country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

PDHB - pyruvate dehydrogenase E1 subunit beta Gene

Also Known as PDHBD; PHE1B; E1beta; PDHE1B; PDHE1-B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5162

About PDHB

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,427,630-58,433,832 (from NCBI)

This gene has 10 transcripts (splice variants), 224 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues.

Summary

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 (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

PDHB Products (3)

mRNA	Protein	Name
NM_000925.4	NP_000916.2	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor
NM_001173468.2	NP_001166939.1	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor
NM_001315536.2	NP_001302465.1	pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12651851	GOA
contributes to pyruvate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	18164639	GOA
contributes to pyruvate dehydrogenase (acetyl-transferring) activity	IDA IDA: Inferred from direct assay	19081061	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in acetyl-CoA biosynthetic process from pyruvate	IDA IDA: Inferred from direct assay	19081061	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in mitochondrion	IDA IDA: Inferred from direct assay	19081061	GOA
part of pyruvate dehydrogenase complex	IDA IDA: Inferred from direct assay	19081061	GOA
part of pyruvate dehydrogenase complex	IPI IPI: Inferred from physical interaction	19240034	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDHB Protein Structure

Transket_pyr

Transketolase_C

0
100
200
300
359 a.a.

Protein Preferred Names	Protein Names
pyruvate dehydrogenase E1 component subunit beta, mitochondrial	epididymis secretory sperm binding protein

PDHB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDHB	P11177	DLAT	Homo sapiens	P10515	Anti Tag CoIP	33961781
Intra	PDHB	P11177	DLAT	Homo sapiens	P10515	SPR	18206651
Intra	PDHB	P11177	PDHA1	Homo sapiens	P08559	Anti Tag CoIP	33961781
Intra	PDHB	P11177	PDHA1	Homo sapiens	P08559	X-Ray Diffraction	12651851

Cross: Cross-species interaction Intra: Intraspecies interaction

PDHB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80291	Pyruvate Dehydrogenase E1 beta subunit Antibody (YA114)	WB, IHC-P, FC, IP	Human, Mouse, Rat
HY-P82629	Pyruvate Dehydrogenase E1 beta Antibody (YA2374)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Pyruvate Dehydrogenase E1-Beta Deficiency	PDHBD Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency Pdh Deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Sotos Syndrome 2	Sotos2 Sotos Syndrome, Type 2
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10263	PDHB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21403	Pdhb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27922	Pdhb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PDHB	RGD	RGD:1359146
Mus musculus	PDHB	MGD	MGI:1915513
Macaca mulatta	PDHB	VGNC	VGNC:75931
Felis catus	PDHB	VGNC	VGNC:68774
Bos taurus	PDHB	VGNC	VGNC:49151
Others	PDHB	NCBI