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FLASH GENE
Symbol PDHB contributors: mct/npt - updated : 29-04-2013
HGNC name pyruvate dehydrogenase (lipoamide) beta
HGNC id 8808
Corresponding disease
PDHB pyruvate dehydrogenase deficiency, eta polypeptide
Location 3p14.2      Physical location : 58.413.357 - 58.419.579
Synonym symbol(s) PHE1B, PDHE1B, DKFZp564K0164
EC.number 1.2.4.1
DNA
TYPE functioning gene
STRUCTURE 6.22 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
RAP140 3p21.31 retinoblastoma-associated protein 140 ARHGEF3 3p21-p13 Rho guanine nucleotide exchange factor (GEF) 3 SPATA12 3p21.2 spermatogenesis associated 12 IL17RD 3p21.1 interleukin 17 receptor D HESX1 3p21.2-p21.1 homeo box (expressed in ES cells) 1 APPL 3p21.1-p14.3 homeo box (expressed in ES cells) 1 ASB14 3p21.1 ankyrin repeat and SOCS box-containing 14 FLJ40427 3p21.2 hypothetical protein FLJ40427 FLJ44290 3p21.2 FLJ44290 protein DKFZp667B1218 3p21.2 hypothetical protein DKFZp667B1218 ARF4 3p21.2-p21.1 ADP-ribosylation factor 4 FLJ34969 3p21.2 hypothetical protein FLJ34969 SLMAP 3p21.2-p14.3 sarcolemma associated protein LOC344797 3p21.2 similar to peptidylprolyl isomerase A FLNB 3p14.3 filamin B, beta (actin binding protein 278) DNASE1L3 3p21.1-p14.3 deoxyribonuclease I-like 3 ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D FLJ42117 3p21.2 FLJ42117 protein LOC339902 3p21.2 hypothetical LOC339902 NPCR 3p21.1 nasopharyngeal carcinoma-related protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 1544 39.2 359 - Okajima (2008)
11 - 1490 - 341 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivepharynx   highly
Endocrineadrenal gland   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 male systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • catalyzing the overall conversion of pyruvate to acetyl-Coa
  • involved in tricarboxylic acid cycle, glucose metabolism
  • involved in fatty acid oxidation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • E1 beta subunit of the complex forming an heterotetramer alpha2beta2 bound to two TPP (thiamine-pyrophosphate) one each bridging E1 alpha and E1 beta to form an active site catalyzing the irreversible decarboxylation of pyruvate to acetyl-CoA
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • thiamine pyrophosphate
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PDHB
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS