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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), dihy... See more...
Aliases for PDHB Gene
Aliases for PDHB Gene
External Ids for PDHB Gene
- HGNC: 8808
- NCBI Entrez Gene: 5162
- Ensembl: ENSG00000168291
- OMIM®: 179060
- UniProtKB/Swiss-Prot: P11177
Previous GeneCards Identifiers for PDHB Gene
- GC03M057277
- GC03M057782
- GC03M058268
- GC03M058370
- GC03M058388
Summaries 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 E1 Subunit 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 Signaling by Retinoic Acid and Carbon metabolism. 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.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for PDHB Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDHB Gene
Genomics for PDHB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PDHB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PDHB on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDHB
- Top Transcription factor binding sites by QIAGEN in the PDHB gene promoter:
-
- ARP-1
- FOXJ2 (long isoform)
- IRF-7A
- Roaz
- SREBP-1a
- SREBP-1b
- SREBP-1c
- SRF
- SRF (504 AA)
- STAT3
Genomic Locations for PDHB Gene
Latest Assembly
- chr3:58,427,630-58,433,857
- (GRCh38/hg38)
- Size:
- 6,228 bases
- Orientation:
- Minus strand
Previous Assembly
- chr3:58,413,357-58,419,559
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 6,203 bases
- Orientation:
- Minus strand
Genomic View for PDHB Gene
Genes around PDHB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.3 by HGNC
- 3p14.3 by Entrez Gene
- 3p14.3 by Ensembl
PDHB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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 (PubMed:12651851, PubMed:17474719, PubMed:19081061). 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) (PubMed:14638692). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules (PubMed:14638692). Interacts with DLAT (PubMed:20160912).
Three dimensional structures from OCA and Proteopedia for PDHB Gene
Protein Expression for PDHB Gene
Selected DME Specific Peptides for PDHB Gene
- P11177:
-
- GEEVAQYDGAYK
- PQVKDIIFA
- RVTGADVP
- RIIDTPI
- GLWKKYGD
- EAQSKDFLIPIGKAKIERQGTH
- GLRPICEFM
- LENELMYGV
- EMGFAGIAVGAA
- PIVFRGPNGA
- AIRDNNPV
- PGLKVVSP
- AQHSQCFAAWYG
- NFSMQAID
- AKGLIKS
Post-translational modifications for PDHB Gene
Other Protein References for PDHB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ PDHB Antibody
-
Custom Antibody ServicesOriGene Antibodies for PDHB
- Novus Biologicals Antibodies for PDHB
-
Abcam antibodies for PDHB
- Invitrogen Antibodies for PDHB (AFLGC-PDHB)
Protein products for research
-
OriGene Purified Proteins for PDHB
- Search Origene for MassSpec and Protein Over-expression Lysates for PDHB
- Origene Custom Protein Services for PDHB
-
Abcam proteins for PDHB
Assay products for research
- antibodies-online: Show 30 available PDHB Elisa Kits ranked by validation data
- Compare Top PDHB Elisa Kits
-
Quality Products:
Domains & Families for PDHB Gene
Gene Families for PDHB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PDHB Gene
- InterPro:
- Blocks:
-
- Transketolase, central region
- Transketolase, C terminal
Suggested Antigen Peptide Sequences for PDHB Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52988, highly similar to Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (EC 1.2.4.1) (B4DDD7_HUMAN)
- Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (ODPB_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDHB Gene
Function for PDHB Gene
Molecular function for PDHB Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) + pyruvate = [dihydrolipoyllysine-residue acetyltransferase]-(R)-N(6)-(S(8)-acetyldihydrolipoyl)-L-lysine + CO2; Xref=Rhea:RHEA:19189, Rhea:RHEA-COMP:10480, Rhea:RHEA-COMP:10481, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:83099, ChEBI:CHEBI:83111; EC=1.2.4.1; Evidence={ECO:0000269|PubMed:19081061};.
