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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]
PDHB (Pyruvate Dehydrogenase E1 Subunit Beta) is a Protein Coding gene. Diseases associated with PDHB include Pyruvate Dehydrogenase E1-Beta Deficiency and Marshall-Smith Syndrome. Among its related pathways are Glucose metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity and pyruvate dehydrogenase activity. An important paralog of this gene is BCKDHB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004739 | pyruvate dehydrogenase (acetyl-transferring) activity | IEA,IDA | 19081061 |
GO:0005515 | protein binding | IPI | 12651851 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0034604 | contributes_to pyruvate dehydrogenase (NAD+) activity | IDA | 18164639 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005967 | mitochondrial pyruvate dehydrogenase complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Citrate cycle (TCA cycle) | ||
2 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
3 | Glucose metabolism | ||
4 | Metabolism |
.40
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|
5 | Carbon metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | IEA,IDA | 19081061 |
GO:0006090 | pyruvate metabolic process | TAS | -- |
GO:0006099 | tricarboxylic acid cycle | TAS,IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Pyruvic acid | Approved, Investigational | Nutra | Target | 0 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
2-Ketobutyric acid | Experimental | Pharma | 0 | |||
alpha-ketoisovalerate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-(a-Hydroxyethyl)thiamine diphosphate |
|
10055-47-7 |
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acetyl-coa |
|
72-89-9 |
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S-Acetyldihydrolipoamide-E |
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|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PDHB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
PDHB 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | PDHB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PDHB 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PDHB 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pdhb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pdhb 30 |
|
||
Chicken (Gallus gallus) |
Aves | PDHB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PDHB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdhb 30 |
|
||
Str.4760 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.372 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pdhb 30 31 |
|
OneToOne | |
wufc76a05 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010421 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11876 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C04C3.3 32 |
|
|
|
pdhb-1 30 31 |
|
ManyToMany | |||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09603g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PDB1 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR167C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MAB1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1955 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0536000 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.6624 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.433 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10514 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03004 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pdb1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4730 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638449 | Uncertain Significance: Pyruvate dehydrogenase E1-beta deficiency | 58,428,152(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
668481 | Conflicting Interpretations: Pyruvate dehydrogenase E1-beta deficiency; not provided | 58,433,858(-) | A/G | ||
669530 | Benign: not provided | 58,432,200(-) | A/C | INTRON_VARIANT | |
669535 | Benign: not provided | 58,431,287(-) | G/A | INTRON_VARIANT | |
669536 | Benign: not provided | 58,429,536(-) | T/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate dehydrogenase e1-beta deficiency |
|
|
marshall-smith syndrome |
|
|
lactic acidosis |
|
|
pyruvate dehydrogenase e1-alpha deficiency |
|
|
leigh syndrome |
|
|