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PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000284 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_001173454 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001173455 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001173456 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol PDHA1
Entrez Gene ID 5160
Full Name pyruvate dehydrogenase (lipoamide) alpha 1
Synonyms PDHA, PDHCE1A, PHE1A
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.1

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].
Disorder

MIM: 300502

Pyruvate dehydrogenase deficiency, 312170 (3); Leigh syndrome,

mRNA Protein Product Sequence Price Select
NM_000284, 291084749 NP_000275, 4505685 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor ORF Sequence $269.00
NM_001173454, 291084741 NP_001166925, 291084742 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 2 precursor ORF Sequence $550.00
NM_001173455, 291084743 NP_001166926, 291084744 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 3 precursor ORF Sequence $400.00
NM_001173456, 291084756 NP_001166927, 291084757 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 4 precursor ORF Sequence $400.00
KEGG
hsa00020Citrate cycle (TCA cycle)
hsa_M00307Pyruvate oxidation, pyruvate => acetyl-CoA
hsa00010Glycolysis / Gluconeogenesis
hsa04066HIF-1 signaling pathway
hsa00650Butanoate metabolism
hsa00620Pyruvate metabolism
WikiPathways
WP78TCA Cycle
WP528Acetylcholine Synthesis
WP534Glycolysis and Gluconeogenesis
BIOCYC
META_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
HUMAN_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
Reactome
REACT_12528Regulation of pyruvate dehydrogenase (PDH) complex
REACT_1046Pyruvate metabolism and Citric Acid (TCA) cycle
REACT_2071Pyruvate metabolism
REACT_111083The citric acid (TCA) cycle and respiratory electron transport
REACT_111217Metabolism
Homo sapiens (human)PDHA1NP_001166926.1
Pan troglodytes (chimpanzee)PDHA1NP_001104283.1
Canis lupus familiaris (dog)PDHA1XP_003435519.1
Bos taurus (cattle)PDHA1NP_001094516.1
Mus musculus (house mouse)Pdha1NP_032836.1
Rattus norvegicus (Norway rat)Pdha1NP_001004072.2
Gallus gallus (chicken)PDHA1NP_001012562.1
Danio rerio (zebrafish)pdha1bNP_001002399.1
Danio rerio (zebrafish)pdha1aNP_998558.1
Drosophila melanogaster (fruit fly)l(1)G0334NP_572181.4
Arabidopsis thaliana (thale cress)IAR4NP_173828.1
Arabidopsis thaliana (thale cress)E1 ALPHANP_176198.1
GeneCards PDHA1
PDB 3EXF, 3EXI, 3EXG, 2OZL, 3EXH, 1NI4, 3EXE
UniProt P08559
MIM 300502
Ensembl ENSG00000131828
HGNC 8806
HPRD 02420

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Names
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
PDHE1-A type I
pyruvate dehydrogenase complex, E1-alpha polypeptide 1
NP_000275.1
NP_001166925.1
NP_001166926.1
NP_001166927.1

Interactant



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