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pyruvate dehydrogenase E1 subunit alpha 1

Summary

Gene Symbol

PDHA1

Aliases

E1alpha
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

Organism

Homo sapiens (human)

External Links

NCBI Gene

5160

HGNC

8806

KEGG Gene ID

["hsa:5160"]

PubChem

5160

Alliance of Genome Resources

HGNC:8806

JoGo

PDHA1

TogoVar

PDHA1

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Direct protein sequencing
Disease variant
Glucose metabolism
Leigh syndrome
Magnesium
Metal-binding
Mitochondrion
Oxidoreductase
Phosphoprotein
Proteomics identification
Pyruvate
Reference proteome
Thiamine pyrophosphate
Transit peptide
Tricarboxylic acid cycle

Proteins

Displaying 1 entry
UniProt	Protein Name
P08559	PDHE1-A type I

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
glucose metabolic process
pyruvate decarboxylation to acetyl-CoA	IDA
pyruvate decarboxylation to acetyl-CoA	IBA
pyruvate decarboxylation to acetyl-CoA	IEA
tricarboxylic acid cycle

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

sulfur compound metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

sulfur compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

organophosphate biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

sulfur compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

purine-containing compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

organophosphate biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

glucose metabolic process

tricarboxylic acid cycle

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

glucose metabolic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

pyruvate metabolic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

purine-containing compound metabolic process [inference]

acyl-CoA metabolic process [inference]

acetyl-CoA metabolic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

purine-containing compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

acetyl-CoA biosynthetic process [inference]

pyruvate decarboxylation to acetyl-CoA

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
nucleus	HDA
nucleolus
mitochondrion	ISS
mitochondrion	NAS
mitochondrion	TAS

GO Hierarchy

cellular component

protein-containing complex

catalytic complex [inference]

oxidoreductase complex [inference]

alpha-ketoacid dehydrogenase complex [inference]

pyruvate dehydrogenase complex

transferase complex [inference]

acetyltransferase complex [inference]

pyruvate dehydrogenase complex

cellular anatomical structure [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular membraneless organelle [inference]

nucleolus

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
pyruvate dehydrogenase (acetyl-transferring) activity	EXP
pyruvate dehydrogenase (acetyl-transferring) activity	IDA
pyruvate dehydrogenase (acetyl-transferring) activity	IEA
protein binding	IPI
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor

pyruvate dehydrogenase (acetyl-transferring) activity

binding [inference]

protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Pyruvate dehydrogenase E1 component alpha subunit

Functional Category

C: Energy production and conversion
I: Lipid transport and metabolism
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
acetyl-CoA biosynthetic process from pyruvate
oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
oxidoreductase activity
pyruvate dehydrogenase (acetyl-transferring) activity

Displaying **all 2** entries
InterPro
Dehydrogenase, E1 component
Thiamin diphosphate-binding fold

Human Protein Atlas

ENSG00000131828

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00161

Name

pyruvate dehydrogenase E1 component subunit alpha [EC:1.2.4.1]

References

Rhea

RHEA:19189

pyruvate + H⁺

CO₂

Enzyme

1.2.4.1

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:3649	pyruvate decarboxylase deficiency	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 76 in total

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HPO ID	HPO Term
HP:0000252	Microcephaly
HP:0000343	Long philtrum
HP:0000431	Wide nasal bridge
HP:0000454	Flared nostrils
HP:0000463	Anteverted nares
HP:0000496	Abnormality of eye movement
HP:0000508	Ptosis
HP:0000618	Blindness
HP:0000707	Abnormality of the nervous system
HP:0000954	Single transverse palmar crease

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:312170	pyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243	pyruvate dehydrogenase E1-alpha deficiency

PubChem Disease

GHR Health Conditions

MedGen Diseases

Pyruvate dehydrogenase E1-alpha deficiency

OMIM Phenotypes

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements