PDHA1 - pyruvate dehydrogenase E1 subunit alpha 1 Gene

Also Known as PDHA; PDHAD; PHE1A; E1alpha; PDHCE1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5160

About PDHA1

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:19,343,927-19,361,718 (from NCBI)

This gene has 13 transcripts (splice variants), 311 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 64.2), fat (RPKM 35.1) 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 CO(2), 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 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

PDHA1 Products (4)

mRNA	Protein	Name
NM_000284.4	NP_000275.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor
NM_001173454.2	NP_001166925.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor
NM_001173455.2	NP_001166926.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor
NM_001173456.2	NP_001166927.1	pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7782287	GOA
contributes to pyruvate dehydrogenase (acetyl-transferring) activity	IDA IDA: Inferred from direct assay	19081061	GOA

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

Cellular Component GO Annotation	Evidence	Verweise	Source
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

PDHA1 Protein Structure

E1_dh

0
100
200
300
390 a.a.

Protein Preferred Names	Protein Names
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial	PDHE1-A type I

PDHA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PDHA1	P08559	PDHB	Homo sapiens	P11177	Crosslink	29128334
Intra	PDHA1	P08559	IMMT	Homo sapiens	Q16891	Crosslink	29128334

Cross: Cross-species interaction Intra: Intraspecies interaction

PDHA1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P80878	Pyruvate Dehydrogenase E1 alpha Antibody (YA681)	WB, ICC/IF	Human, Mouse
HY-P80878A	Pyruvate Dehydrogenase E1 alpha Antibody (YA681)(PBS only)	WB, ICC/IF	Human, Mouse
HY-P810637	Phospho-PDHA1 (Ser293) Antibody (YA9899)	WB, ICC/IF, IHC-P	Human, Mouse, Rat
HY-P84011	Pyruvate Dehydrogenase E1 alpha Antibody (YA3708)	WB, IP, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P84011A	Pyruvate Dehydrogenase E1 alpha Antibody (YA3708)(PBS only)	WB, IP, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P85449	Pyruvate Dehydrogenase E1 alpha Antibody (YA5141)	WB, ICC/IF	Human, Mouse, Rat, Bovine, Dog, Pig
HY-P85504	Pyruvate Dehydrogenase E1 alpha Antibody (YA5196)	WB, ICC/IF	Human, Mouse
HY-P86544	Pyruvate Dehydrogenase E1 alpha Antibody (YA6236)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Coffin-Lowry Syndrome	CLS Coffin Syndrome 1 Coffin Syndrome Intellectual Disability With Osteocartilaginous Abnormalities Dwarfism, Lean Spastic Type Lean Spastic Dwarfism Mental Retardation With Osteocartilaginous Abnormalities Coffin Lowry Syndrome
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
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
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lacticacidemia Due To Pdx1 Deficiency PDHXD Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex 2-Oxoglutarate Complex Deficiency Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency Diaphorase Deficiency Dihydrolipoyl Dehydrogenase Deficiency Glycine Cleavage System L Protein Deficiency Lipoamide Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Component E3 Deficiency Pyruvate Dehydrogenase Protein X Component Deficiency Nadh Cytochrome B5 Reductase Deficiency
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Guillain-Barre Syndrome	Guillain-Barré Syndrome Acute Inflammatory Polyneuropathy Gbs Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Infective Polyneuritis Acute Inflammatory Demyelinating Polyradiculopathy Acute Postinfectious Polyneuropathy Infectious Neuronitis Post-Infectious Polyneuritis Postinfectious Polyneuritis Acute Autoimmune Peripheral Neuropathy Acute Immune-Mediated Polyneuropathy Acute Inflammatory Neuropathy Guillain-Barré-Strohl Syndrome Landry'S Ascending Paralysis Landry-Guillain-Barre-Strohl Syndrome Post-Infective Polyneuritis Acute Infectious Polyneuritis Fisher Syndrome Landry-Guillain-Barre Syndrome Guillain-Barre-Strohl Syndrome Variant Of Guillain-Barre Syndrome Variant Of Gbs Aidp Acute Idiopathic Demyelinating Polyneuropathy Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Miller Fisher Syndrome
Bile Acid Synthesis Defect, Congenital, 1	CBAS1 Congenital Bile Acid Synthesis Defect 1 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Congenital Bile Acid Synthesis Defect Type 1 Basd1 Congenital Bile Acid Synthesis Defect, Type 1 3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of 3beta-Hsdh Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Neonatal Progressive Intrahepatic Cholestasis Pfic4 Progressive Familial Intrahepatic Cholestasis Type 4 Bile Acid Synthesis Defect, Congenital, Type 1 Cholestasis, Progressive Familial Intrahepatic 4
Urocanase Deficiency	Encephalopathy Due To Urocanase Deficiency Urocanate Hydratase Deficiency Urocanic Aciduria UROCD High Urine Urocanic Acid Levels
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS24175	Pdha1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10261	PDHA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17710	Pdha1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PDHA1	VGNC	VGNC:56948
Rattus norvegicus	PDHA1	RGD	RGD:3286
Macaca mulatta	PDHA1	VGNC	VGNC:103841
Canis familiaris	PDHA1	VGNC	VGNC:54179
Mus musculus	PDHA1	MGD	MGI:97532
Others	PDHA1	NCBI