ENSG00000168291


Homo sapiens

Features
Gene ID: ENSG00000168291
  
Biological name :PDHB
  
Synonyms : P11177 / PDHB / pyruvate dehydrogenase E1 beta subunit
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p14.3
Gene start: 58427630
Gene end: 58433857
  
Corresponding Affymetrix probe sets: 208911_s_at (Human Genome U133 Plus 2.0 Array)   211023_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000307241
Ensembl peptide - ENSP00000417267
Ensembl peptide - ENSP00000418448
Ensembl peptide - ENSP00000419580
Ensembl peptide - ENSP00000373220
NCBI entrez gene - 5162     See in Manteia.
OMIM - 179060
RefSeq - NM_000925
RefSeq - NM_001315536
RefSeq - NM_001173468
RefSeq Peptide - NP_000916
RefSeq Peptide - NP_001302465
RefSeq Peptide - NP_001166939
swissprot - P11177
swissprot - C9J634
swissprot - F8WF02
Ensembl - ENSG00000168291
  
Related genetic diseases (OMIM): 614111 - Pyruvate dehydrogenase E1-beta deficiency, 614111
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdhbENSDARG00000021346Danio rerio
 PDHBENSGALG00000029576Gallus gallus
 PdhbENSMUSG00000021748Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCKDHB / P21953 / branched chain keto acid dehydrogenase E1 subunit betaENSG0000008312330


Protein motifs (from Interpro)
Interpro ID Name
 IPR005475  Transketolase-like, pyrimidine-binding domain
 IPR009014  Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
 IPR029061  Thiamin diphosphate-binding fold
 IPR033248  Transketolase, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0006086 acetyl-CoA biosynthetic process from pyruvate IDA
 biological_processGO:0006090 pyruvate metabolic process TAS
 biological_processGO:0006099 tricarboxylic acid cycle TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS
 biological_processGO:0034641 cellular nitrogen compound metabolic process TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0061732 mitochondrial acetyl-CoA biosynthetic process from pyruvate IC
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0045254 pyruvate dehydrogenase complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004738 pyruvate dehydrogenase activity IDA
 molecular_functionGO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0034604 pyruvate dehydrogenase (NAD+) activity IDA


Pathways (from Reactome)
Pathway description
Regulation of pyruvate dehydrogenase (PDH) complex
Glyoxylate metabolism and glycine degradation
Signaling by Retinoic Acid
Pyruvate metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0003128 Lactic acidemia "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004799 PDK4 / Q16654 / pyruvate dehydrogenase kinase 4  / reaction
 ENSG00000005882 PDK2 / Q15119 / pyruvate dehydrogenase kinase 2  / reaction
 ENSG00000110435 PDHX / O00330 / pyruvate dehydrogenase complex component X  / complex
 ENSG00000091140 DLD / P09622 / dihydrolipoamide dehydrogenase  / complex
 ENSG00000140905 GCSH / P23434 / glycine cleavage system protein H  / reaction
 ENSG00000168291 PDHB / P11177 / pyruvate dehydrogenase E1 beta subunit  / complex
 ENSG00000150768 DLAT / P10515 / dihydrolipoamide S-acetyltransferase  / complex
 ENSG00000163114 PDHA2 / P29803 / pyruvate dehydrogenase E1 alpha 2 subunit  / complex
 ENSG00000152256 PDK1 / Q15118 / pyruvate dehydrogenase kinase 1  / reaction
 ENSG00000131828 PDHA1 / P08559 / pyruvate dehydrogenase E1 alpha 1 subunit  / complex
 ENSG00000067992 PDK3 / Q15120 / pyruvate dehydrogenase kinase 3  / reaction






 

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