PDHB (pyruvate dehydrogenase E1 subunit beta)

2017-04-01  

Identity

HGNC
LOCATION
3p14.3
LOCUSID
ALIAS
PDHBD,PDHE1-B,PDHE1B,PHE1B
FUSION GENES

Other Information

Locus ID:

NCBI: 5162
MIM: 179060
HGNC: 8808
Ensembl: ENSG00000168291

Variants:

dbSNP: 5162
ClinVar: 5162
TCGA: ENSG00000168291
COSMIC: PDHB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168291ENST00000302746P11177
ENSG00000168291ENST00000302746A0A384MDR8
ENSG00000168291ENST00000383714P11177
ENSG00000168291ENST00000469364F8WF02
ENSG00000168291ENST00000474765C9J634
ENSG00000168291ENST00000485460P11177

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGhsa_M00307
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGM00307
HIF-1 signaling pathwayKEGGhsa04066
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
257204942015ATP6AP2/(pro)renin receptor contributes to glucose metabolism via stabilizing the pyruvate dehydrogenase E1 β subunit.14
179234812008Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.11
181646392008Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.9
250889992014Prolyl-hydroxylase PHD3 interacts with pyruvate dehydrogenase (PDH)-E1β and regulates the cellular PDH activity.9
199245632009PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.8
294364272018Pyruvate Dehydrogenase PDH-E1β Controls Tumor Progression by Altering the Metabolic Status of Cancer Cells.7
182066512008Binding of pyruvate dehydrogenase to the core of the human pyruvate dehydrogenase complex.2
268571472016Pyruvate dehydrogenase B promoted the growth and migration of the nasopharyngeal carcinoma cells.2

Citation

Dessen P

PDHB (pyruvate dehydrogenase E1 subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56757/pdhb