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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PDHA1 Gene

protein-coding GIFtS: 69
GCID: GC0XP019271

pyruvate dehydrogenase (lipoamide) alpha 1

(Previous symbol: PDHA)

Explore 21 diseases affiliated with
PDHA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Pyruvate Dehydrogenase (Lipoamide) Alpha 1¹ ²		EC 1.2.4.1³ ⁸
PHE1A² ³ ⁵		PDHCE1A²
PDHA¹ ²		Pyruvate Dehydrogenase Complex, E1-Alpha Polypeptide 1²
PDHE1-A Type I² ³		Pyruvate Dehydrogenase E1 Component Subunit Alpha, Somatic Form, Mitochondrial²

External Ids:	HGNC: 8806¹	Entrez Gene: 5160²	Ensembl: ENSG00000131828⁷	OMIM: 300502⁵	UniProtKB: P08559³

Export aliases for PDHA1 gene to outside databases

Previous GC identifers: GC0XP018898 GC0XP018028 GC0XP018564 GC0XP018723 GC0XP019121 GC0XP017111

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDHA1:

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)

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559

Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and

thereby links the glycolytic pathway to the tricarboxylic cycle

Gene Wiki entry for PDHA1 (Pyruvate dehydrogenase alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167197.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PDHA1 gene promoter:
Max1 Egr-3 HFH-3 FOXI1 RORalpha1 Ik-2 COMP1 c-Myb c-Myc Ik-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PDHA1 promoter sequence

Search SABiosciences Chromatin IP Primers for PDHA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDHA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1 Ensembl cytogenetic band: Xp22.12 HGNC cytogenetic band: Xp22.1

PDHA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDHA1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP019271: view genomic region (about GC identifiers)

Start:	19,362,011 bp from pter	End:	19,379,825 bp from pter
Size:	17,815 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559 (See protein sequence)

Recommended Name: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor

Size: 390 amino acids; 43296 Da

Cofactor: Thiamine pyrophosphate

Subunit: Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the

multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1),

dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an

inner core composed of about 48 DLAT and 12 PDHX molecules

Subcellular location: Mitochondrion matrix

Sequence caution: Sequence=AAA60055.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAB59581.1; Type=Frameshift; Positions=106, 175;

6/7 PDB 3D structures from and Proteopedia for PDHA1 (see all 7):

1NI4 (3D)

2OZL (3D)

3EXE (3D)

3EXF (3D)

3EXG (3D)

3EXH (3D)

Secondary accessions: A5YVE9 B7Z3T7 B7Z3X5 Q53H41 Q5JPT8 Q9NP12 Q9UBJ8 Q9UBU0 Q9UNG4 Q9UNG5

Alternative splicing: 4 isoforms: P08559-1 P08559-2 P08559-3 P08559-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDHA1: NX_P08559

Post-translational modifications:

Phosphorylation at Ser-232, Ser-293 and Ser-300 by PDK family kinases inactivates the enzyme; for this phosphorylation

at a single site is sufficient. Dephosphorylation at all three sites, i.e. at Ser-232, Ser-293 and Ser-300, is

required for reactivation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08559

4/22 DME Specific Peptides for PDHA1 (P08559) (see all 22)

GHSMSDP

LCVREAT

RLEEGPP

IRGFCHL

PDHA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000275.1 NP_001166925.1 NP_001166926.1 NP_001166927.1

ENSEMBL proteins:

ENSP00000406473 ENSP00000404616 ENSP00000394382 ENSP00000348062 ENSP00000369133

ENSP00000369132 ENSP00000369134 ENSP00000438550 ENSP00000440761

Reactome Protein details: P08559
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PDHA1 OriGene Protein Over-expression Lysate (see all 3): PDHA1 OriGene Custom Protein Services for PDHA1
	GenScript Custom Purified and Recombinant Proteins Services for PDHA1
	Novus Biologicals PDHA1 Protein Novus Biologicals PDHA1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	3034892
GO:0005759	mitochondrial matrix	TAS	--
GO:0045254	pyruvate dehydrogenase complex	IDA	19081061

PDHA1 for ontologies About GeneDecksing

PDHA1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PDHA1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for PDHA1
	OriGene Antibodies (see all 3): PDHA1 OriGene Custom Antibody Services for PDHA1
	GenScript Custom Superior Antibodies Services for PDHA1
	Novus Biologicals PDHA1 Antibodies
	Abcam antibodies for PDHA1
	Browse Antibodies at Uscn
	ThermoFisher Antibody for PDHA1

Assay Products for PDHA1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PDHA1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PDHA1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001017 DH_E1

IPR017597 Pyrv_DH_E1_asu_subgrp-y

Graphical View of Domain Structure for InterPro Entry P08559

ProtoNet protein and cluster: P08559

1 Blocks protein family: IPB001017 Dehydrogenase

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559

Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and

thereby links the glycolytic pathway to the tricarboxylic cycle

Catalytic activity: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine =

[dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)

Enzyme regulation: Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA1; it is reactivated by

dephosphorylation

Genatlas biochemistry entry for PDHA1:

pyruvate dehydrogenase,E1 alpha polypeptide 1,somatic tissues

Enzyme Number (IUBMB): EC 1.2.4.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone: PDHA1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDHA1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHA1:
		hsa-miR-203 hsa-miR-217 hsa-miR-4312 hsa-miR-570 hsa-miR-33a* hsa-miR-9* hsa-miR-3182 hsa-miR-1299

		SwitchGear 3'UTR luciferase reporter plasmid: PDHA1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDHA1 (see all 7) OriGene shRNA RFP: PDHA1 OriGene siRNA: PDHA1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDHA1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PDHA1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): PDHA1 (NM_000284)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHA1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PDHA1
		Search LifeMap BioReagents cell lines for PDHA1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDHA1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004738	pyruvate dehydrogenase activity	IDA	19081061
GO:0004739	pyruvate dehydrogenase (acetyl-transferring) activity	IEA	--
GO:0016624	oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	--	--

PDHA1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PDHA1:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Pdha1^tm1.1Ptl for PDHA1
8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pdha1):

cardiovascular system	embryogenesis	growth/size	homeostasis/metabolism	mortality/aging
muscle	nervous system	reproductive system

PDHA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TCA Cycle

	TCA Cycle	1.00			Pyruvate metabolism and Citric Acid (TCA) cycle	0.64
	Citrate cycle (TCA cycle)	0.65

Pyruvate metabolism

Pyruvate metabolism

1.00

Regulation of pyruvate dehydrogenase (PDH) complex

0.60

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Glycolysis and gluconeogenesis (short map)

Glycolysis and Gluconeogenesis

0.60

Glycolysis / Gluconeogenesis

0.41

Development_CNTF receptor signaling

Regulation of lipid metabolism_Insulin signaling-generic cascades

0.35

Regulation of lipid metabolism Insulin signaling:generic cascades

0.35

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PDHA1

Regulation of lipid metabolism Insulin signaling-generic cascades

1 Cell Signaling Technology (CST) Pathway for PDHA1

Glucose / Energy Metabolism

1 GeneGo (Thomson Reuters) Pathway for PDHA1

Regulation of lipid metabolism Insulin signaling-generic cascades

4 BioSystems Pathways for PDHA1

	Acetylcholine Synthesis
	TCA Cycle
	Glycolysis and Gluconeogenesis
	pyruvate decarboxylation to acetyl CoA

5 Reactome Pathways for PDHA1

	Pyruvate metabolism
	Pyruvate metabolism and Citric Acid (TCA) cycle
	Metabolism
	The citric acid (TCA) cycle and respiratory electron transport
	Regulation of pyruvate dehydrogenase (PDH) complex

5/6 Kegg Pathways (Kegg details for PDHA1) (see all 6):

	Glycolysis / Gluconeogenesis
	Citrate cycle (TCA cycle)
	Valine, leucine and isoleucine biosynthesis
	Pyruvate metabolism
	Butanoate metabolism

PDHA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PDHA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/68 Interacting proteins for PDHA1 (P08559^{2, 3} ENSP00000394382⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDK1	Q15118²^,³, ENSP00000282077⁴	MINT-8227846 I2D: score=2 STRING: ENSP00000282077
PDP1	Q9P0J1²^,³, ENSP00000297598⁴	MINT-8227761 I2D: score=2 STRING: ENSP00000297598
PDHB	P11177³, ENSP00000307241⁴	I2D: score=4 STRING: ENSP00000307241
BABAM1	Q9NWV8³, ENSP00000352408⁴	I2D: score=2 STRING: ENSP00000352408
WDR20	Q8TBZ3³, ENSP00000335434⁴	I2D: score=2 STRING: ENSP00000335434

