PDHA1

GENE INFORMATION

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Gene name

PDHA1 (HGNC Symbol)

Synonyms

PDHA

Description

pyruvate dehydrogenase (lipoamide) alpha 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

p22.12

Chromosome location (bp)

19362011 - 19379823

Ensembl

ENSG00000131828 (version 73.37)

Entrez gene

5160

UniProt

P08559 (UniProt - Evidence at protein level)

neXtProt

NX_P08559

Antibodypedia

PDHA1 antibodies
 

PROTEIN VIEW

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PDHA1-001
 
PDHA1-002
 
PDHA1-004
 
PDHA1-008
 
PDHA1-009
 
PDHA1-010
 
PDHA1-201
 
PDHA1-202
 
PDHA1-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PDHA1-001 ENSP00000369133
ENST00000379805
Q5JPU0
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Show » 180 19.8 No 0
PDHA1-002 ENSP00000369132
ENST00000379804
Q5JPU3
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Show » 109 12.6 No 0
PDHA1-004 ENSP00000394382
ENST00000422285
P08559
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Show » Show » 390 43.3 No 0
PDHA1-008 ENSP00000348062
ENST00000355808
Q5JPT9
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Show » Show » 204 22.3 No 0
PDHA1-009 ENSP00000406473
ENST00000423505
Q5JPU1
Show all »
Show » 205 22.8 Yes 0
PDHA1-010 ENSP00000404616
ENST00000417819
Q5JPU2
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121 13.8 Yes 0
PDHA1-201 ENSP00000369134
ENST00000379806
P08559
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Show » Show » 428 47.6 Yes 0
PDHA1-202 ENSP00000440761
ENST00000540249
P08559
Show all »
Show » Show » 359 40.2 No 0
PDHA1-203 ENSP00000438550
ENST00000545074
P08559
Show all »
Show » Show » 397 44.1 No 0