- GENATLAS Biochemistry:
- pyruvate dehydrogenase,E1 beta subunit
Enzyme Numbers (IUBMB) for PDHB Gene
Phenotypes From GWAS Catalog for PDHB Gene
| 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 |
Phenotypes for PDHB Gene
- MGI mutant phenotypes for PDHB:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PDHB:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PDHB - Starting at $85 >
- * PDHB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PDHB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDHB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDHB
miRNA for PDHB Gene
- miRTarBase miRNAs that target PDHB
-
- mmu-miR-181a-5p (MIRT014034)
- hsa-miR-98-5p (MIRT027487)
- hsa-miR-1260b (MIRT052771)
- hsa-miR-4482-3p (MIRT609550)
- hsa-miR-7159-3p (MIRT609551)
- hsa-miR-627-3p (MIRT609552)
- hsa-miR-3674 (MIRT635009)
- hsa-miR-6844 (MIRT635010)
- hsa-miR-4732-5p (MIRT635011)
- hsa-miR-6832-5p (MIRT635012)
- hsa-miR-5089-5p (MIRT687238)
- hsa-miR-5589-5p (MIRT687239)
- hsa-miR-4731-5p (MIRT687240)
- hsa-miR-6778-3p (MIRT687241)
- hsa-miR-610 (MIRT687242)
- hsa-miR-6506-5p (MIRT687243)
- hsa-miR-619-5p (MIRT687244)
- hsa-miR-150-5p (MIRT687245)
- hsa-miR-6747-3p (MIRT687246)
- hsa-miR-6752-3p (MIRT687247)
- hsa-miR-186-3p (MIRT687248)
- hsa-miR-520h (MIRT687249)
- hsa-miR-520g-3p (MIRT687250)
- hsa-miR-556-5p (MIRT687251)
- hsa-miR-1295b-3p (MIRT687252)
- hsa-miR-512-3p (MIRT687253)
- hsa-miR-520e (MIRT687254)
- hsa-miR-520d-3p (MIRT687255)
- hsa-miR-520c-3p (MIRT687256)
- hsa-miR-520b (MIRT687257)
- hsa-miR-520a-3p (MIRT687258)
- hsa-miR-373-3p (MIRT687259)
- hsa-miR-372-3p (MIRT687260)
- hsa-miR-302e (MIRT687261)
- hsa-miR-302d-3p (MIRT687262)
- hsa-miR-302c-3p (MIRT687263)
- hsa-miR-302b-3p (MIRT687264)
- hsa-miR-302a-3p (MIRT687265)
- hsa-miR-93-5p (MIRT687266)
- hsa-miR-526b-3p (MIRT687267)
- hsa-miR-519d-3p (MIRT687268)
- hsa-miR-20b-5p (MIRT687269)
- hsa-miR-20a-5p (MIRT687270)
- hsa-miR-17-5p (MIRT687271)
- hsa-miR-106b-5p (MIRT687272)
- hsa-miR-106a-5p (MIRT687273)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDHB
- Browse OriGene Inhibitory RNA Products For PDHB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHB
Clone products for research
- Applied Biological Materials (abm): Clones for PDHB - Starting at $45 >
- * PDHB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PDHB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDHB
Cell Lines for research
-
Horizon Cell Lines for PDHB
No data available for 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
- Nucleoplasm (1)
| 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 |
Pathways & Interactions for PDHB Gene
Pathways by source for PDHB Gene
3 BioSystems pathways for PDHB Gene
9 KEGG pathways for PDHB Gene
Interacting Proteins for PDHB Gene
Selected Interacting proteins:
P11177-ODPB_HUMAN
ENSP00000307241
for PDHB Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PDHB
| 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 | -- |
No data available for SIGNOR curated interactions for PDHB Gene
Drugs & Compounds for PDHB Gene
| 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 |
|
|||
| acetyl-coa |
|
72-89-9 |
|
|||
| S-Acetyldihydrolipoamide-E |
|
|
Transcripts for PDHB Gene
mRNA/cDNA for PDHB Gene
- 3 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302746 1507 nts (view in UCSC)
- ENST00000383714 1478 nts (view in UCSC)
- ENST00000461692 1535 nts (view in UCSC)
- ENST00000469364 1616 nts (view in UCSC)
- ENST00000469827 586 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PDHB - Starting at $85 >
- * PDHB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PDHB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDHB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDHB
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDHB
- Browse OriGene Inhibitory RNA Products For PDHB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHB
Clone products for research
- Applied Biological Materials (abm): Clones for PDHB - Starting at $45 >
- * PDHB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PDHB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDHB
| 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
Expression for PDHB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Heart (10.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDHB Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDHB
SOURCE GeneReport for Unigene cluster for PDHB Gene:
Hs.161357Evidence on tissue expression from TISSUES for PDHB Gene
- Nervous system(4.9)
- Heart(4.8)
- Lung(4.6)
- Liver(4.6)
- Muscle(2.9)
- Skin(2.8)
- Kidney(2.6)
- Blood(2.5)
- Pancreas(2.4)
- Eye(2.3)
- Intestine(2.2)
- Spleen(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PDHB Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- head
Primer products for research
-
OriGene qPCR primer pairs for PDHB
-
OriGene qPCR primer pairs and template standards for PDHB
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PDHB 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| PDHB 29 |
|
||||
| Cow (Bos Taurus) |
Mammalia | PDHB 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PDHB 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PDHB 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pdhb 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pdhb 29 |
|
||
| Chicken (Gallus gallus) |
Aves | PDHB 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PDHB 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdhb 29 |
|
||
| Str.4760 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.372 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pdhb 29 30 |
|
OneToOne | |
| wufc76a05 29 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010421 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11876 29 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | C04C3.3 31 |
|
|
|
| pdhb-1 29 30 |
|
ManyToMany | |||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09603g 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PDB1 29 30 32 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR167C 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MAB1 29 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1955 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0536000 29 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.6624 29 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.433 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10514 30 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03004 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pdb1 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4730 29 |
|
- Species where no ortholog for PDHB was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PDHB: view image
- Alliance of Genome Resources:
- Additional Orthologs for PDHB
Paralogs for PDHB Gene
Variants for PDHB Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDHB Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1036385 | Uncertain Significance: Pyruvate dehydrogenase E1-beta deficiency | 58,433,772(-) |
C/T NM_000925.4(PDHB):c.38G>A (p.Arg13Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1037191 | Uncertain Significance: Pyruvate dehydrogenase E1-beta deficiency | 58,431,604(-) |
C/T NM_000925.4(PDHB):c.292G>A (p.Gly98Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1038845 | Uncertain Significance: Pyruvate dehydrogenase E1-beta deficiency | 58,428,057(-) |
T/C NM_000925.4(PDHB):c.1057A>G (p.Ile353Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 839569 | Pathogenic: Pyruvate dehydrogenase E1-beta deficiency; not provided | 58,431,595(-) |
T/C NM_000925.4(PDHB):c.301A>G (p.Met101Val) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 899975 | Uncertain Significance: Pyruvate dehydrogenase E1-beta deficiency | 58,427,861(-) |
G/A NM_000925.4(PDHB):c.*173C>T |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for PDHB Gene
SNP Genotyping and Copy Number Assays for research
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pyruvate dehydrogenase e1-beta deficiency |
|
|
| pyruvate dehydrogenase e1-alpha deficiency |
|
|
| pyruvate dehydrogenase phosphatase deficiency |
|
|
| marshall-smith syndrome |
|
|
| lactic acidosis |
|
|
Search PDHB in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Genatlas disease for PDHB Gene
ataxia,intermittent,congenital lactate acidosis,progressive neurologic dysfunction (PDH complex deficiency)
Additional Disease Information for PDHB
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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- Open Targets Platform
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Publications for PDHB Gene
- Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. (PMID: 18164639) Okajima K … Kerr DS (Molecular genetics and metabolism 2008) 3 22 72
- Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. (PMID: 15138885) Brown RM … Brown GK (Human genetics 2004) 3 4 72
- Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. (PMID: 2376596) Huh TL … Song BJ (The Journal of biological chemistry 1990) 3 4 22
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
- Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops. (PMID: 19081061) Kato M … Chuang DT (Structure (London, England : 1993) 2008) 3 4
ExternalLinks
Products for PDHB Gene
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDHB
Sources for PDHB Gene
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