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Aliases for PDHB Gene

Aliases for PDHB Gene

  • Pyruvate Dehydrogenase (Lipoamide) Beta 2 3 5
  • EC 4 63
  • PDHE1-B 3 4
  • PHE1B 3 4
  • Pyruvate Dehydrogenase, E1 Beta Polypeptide 3
  • PDHBD 3

External Ids for PDHB Gene

Previous GeneCards Identifiers for PDHB Gene

  • GC03M057277
  • GC03M057782
  • GC03M058268
  • GC03M058370

Summaries for PDHB Gene

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 Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Glucagon signaling pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity and pyruvate dehydrogenase activity. An important paralog of this gene is BCKDHB.

UniProtKB/Swiss-Prot for PDHB Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDHB Gene

Genomics for PDHB Gene

Regulatory Elements for PDHB Gene

Enhancers for PDHB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDHB on UCSC Golden Path with GeneCards custom track

Promoters for PDHB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDHB on UCSC Golden Path with GeneCards custom track

Genomic Location for PDHB Gene

58,427,630 bp from pter
58,433,857 bp from pter
6,228 bases
Minus strand

Genomic View for PDHB Gene

Genes around PDHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDHB Gene

Proteins for PDHB Gene

  • Protein details for PDHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R7L0
    • B4DDD7
    • Q6FH45
    • Q9BQ27
    • Q9UFK3

    Protein attributes for PDHB Gene

    359 amino acids
    Molecular mass:
    39233 Da
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for PDHB Gene

    Alternative splice isoforms for PDHB Gene


neXtProt entry for PDHB Gene

Proteomics data for PDHB Gene at MOPED

Post-translational modifications for PDHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDHB Gene

Antibody Products

Domains & Families for PDHB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDHB: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PDHB Gene

Function for PDHB Gene

Molecular function for PDHB Gene

GENATLAS Biochemistry:
pyruvate dehydrogenase,E1 beta subunit
UniProtKB/Swiss-Prot CatalyticActivity:
Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PDHB Gene

genes like me logo Genes that share phenotypes with PDHB: view

Human Phenotype Ontology for PDHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PDHB Gene

Localization for PDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHB Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PDHB Gene COMPARTMENTS Subcellular localization image for PDHB gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for PDHB Gene

Pathways & Interactions for PDHB Gene

genes like me logo Genes that share pathways with PDHB: view

Gene Ontology (GO) - Biological Process for PDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with PDHB: view

No data available for SIGNOR curated interactions for PDHB Gene

Drugs & Compounds for PDHB Gene

(10) Drugs for PDHB Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra Target 0
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0
thiamin diphosphate Experimental Pharma 0
NADH Nutra Target 0

(4) Additional Compounds for PDHB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-(alpha-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-ThPP
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-4-methyl-5-(4,6,6-trihydroxy-3,5-dioxa-4,6-diphosphahex-1-yl)- P,P'-dioxide
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-5-(2-hydroxyethyl)-4-methyl- 5-(trihydrogen pyrophosphate) (8CI)
  • Thiazolium
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
genes like me logo Genes that share compounds with PDHB: view

Transcripts for PDHB Gene

Unigene Clusters for PDHB Gene

Pyruvate dehydrogenase (lipoamide) beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDHB Gene

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: - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - -
SP8: - -
SP9: - - - - - -

Relevant External Links for PDHB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDHB Gene

mRNA expression in normal human tissues for PDHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDHB Gene

This gene is overexpressed in Heart (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDHB Gene

SOURCE GeneReport for Unigene cluster for PDHB Gene Hs.161357

genes like me logo Genes that share expression patterns with PDHB: view

Protein tissue co-expression partners for PDHB Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PDHB Gene

Orthologs for PDHB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PDHB 35
  • 91.74 (n)
  • 93.87 (a)
  • 94 (a)
(Canis familiaris)
Mammalia PDHB 35
  • 92.66 (n)
  • 96.38 (a)
-- 36
  • 96 (a)
-- 36
  • 95 (a)
(Mus musculus)
Mammalia Pdhb 35
  • 88.39 (n)
  • 93.59 (a)
Pdhb 16
Pdhb 36
  • 94 (a)
(Pan troglodytes)
Mammalia PDHB 35
  • 99.44 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Pdhb 35
  • 88.21 (n)
  • 94.43 (a)
(Monodelphis domestica)
Mammalia PDHB 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia PDHB 36
  • 91 (a)
(Gallus gallus)
Aves PDHB 35
  • 77.35 (n)
  • 86.47 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia PDHB 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdhb 35
  • 76.88 (n)
  • 84.12 (a)
Str.4760 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.372 35
(Danio rerio)
Actinopterygii pdhb 35
  • 73.26 (n)
  • 83.84 (a)
wufc76a05 35
pdhb 36
  • 84 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11876 37
  • 67 (a)
CG11876 35
  • 62.58 (n)
  • 67.52 (a)
CG11876 36
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010421 35
  • 62.71 (n)
  • 70.43 (a)
(Caenorhabditis elegans)
Secernentea C04C3.3 37
  • 66 (a)
pdhb-1 35
  • 60.73 (n)
  • 66.38 (a)
pdhb-1 36
  • 65 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR167C 35
  • 59.33 (n)
  • 60.29 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09603g 35
  • 61.09 (n)
  • 60.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDB1 35
  • 60.63 (n)
  • 62.58 (a)
PDB1 36
  • 57 (a)
PDB1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MAB1 35
  • 60.15 (n)
  • 59.48 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1955 35
(Hordeum vulgare)
Liliopsida Hv.6624 35
(Oryza sativa)
Liliopsida Os08g0536000 35
  • 58.89 (n)
  • 59.08 (a)
(Zea mays)
Liliopsida Zm.433 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4730 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03004 35
  • 60.1 (n)
  • 62.15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pdb1 35
  • 59.9 (n)
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10514 36
  • 71 (a)
Species with no ortholog for PDHB:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDHB Gene

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

Paralogs for PDHB Gene

Paralogs for PDHB Gene

(1) SIMAP similar genes for PDHB Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PDHB: view

Variants for PDHB Gene

Sequence variations from dbSNP and Humsavar for PDHB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_004967 -
rs28933391 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) 58,428,084(+) CTATA(A/C/G/T)CTCAG nc-transcript-variant, reference, missense
rs28935769 Pyruvate dehydrogenase E1-beta deficiency (PDHBD) 58,430,851(-) CTACT(A/G)CATGT nc-transcript-variant, reference, missense
rs4228 -- 58,427,942(-) CATAA(A/C/T)GGAAA nc-transcript-variant, utr-variant-3-prime
rs7230 -- 58,427,935(-) GAAAA(C/G/T)GATTT nc-transcript-variant, utr-variant-3-prime

Variation tolerance for PDHB Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDHB Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PDHB Gene

Disorders for PDHB Gene

MalaCards: The human disease database

(3) MalaCards diseases for PDHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pyruvate dehydrogenase e1-beta deficiency
  • pyruvate dehydrogenase complex deficiency disease
pyruvate dehydrogenase e1-alpha deficiency
  • pyruvate decarboxylase deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PDHB in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:15138885}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PDHB Gene

ataxia,intermittent,congenital lactate acidosis,progressive neurologic dysfunction (PDH complex deficiency)

Relevant External Links for PDHB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PDHB: view

Publications for PDHB Gene

  1. Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. (PMID: 2376596) Huh T.L. … Song B.J. (J. Biol. Chem. 1990) 3 4 23 67
  2. Activity of pyruvate dehydrogenase A (PDHA) in hamster spermatozoa correlates positively with hyperactivation and is associated with sperm capacitation. (PMID: 16855207) Kumar V. … Shivaji S. (Biol. Reprod. 2006) 23 25 26
  3. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. (PMID: 18164639) Okajima K. … Kerr D.S. (Mol. Genet. Metab. 2008) 3 23
  4. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  5. ATP6AP2/(pro)renin receptor contributes to glucose metabolism via stabilizing the pyruvate dehydrogenase E1 I^ subunit. (PMID: 25720494) Kanda A. … Ishida S. (J. Biol. Chem. 2015) 3

Products for PDHB Gene

Sources for PDHB Gene