Aliases for PDHB Gene
Aliases for PDHB Gene
External Ids for PDHB Gene
- HGNC: 8808
- Entrez Gene: 5162
- Ensembl: ENSG00000168291
- OMIM: 179060
- UniProtKB: P11177
Previous GeneCards Identifiers for PDHB Gene
- GC03M057277
- GC03M057782
- GC03M058268
- GC03M058370
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 Beta Subunit) 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 Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 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
- Monarch Initiative
- Search for PDHB at DataMed
- Search for PDHB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDHB Gene
Genomics for PDHB Gene
GeneHancer (GH) Regulatory Elements for PDHB Gene
Promoters and enhancers for PDHB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PDHB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PDHB gene promoter:
Regulatory Element Products
Genomic Locations for PDHB Gene
Genomic Locations for PDHB Gene
- chr3:58,427,630-58,433,857
- (GRCh38/hg38)
- Size:
- 6,228 bases
- Orientation:
- Minus strand
- chr3:58,413,357-58,419,584
- (GRCh37/hg19)
Genomic View for PDHB Gene
Genes around PDHB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.3 by Ensembl
- 3p14.3 by Entrez Gene
- 3p14.3 by HGNC
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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PDHB
- Novus Biologicals Antibodies for PDHB
-
Abcam antibodies for PDHB
-
Cloud-Clone Corp. Antibodies for PDHB
- Invitrogen Antibodies for PDHB
- GeneTex PDHB antibody for PDHB
Protein Products
-
OriGene Purified Proteins for PDHB
- Search Origene for MassSpec and Protein Over-expression Lysates for PDHB
- Origene Custom Protein Services for PDHB
-
Cloud-Clone Corp. Proteins for PDHB
- Search GeneTex for Proteins for PDHB
-
Abcam proteins for PDHB
Assay Products
-
Cloud-Clone Corp. Assay Kits for PDHB
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for PDHB Gene
Graphical View of Domain Structure for InterPro Entry
No data available for 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
Phenotypes From GWAS Catalog for PDHB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004738 | pyruvate dehydrogenase activity | IDA | 19081061 |
| GO:0004739 | pyruvate dehydrogenase (acetyl-transferring) activity | IEA,TAS | -- |
| 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
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PDHB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PDHB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PDHB gene
- Search ViGene Biosciences for PDHB
CRISPR Products
-
OriGene CRISPR knockouts for PDHB
- genomics-online: gRNA clones - Search results for available PDHB gene related products
- Applied Biological Materials CRISPR for PDHB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDHB
- GenScript: Design CRISPR guide RNA sequences for PDHB
miRNA for PDHB Gene
- miRTarBase miRNAs that target PDHB
-
- 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
- Search ViGene Biosciences for PDHB
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for PDHB
- Browse OriGene Inhibitory RNA Products For PDHB
- genomics-online: shRNA clones - Search results for available PDHB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PDHB gene
Clone Products
- Sino Biological Human cDNA Clone for PDHB
- VectorBuilder custom plasmid, inducible vectors for PDHB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PDHB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PDHB gene related products
- orf clones - Search results for available PDHB gene related products
- Applied Biological Materials Clones for PDHB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PDHB
-
ViGene Biosciences adenoviral particle packaged cDNA for PDHB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PDHB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PDHB gene
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 |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 1 |
- Mitochondria (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA,IDA | 21630459 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0045254 | pyruvate dehydrogenase complex | IDA | 19081061 |
Pathways & Interactions for PDHB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Citrate cycle (TCA cycle) | ||
| 2 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
| 3 | Glucose metabolism | ||
| 4 | Metabolism |
.37
|
|
| 5 | Carbon metabolism | ||
Pathways by source for PDHB Gene
3 BioSystems pathways for PDHB Gene
8 KEGG pathways for PDHB Gene
Interacting Proteins for PDHB Gene
Selected Interacting proteins:
ENSP00000307241
P11177-ODPB_HUMAN
for PDHB Gene via
STRING
IID
UniProtKB
MINT
| 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 | IDA | 19081061 |
| GO:0006090 | pyruvate metabolic process | TAS | -- |
| GO:0006099 | tricarboxylic acid cycle | TAS,IDA | 19081061 |
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 |
|
|
||||
| Thiamine pyrophosphate |
|
154-87-0 |
|
Transcripts for PDHB Gene
mRNA/cDNA for PDHB Gene
- (3) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (538) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PDHB Gene
CRISPR Products
-
OriGene CRISPR knockouts for PDHB
- genomics-online: gRNA clones - Search results for available PDHB gene related products
- Applied Biological Materials CRISPR for PDHB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDHB
- GenScript: Design CRISPR guide RNA sequences for PDHB
miRNA Products
- Search ViGene Biosciences for PDHB
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for PDHB
- Browse OriGene Inhibitory RNA Products For PDHB
- genomics-online: shRNA clones - Search results for available PDHB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PDHB gene
Clone Products
- Sino Biological Human cDNA Clone for PDHB
- VectorBuilder custom plasmid, inducible vectors for PDHB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PDHB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PDHB gene related products
- orf clones - Search results for available PDHB gene related products
- Applied Biological Materials Clones for PDHB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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, PaxDb, MaxQB, and MOPED for PDHB Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PDHB Gene:
PDHBSOURCE GeneReport for Unigene cluster for PDHB Gene:
Hs.161357Evidence on tissue expression from TISSUES for PDHB Gene
- Nervous system(4.9)
- Lung(4.5)
- Heart(4.4)
- Liver(4.4)
- Muscle(2.5)
- Kidney(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
-
OriGene qPCR primer pairs for PDHB
-
OriGene qPCR primer pairs and template standards for PDHB
- genomics-online: primer clones - Search results for available PDHB gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PDHB 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| PDHB 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | PDHB 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PDHB 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PDHB 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pdhb 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pdhb 33 |
|
||
| chicken (Gallus gallus) |
Aves | PDHB 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PDHB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pdhb 33 |
|
||
| Str.4760 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.372 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pdhb 34 33 |
|
OneToOne | |
| wufc76a05 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010421 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11876 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C04C3.3 35 |
|
|
|
| pdhb-1 33 34 |
|
||||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09603g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PDB1 33 34 36 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAR167C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MAB1 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1955 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0536000 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.6624 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.433 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10514 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03004 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pdb1 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4730 33 |
|
- 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)
Paralogs for PDHB Gene
(1) SIMAP similar genes for PDHB Gene using alignment to 3 proteins:
Variants for PDHB Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1126551 | likely-benign, benign, not specified, Pyruvate dehydrogenase complex deficiency | 58,430,808(-) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1126722 | benign, Pyruvate dehydrogenase complex deficiency | 58,427,791(-) | T/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1126735 | benign, Pyruvate dehydrogenase complex deficiency | 58,427,681(-) | A/G/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1126737 | benign, Pyruvate dehydrogenase complex deficiency | 58,427,678(-) | T/C | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs11542399 | benign, uncertain-significance, not specified, Pyruvate dehydrogenase complex deficiency | 58,431,949(-) | A/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
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 Assay Products
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
(3) MalaCards diseases for PDHB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pyruvate dehydrogenase e1-beta deficiency |
|
|
| pyruvate dehydrogenase e1-alpha deficiency |
|
|
| leigh syndrome |
|
|
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 mutations 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
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for PDHB Gene
- 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 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit. (PMID: 17923481) Han Z … Stacpoole PW (The Journal of biological chemistry 2008) 2 3 58
- 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 58
- 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 58
Products for PDHB Gene
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Sources for PDHB Gene
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