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Gene id 5162
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol PDHB   Gene   UCSC   Ensembl
Aliases PDHBD, PDHE1-B, PDHE1B, PHE1B
Gene name pyruvate dehydrogenase E1 subunit beta
Alternate names pyruvate dehydrogenase E1 component subunit beta, mitochondrial, epididymis secretory sperm binding protein, pyruvate dehydrogenase (lipoamide) beta, pyruvate dehydrogenase E1 beta subunit, pyruvate dehydrogenase, E1 beta polypeptide,
Gene location 3p14.3 (58433851: 58427629)     Exons: 3     NC_000003.12
Gene summary(Entrez) 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
OMIM 179060

Protein Summary

Protein general information P11177  

Name: Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (PDHE1 B) (EC 1.2.4.1)

Length: 359  Mass: 39233

Sequence MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEVAQYDGAYKVSRGLWK
KYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAIDQVINSAAKTYYMSGGLQPVPIVFRGPNGA
SAGVAAQHSQCFAAWYGHCPGLKVVSPWNSEDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPI
GKAKIERQGTHITVVSHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG
VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI
Structural information
Interpro:  IPR027110  IPR029061  IPR009014  IPR005475  IPR033248  

PDB:  
1NI4 2OZL 3EXE 3EXF 3EXG 3EXH 3EXI 6CER 6CFO
PDBsum:   1NI4 2OZL 3EXE 3EXF 3EXG 3EXH 3EXI 6CER 6CFO

DIP:  

37651

MINT:  
STRING:   ENSP00000307241
Other Databases GeneCards:  PDHB  Malacards:  PDHB

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0004739 pyruvate dehydrogenase (a
cetyl-transferring) activ
ity
IBA molecular function
GO:0005967 mitochondrial pyruvate de
hydrogenase complex
IBA cellular component
GO:0006086 acetyl-CoA biosynthetic p
rocess from pyruvate
IBA biological process
GO:0045254 pyruvate dehydrogenase co
mplex
IDA cellular component
GO:0006086 acetyl-CoA biosynthetic p
rocess from pyruvate
IDA biological process
GO:0004739 pyruvate dehydrogenase (a
cetyl-transferring) activ
ity
IEA molecular function
GO:0003824 catalytic activity
IEA molecular function
GO:0006086 acetyl-CoA biosynthetic p
rocess from pyruvate
IEA biological process
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological process
GO:0055114 oxidation-reduction proce
ss
IEA biological process
GO:0006006 glucose metabolic process
IEA biological process
GO:0006099 tricarboxylic acid cycle
IEA biological process
GO:0016491 oxidoreductase activity
IEA molecular function
GO:0005739 mitochondrion
IEA cellular component
GO:0004739 pyruvate dehydrogenase (a
cetyl-transferring) activ
ity
TAS molecular function
GO:0006099 tricarboxylic acid cycle
TAS biological process
GO:0004739 pyruvate dehydrogenase (a
cetyl-transferring) activ
ity
IEA molecular function
GO:0061732 mitochondrial acetyl-CoA
biosynthetic process from
pyruvate
IC biological process
GO:0034604 pyruvate dehydrogenase (N
AD+) activity
IDA contributes to
GO:0005759 mitochondrial matrix
TAS cellular component
GO:0005759 mitochondrial matrix
TAS cellular component
GO:0005759 mitochondrial matrix
TAS cellular component
GO:0005759 mitochondrial matrix
TAS cellular component
GO:0006090 pyruvate metabolic proces
s
TAS biological process
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005759 mitochondrial matrix
IEA cellular component
GO:0005739 mitochondrion
IDA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0004739 pyruvate dehydrogenase (a
cetyl-transferring) activ
ity
IDA molecular function
GO:0005634 nucleus
HDA cellular component

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa01200Carbon metabolism
hsa04922Glucagon signaling pathway
hsa04066HIF-1 signaling pathway
hsa00010Glycolysis / Gluconeogenesis
hsa05230Central carbon metabolism in cancer
hsa00620Pyruvate metabolism
hsa00020Citrate cycle
Associated diseases References
Pyruvate dehydrogenase complex deficiency KEGG:H00072
Pyruvate dehydrogenase E1-beta deficiency KEGG:H01998
Pyruvate dehydrogenase complex deficiency KEGG:H00072
Pyruvate dehydrogenase E1-beta deficiency KEGG:H01998
pyruvate decarboxylase deficiency PMID:15138885
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract