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Aliases for PDHB Gene

Aliases for PDHB Gene

  • Pyruvate Dehydrogenase (Lipoamide) Beta 2 3
  • EC 1.2.4.1 4 63
  • PDHE1-B 3 4
  • PDHBD 3 6
  • PHE1B 3 4
  • Pyruvate Dehydrogenase E1 Component Subunit Beta, Mitochondrial 3
  • Pyruvate Dehydrogenase, E1 Beta Polypeptide 3

External Ids for PDHB Gene

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. Among its related pathways are Metabolism and Metabolism. 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

Genomic Location for PDHB Gene

Start:
58,427,630 bp from pter
End:
58,433,857 bp from pter
Size:
6,228 bases
Orientation:
Minus strand

Genomic View for PDHB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDHB Gene

Regulatory Elements for PDHB Gene

Proteins for PDHB Gene

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

    Protein Symbol:
    P11177-ODPB_HUMAN
    Recommended name:
    Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
    Protein Accession:
    P11177
    Secondary Accessions:
    • B2R7L0
    • B4DDD7
    • Q6FH45
    • Q9BQ27
    • Q9UFK3

    Protein attributes for PDHB Gene

    Size:
    359 amino acids
    Molecular mass:
    39233 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PDHB Gene

Proteomics data for PDHB Gene at MOPED

Post-translational modifications for PDHB Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys336

Other Protein References for PDHB Gene

Domains 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

Gene Ontology (GO) - Molecular Function for PDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004738 pyruvate dehydrogenase activity IDA 19081061
GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity IEA --
GO:0005515 protein binding IPI 18206651
genes like me logo Genes that share ontologies with PDHB: view

Phenotypes for PDHB Gene

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

miRNA for PDHB Gene

miRTarBase miRNAs that target PDHB

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PDHB Gene

Localization for PDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDHB Gene

Mitochondrion matrix.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for PDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0045254 pyruvate dehydrogenase complex IDA 19081061
genes like me logo Genes that share ontologies with PDHB: view

Pathways 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:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IDA 19081061
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle IDA 19081061
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with PDHB: view

Compounds for PDHB Gene

(11) HMDB Compounds for PDHB Gene

Compound Synonyms Cas Number PubMed IDs
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-ThPP
10055-47-7
2-Ketobutyric acid
  • 2-Ketobutanoate
600-18-0
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Alpha-ketoisovaleric acid
  • 2-Ketoisovalerate
759-05-7
Carbon dioxide
  • Carbon oxide
124-38-9

(2) Drugbank Compounds for PDHB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
Pyruvic acid
  • 2-Oxopropanoate
127-17-3 target

(1) Novoseek inferred chemical compound relationships for PDHB Gene

Compound -log(P) Hits PubMed IDs
pyruvate 73.4 8
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: - - - - - -
SP10:
SP11:

Relevant External Links for PDHB Gene

GeneLoc Exon Structure for
PDHB
ECgene alternative splicing isoforms for
PDHB

Expression for PDHB Gene

mRNA expression in normal human tissues for PDHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with PDHB: view

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
chimpanzee
(Pan troglodytes)
Mammalia PDHB 35
  • 99.44 (n)
  • 100 (a)
PDHB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDHB 35
  • 91.74 (n)
  • 93.87 (a)
PDHB 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
PDHB 35
  • 92.66 (n)
  • 96.38 (a)
mouse
(Mus musculus)
Mammalia Pdhb 35
  • 88.39 (n)
  • 93.59 (a)
Pdhb 16
Pdhb 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDHB 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDHB 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdhb 35
  • 88.21 (n)
  • 94.43 (a)
chicken
(Gallus gallus)
Aves PDHB 35
  • 77.35 (n)
  • 86.47 (a)
PDHB 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDHB 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.372 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pdhb 35
  • 76.88 (n)
  • 84.12 (a)
Str.4760 35
zebrafish
(Danio rerio)
Actinopterygii pdhb 35
  • 73.26 (n)
  • 83.84 (a)
pdhb 36
  • 84 (a)
OneToOne
wufc76a05 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010421 35
  • 62.71 (n)
  • 70.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11876 35
  • 62.58 (n)
  • 67.52 (a)
CG11876 36
  • 65 (a)
OneToOne
CG11876 37
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea pdhb-1 35
  • 60.73 (n)
  • 66.38 (a)
pdhb-1 36
  • 65 (a)
ManyToMany
C04C3.3 37
  • 66 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR167C 35
  • 59.33 (n)
  • 60.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDB1 35
  • 60.63 (n)
  • 62.58 (a)
PDB1 36
  • 57 (a)
OneToMany
PDB1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09603g 35
  • 61.09 (n)
  • 60.7 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1955 35
thale cress
(Arabidopsis thaliana)
eudicotyledons MAB1 35
  • 60.15 (n)
  • 59.48 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6624 35
corn
(Zea mays)
Liliopsida Zm.433 35
rice
(Oryza sativa)
Liliopsida Os08g0536000 35
  • 58.89 (n)
  • 59.08 (a)
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 intestinalis)
Ascidiacea Cin.4730 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10514 36
  • 71 (a)
OneToOne
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

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

Paralogs for PDHB Gene

Paralogs for PDHB Gene

Selected 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 MAF
rs4228 -- 58,427,942(-) CATAA(A/C)GGAAA utr-variant-3-prime, nc-transcript-variant
rs7230 -- 58,427,935(-) GAAAA(C/G/T)GATTT utr-variant-3-prime, nc-transcript-variant
rs7231 -- 58,427,738(-) GTCCT(C/G)ATGAA utr-variant-3-prime, nc-transcript-variant
rs13446 -- 58,428,515(-) GGCCA(A/C)AGTTT missense, reference, nc-transcript-variant
rs1126551 Likely benign 58,430,808(-) AGAGG(A/G)CCCAA synonymous-codon, reference, intron-variant, nc-transcript-variant

Relevant External Links for PDHB Gene

HapMap Linkage Disequilibrium report
PDHB
Human Gene Mutation Database (HGMD)
PDHB

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

(1) OMIM Diseases for PDHB Gene (179060)

UniProtKB/Swiss-Prot

ODPB_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for PDHB Gene

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)
PDHB
Human Genome Epidemiology (HuGE) Navigator
PDHB
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
  2. 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
  3. Isolation of tryptic fragment of antigen from mitochondrial inner membrane proteins reacting with antimitochondrial antibody in sera of patients with primary biliary cirrhosis. (PMID: 2295468) Muno D. … Namihisa T. (Hepatology 1990) 3 4
  4. Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex. (PMID: 2323578) Ho L. … Patel M.S. (Gene 1990) 3 4
  5. Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene. (PMID: 2377599) Koike K. … Koike M. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4

Products for PDHB Gene

Sources for PDHB Gene

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