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	IDA	19081061
GO:0006090	pyruvate metabolic process	TAS	--
GO:0006096	glycolysis	IEA	--
GO:0006099	tricarboxylic acid cycle	IDA	19081061
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	--

PDHA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PDHA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PDHA1

10/13 HMDB Compounds for PDHA1 (see all 13) About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Ketobutyric acid	2-Ketobutanoate (see all 35)	600-18-0	3718468
Alpha-ketoisovaleric acid	2-Ketoisovalerate (see all 45)	759-05-7	6822537
2-(a-Hydroxyethyl)thiamine diphosphate	2-Hydroxyethyl-ThPP (see all 6)	10055-47-7	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Lipoamide	Lipozyme (see all 25)	940-69-2	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
Pyruvic acid	2-Oxopropanoate (see all 14)	127-17-3	--

1 DrugBank Compound for PDHA1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/18 Novoseek chemical compound relationships for PDHA1 gene (see all 18) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyruvate	90.2	90	1909401 (4), 2227443 (2), 10679936 (2), 16855207 (2) (see all 66)
acetyl-coa	63.9	1	10662717 (1)
dichloroacetate	57.6	5	11742848 (2), 10409125 (1)
acetyl-l-carnitine	45.6	1	10913026 (1)
glycogen	45.5	4	10913026 (1), 10662717 (1), 1599392 (1), 12651914 (1)
lactate	38.5	4	10913026 (2), 7573423 (1), 10662717 (1)
thiamine	36.4	1	17043409 (1)
carnitine	32	1	9843740 (1)
nadh	22	3	17947500 (1), 7573423 (1), 10662717 (1)
chloramphenicol	21.6	1	8597605 (1)

Search CenterWatch for drugs/clinical trials and news about PDHA1 / ODPA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PDHA1 gene (4 alternative transcripts):

NM_000284.3 NM_001173454.1 NM_001173455.1 NM_001173456.1

Unigene Cluster for PDHA1:

Pyruvate dehydrogenase (lipoamide) alpha 1

Hs.530331 [show with all ESTs]

Unigene Representative Sequence: NM_001173454

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000423505 ENST00000417819 ENST00000422285 ENST00000492364 ENST00000355808

ENST00000379805 ENST00000479146 ENST00000481733 ENST00000379804 ENST00000478795

ENST00000379806(uc004czh.4) ENST00000545074(uc011mjc.2 uc004czg.4)

ENST00000540249(uc011mjd.2 uc010nfl.3)

miRNA Products:		OriGene 3'-UTR Clone: PDHA1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PDHA1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate PDHA1:
		hsa-miR-203 hsa-miR-217 hsa-miR-4312 hsa-miR-570 hsa-miR-33a* hsa-miR-9* hsa-miR-3182 hsa-miR-1299

		SwitchGear 3'UTR luciferase reporter plasmid: PDHA1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PDHA1 (see all 7) OriGene shRNA RFP: PDHA1 OriGene siRNA: PDHA1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PDHA1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PDHA1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): PDHA1 (NM_000284)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDHA1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDHA1

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PDHA1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDHA1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDHA1

Additional cDNA sequence:

AK092210.1 AK129887.1 AK222740.1 AK222988.1 AK293250.1 AK296341.1 AK296457.1 AK312263.1

BC002406.1 EF576990.1 EF590116.1 EF590117.1 J03503.1 J03575.1 L13318.1 L48690.1

M24848.1 S57358.1 X52709.1 X52710.1

24/27 DOTS entries (see all 27):

DT.91759992 DT.418795 DT.95373992 DT.95348325 DT.121285723 DT.99968606 DT.75100518 DT.121285753

DT.100725307 DT.121285711 DT.100883191 DT.121285701 DT.100883205 DT.95373990 DT.97760116 DT.100034728

DT.100883190 DT.100883194 DT.100883195 DT.100883198 DT.100883201 DT.100883203 DT.121285730 DT.121285733

24/597 AceView cDNA sequences (see all 597):

