Cell atlas - PDHA1 - The Human Protein Atlas

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PDHA1

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	PDHA1
Gene description	Pyruvate dehydrogenase (lipoamide) alpha 1
Protein class	Citric acid cycle related proteins Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the mitochondria. Caution: Based on antibodies targeting proteins from multiple genes.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (supported)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA047864
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the mitochondria. Caution: Based on antibodies targeting proteins from multiple genes.

Main location

Mitochondria (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA047864	HeLa	Mitochondria
	HPA047864	PC-3	Mitochondria	Intensity
	HPA047864	U-2 OS	Nucleoli
	HPA047864	U-2 OS	Mitochondria	Intensity

GENE INFORMATION
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
Cytoband	p22.12
Chromosome location (bp)	19343893 - 19361705
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000131828 (version 83.38)
Entrez gene	5160
UniProt	P08559 (UniProt - Evidence at protein level)
neXtProt	NX_P08559
Antibodypedia	PDHA1 antibodies

PROTEIN BROWSER

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

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PDHA1-001 ENSP00000369133 ENST00000379805	Q5JPU0 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	180 aa 19.8 kDa	No	0
PDHA1-002 ENSP00000369132 ENST00000379804	Q5JPU3 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	109 aa 12.6 kDa	No	0
PDHA1-004 ENSP00000394382 ENST00000422285	P08559 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial A0A024RBX9 [Target identity:100%; Query identity:100%] Pyruvate dehydrogenase E1 component subunit alpha Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004738 [pyruvate dehydrogenase activity] GO:0004739 [pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006006 [glucose metabolic process] GO:0006086 [acetyl-CoA biosynthetic process from pyruvate] GO:0006090 [pyruvate metabolic process] GO:0006099 [tricarboxylic acid cycle] GO:0008152 [metabolic process] GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231 [intracellular membrane-bounded organelle] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0045254 [pyruvate dehydrogenase complex] Show all	390 aa 43.3 kDa	No	0
PDHA1-008 ENSP00000348062 ENST00000355808	Q5JPT9 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	204 aa 22.3 kDa	No	0
PDHA1-009 ENSP00000406473 ENST00000423505	Q5JPU1 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Citric acid cycle related proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0008152 [metabolic process] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0055114 [oxidation-reduction process] Show all	205 aa 22.8 kDa	Yes	0
PDHA1-010 ENSP00000404616 ENST00000417819	Q5JPU2 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Citric acid cycle related proteins Protein evidence (Ezkurdia et al 2014) Show all		121 aa 13.8 kDa	Yes	0
PDHA1-201 ENSP00000369134 ENST00000379806	P08559 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004738 [pyruvate dehydrogenase activity] GO:0004739 [pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006006 [glucose metabolic process] GO:0006086 [acetyl-CoA biosynthetic process from pyruvate] GO:0006090 [pyruvate metabolic process] GO:0006099 [tricarboxylic acid cycle] GO:0008152 [metabolic process] GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0034604 [pyruvate dehydrogenase (NAD+) activity] GO:0043209 [myelin sheath] GO:0043231 [intracellular membrane-bounded organelle] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0045254 [pyruvate dehydrogenase complex] GO:0061732 [mitochondrial acetyl-CoA biosynthetic process from pyruvate] Show all	428 aa 47.6 kDa	Yes	0
PDHA1-202 ENSP00000440761 ENST00000540249	P08559 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004738 [pyruvate dehydrogenase activity] GO:0004739 [pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006006 [glucose metabolic process] GO:0006086 [acetyl-CoA biosynthetic process from pyruvate] GO:0006090 [pyruvate metabolic process] GO:0006099 [tricarboxylic acid cycle] GO:0008152 [metabolic process] GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0045254 [pyruvate dehydrogenase complex] Show all	359 aa 40.2 kDa	No	0
PDHA1-203 ENSP00000438550 ENST00000545074	P08559 [Direct mapping] Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Citric acid cycle related proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004738 [pyruvate dehydrogenase activity] GO:0004739 [pyruvate dehydrogenase (acetyl-transferring) activity] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006006 [glucose metabolic process] GO:0006086 [acetyl-CoA biosynthetic process from pyruvate] GO:0006090 [pyruvate metabolic process] GO:0006099 [tricarboxylic acid cycle] GO:0008152 [metabolic process] GO:0010510 [regulation of acetyl-CoA biosynthetic process from pyruvate] GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0043231 [intracellular membrane-bounded organelle] GO:0044237 [cellular metabolic process] GO:0044281 [small molecule metabolic process] GO:0045254 [pyruvate dehydrogenase complex] Show all	397 aa 44.1 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.