ds50010--------
    rs1398359041,2
    		--58413199(+) AAACAA/CCAAAA 3 -- ds50010--------
    rs1143568891,2
    		--58413210(+) TTAGCC/TGGATG 3 -- ds50011Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for PDHB (58413357 - 58419584 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PDHB: --
    Human Gene Mutation Database (HGMD): PDHB

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    Disorders / Diseases
    for PDHB gene

    (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.)
    About This Section
    PDHB for disorders           About GeneDecksing

    OMIM gene information: 179060    OMIM disorders: --

    UniProtKB/Swiss-Prot: ODPB_HUMAN, P11177
  • Defects in PDHB are the cause of 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

    10 diseases for PDHB:    About MalaCards
    pyruvate decarboxylase deficiency    lactic acidosis    primary biliary cirrhosis    cardia cancer
    leigh disease    nasopharyngitis    ataxia    melanoma
    malaria    carcinoma

    3 diseases from the University of Copenhagen DISEASES database for PDHB:
    Pyruvate decarboxylase deficiency     Leigh disease     Lactic acidosis
    Genatlas disease: PDHB
    ataxia,intermittent,congenital lactate acidosis,progressive neurologic dysfunction (PDH complex deficiency)

    Human Genome Epidemiology (HuGE) Navigator: PDHB (1 document)

    Export disorders for PDHB gene to outside databases

    Publications
    for PDHB 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 PDHB gene, integrated from 9 sources (see all 59):
    (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. (1990)
    2. 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. (2008)
    3. 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. (2004)
    4. 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. (2004)
    5. 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)
    6. 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. (2003)
    7. 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. (2001)
    8. The human myocardial two-dimensional gel protein database: update 1994. (PubMed id 7895732)1, 2 Corbett J.M.... Dunn M.J. (1994)
    9. 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. (1990)
    10. Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene. (PubMed id 2377599)1, 2 Koike K.... Koike M. (1990)

    External Searches for PDHB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PDHB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5162 HGNC: 8808 AceView: PDHB Ensembl:ENSG00000168291 euGenes: HUgn5162
    ECgene: PDHB Kegg: 5162 H-InvDB: PDHB

    Other Databases showing PDHB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDHB 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 PDHB Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PDHB gene

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