CR590359 BE122783 BM995010 AI151153 AK092210 AA622927 CD368457 BM700521

CA314446 BU501551 BM768323 BQ222347 CA450172 BU732109 CR624456 CB275384

BG325705 AI888103 BM825498 AI799955 AU106923 BU730838 CR614489 CR604641

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for PDHA1 (see all 15) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	^	10a	·	10b	·	10c	^	11	^
SP1:													-		-		-										-				-		-						-				-		-
SP2:													-				-										-				-		-						-
SP3:													-		-		-										-				-		-						-		-		-		-
SP4:													-		-		-										-				-		-						-
SP5:																																							-		-		-		-

ExUns:	12a	·	12b	^	13a	·	13b	·	13c	^	14a	·	14b
SP1:	-
SP2:
SP3:
SP4:
SP5:	-

ECgene alternative splicing isoforms for PDHA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PDHA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTTTGTAC

About this image

PDHA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Branchial Arch 1

Cranial Neural Crest Cells

Neural Crest

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PDHA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PDHA1

SOURCE GeneReport for Unigene cluster: Hs.530331

UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Array including PDHA1:

Glucose Metabolism in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDHA1 gene from 8/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PDHA1¹	pyruvate dehydrogenase (lipoamide) alpha 1	79.57(n) 86.92(a)		418610 NM_001012544.1 NP_001012562.1
lizard (Anolis carolinensis)	Reptilia	--	--	84(a)	1 → many	3(123397319-123411169)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18852²	Xenopus laevis transcribed sequence with moderate similarity more	75.53(n)		BU913844.1
zebrafish (Danio rerio)	Actinopterygii	wufo96f03²	Danio rerio pyruvate dehydrogenase (lipoamide) alpha more	76.04(n)		BC060928.1
fruit fly (Drosophila melanogaster)	Insecta	CG7010³ l(1)G0334¹	pyruvate dehydrogenase (lipoamide)³ lethal (1) G0334¹	58(a) (best of 2)³ 59.47(n)¹ 58.93(a)¹		4C14³ 31406¹ NM_131953.4¹ NP_572181.4¹
worm (Caenorhabditis elegans)	Secernentea	pdha-1⁶	Probable pyruvate dehydrogenase E1 component subun...	54(a)	1 → many	II(8066059-8068132)
thale cress (Arabidopsis thaliana)	eudicotyledons	E1 ALPHA¹	pyruvate dehydrogenase complex E1 alpha subunit	59.14(n) 56.43(a)		842284 NM_104682.2 NP_176198.1
rice (Oryza sativa)	Liliopsida	Os06g0246500¹	hypothetical protein	56.53(n) 52.41(a)		4340640 NM_001063816.1 NP_001057281.1

ENSEMBL Gene Tree for PDHA1 (if available)
TreeFam Gene Tree for PDHA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PDHA1 gene

PDHA2² BCKDHA² ENSG00000255730²

2 SIMAP similar genes for PDHA1 using alignment to 12 protein entries: ODPA_HUMAN (see all proteins):

PDHA1/LOC79064 PDHA2

PDHA1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PDHA1
PGOHUM00000259829

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917898^1,2	C	pathogenic	17122687(+)	`AAATTA/CCCTTG`	8	L F	mis¹		0	--	--	--	--
rs137853259^1,2	C	pathogenic	17123007(+)	`GCGTCC/GGAGAG`	8	R G	mis¹		0	--	--	--	--
rs2229137^1,2	C,F,H,	pathogenic	17124958(+)	`TCCTGA/CTGGAG`	8	M L	mis¹		14		MN NS EA NA	5676
rs6527914^1,2	C,F,A,H,	--	17109873(+)	`TTGGAT/CCATTG`	4	--	us2k¹		13		NS EA NA	1324
rs7059095^1,2	C,F,A,H,	--	17111010(+)	`CGCAGG/TCGCTA`	4	--	us2k¹		8		NS EA WA NA CSA	427
rs5955750^1,2	C,F,A,H,	--	17111120(+)	`TAGCGG/AGGGCG`	4	--	us2k¹		2		NA	8
rs5955751^1,2	C,F,A,H,	--	17111227(+)	`CGTCTA/GCTGGG`	4	--	ut5¹ ese³		9		NS EA NA	720
rs73453457^1,2	C,	--	17111660(+)	`CCTGTC/TGGGTT`	4	--	int¹		2		WA CSA	3
rs5955548^1,2	C,	--	17112510(+)	`ACTTAA/GTACAG`	4	--	int¹		3		WA CSA	5
rs6527915^1,2	C,F,A,H,	--	17113330(+)	`TAACTA/TTAAGT`	4	--	int¹		4		NS EA	418

