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 |
|
Other Databases |
GeneCards: PDHB  Malacards: PDHB |
|
GO accession | Term name | Evidence code | Go 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 |
|
|
|
|
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 |
|
|
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 |
|