HapMap Linkage Disequilibrium report for PDHA1 (19362011 - 19379825 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PDHA1
1 Indel: 73943
Human Gene Mutation Database (HGMD): PDHA1

Locus Specific Mutation Databases (LSDB): PDHA1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PDHA1 for disorders           About GeneDecksing

OMIM gene information: 300502
OMIM disorders: 312170  308930
UniProtKB/Swiss-Prot: ODPA_HUMAN, P08559

Defects in PDHA1 are a cause of pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]. An enzymatic

defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal

lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous

system without systemic acidosis

Defects in PDHA1 are the cause of X-linked Leigh syndrome (X-LS) [MIM:308930]. X-LS is an early-onset

progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in

one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and

spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation.

Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause

is a defect in oxidative phosphorylation. LS may be a feature of a deficiency of any of the mitochondrial respiratory

chain complexes

20/21 diseases for PDHA1 (see all 21): About MalaCards

x-linked leigh syndrome alpha-ketoglutarate dehydrogenase deficiency coffin-lowry syndrome pyruvate decarboxylase deficiency

x-linked disease lactic acidosis primary biliary cirrhosis episodic ataxia

metabolic disorders retinoschisis leigh disease gliosis

protein s deficiency paralysis ataxia liver cancer

cerebritis hypoxia prostatitis hepatitis

5 diseases from the University of Copenhagen DISEASES database for PDHA1:

Pyruvate decarboxylase deficiency Lactic acidosis Leigh disease Coffin-Lowry syndrome

Retinoschisis

5 Novoseek disease relationships for PDHA1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leigh syndrome	71	4	17582259 (2), 20002125 (1), 8982956 (1)
acidosis lactic	70.8	5	14635113 (1), 7692352 (1), 8337946 (1), 9467016 (1) (see all 5)
coffin-lowry syndrome	69	1	9467016 (1)
metabolic disorder	8.12	1	17582259 (1)
hypertrophy	0	1	9344771 (1)

Genatlas disease: PDHA1

overwhelming lactic acidosis at birth,Leigh syndrome,with death in neonatal period or progressive dysfunction with

moderate lactic acidosis or carbohydrate-induced episodic ataxia with mild developmental delay in males

Human Genome Epidemiology (HuGE) Navigator: PDHA1 (1 document)

Export disorders for PDHA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PDHA1 gene, integrated from 9 sources (see all 167):
(articles sorted by number of sources associating them with PDHA1)

Utopia: connect your pdf to the dynamic
world of online information

X chromosome evidence for ancient human histories. (PubMed id 10077682)^{1, 2, 9} Harris E.E. and Hey J. (1999)
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. (PubMed id 1909401)^{1, 2, 9} Hansen L.L.... Dahl H.-H.M. (1991)
Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit. (PubMed id 2227443)^{1, 2, 9} Koike K.... Koike M. (1990)
Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS). (PubMed id 8844217)^{1, 2, 9} Tripatara A.... Patel M.S. (1996)
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. (PubMed id 7573035)^{1, 2, 9} Takakubo F.... Dahl H.-H.M. (1995)
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. (PubMed id 1293379)^{1, 2, 9} Dahl H.-H.M....Brown G.K. (1992)
Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops. (PubMed id 19081061)^{1, 2} Kato M....Chuang D.T. (2008)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. (PubMed id 14638692)^{1, 2} Hiromasa Y....Roche T.E. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5160	HGNC: 8806	AceView: PDHA1	Ensembl:ENSG00000131828	euGenes: HUgn5160
ECgene: PDHA1	Kegg: 5160	H-InvDB: PDHA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PDHA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDHA1

Intellectual Property for PDHA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PDHA1 gene:
Search GeneIP for patents involving PDHA1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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pyruvate dehydrogenase (lipoamide) alpha 1

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pyruvate dehydrogenase (lipoamide) alpha 1

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