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DLAT Gene

protein-coding GIFtS: 69
GCID: GC11P111895

Dihydrolipoamide S-Acetyltransferase

(Previous symbol: DLTA)

Microbiology & Infectious Diseases Congress

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at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Dihydrolipoamide S-Acetyltransferase¹ ²		PBC² ³
DLTA¹ ² ³		PDC-E2² ³
PDCE2² ³ ⁵		M2 Antigen Complex 70 KDa Subunit² ³
E2 Component Of Pyruvate Dehydrogenase Complex¹ ²		EC 2.3.1.12³ ⁸
Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex² ³		Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Mitochondrial²
Pyruvate Dehydrogenase Complex Component E2² ³		Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex, Mitochondrial²
70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis² ³		EC 2.3.1⁸

External Ids:	HGNC: 2896¹	Entrez Gene: 1737²	Ensembl: ENSG00000150768⁷	OMIM: 608770⁵	UniProtKB: P10515³

Export aliases for DLAT gene to outside databases

Previous GC identifers: GC11P114248 GC11P113407 GC11P111929 GC11P111433 GC11P111401 GC11P107819

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DLAT Gene:

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner

mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this

gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of

pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for

antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune

liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial

cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to

cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency

which causes primary lactic acidosis in infancy and early childhood.(provided by RefSeq, Oct 2009)

GeneCards Summary for DLAT Gene:

DLAT (dihydrolipoamide S-acetyltransferase) is a protein-coding gene. Diseases associated with DLAT include ulnar neuropathy, and pyruvate dehydrogenase e2 deficiency. GO annotations related to this gene include dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is DLST.

UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515

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 DLAT (Dihydrolipoyl transacetylase) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000011.10 NC_018922.2 NT_033899.9

Regulatory elements:

Regulatory transcription factor binding sites in the DLAT gene promoter:
Max1 SREBP-1c MyoD CBF-C Evi-1 SREBP-1b SREBP-1a CBF-B CP1A CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DLAT promoter sequence

Search Chromatin IP Primers for DLAT

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLAT

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

Entrez Gene cytogenetic band: 11q23.1 Ensembl cytogenetic band: 11q23.1 HGNC cytogenetic band: 11q23.1

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P111895: view genomic region (about GC identifiers)

Start:	111,895,538 bp from pter	End:	111,935,114 bp from pter
Size:	39,577 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515 (See protein sequence)

Recommended Name: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex,

mitochondrial precursor

Size: 647 amino acids; 68997 Da

Cofactor: Binds 2 lipoyl cofactors covalently

Subunit: 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. Interacts with PDK2 and PDK3

Sequence caution: Sequence=AAA62253.1; Type=Frameshift; Positions=449, 451, 455; Sequence=AAA62253.1;

Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;

Selected PDB 3D structures from and Proteopedia for DLAT (see all 10):

1FYC (3D)

1Y8N (3D)

1Y8O (3D)

1Y8P (3D)

2DNE (3D)

2PNR (3D)

Secondary accessions: Q16783 Q53EP3

Explore the universe of human proteins at neXtProt for DLAT: NX_P10515

Explore proteomics data for DLAT at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for DLAT (P10515) (see all 10)

KAREGKL

GTFTISN

AIINPPQ

SKQTIPH

See DLAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001922.2

ENSEMBL proteins:

ENSP00000280346 ENSP00000435374 ENSP00000376771 ENSP00000433432 ENSP00000442427

Reactome Protein details: P10515

DLAT Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for DLAT OriGene Protein Over-expression Lysate for DLAT OriGene MassSpec for DLAT OriGene Custom Protein Services for DLAT
	GenScript Custom Purified and Recombinant Proteins Services for DLAT
	Novus Biologicals DLAT Protein Novus Biologicals DLAT Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for DLAT
	Cloud-Clone Corp. Proteins for DLAT

DLAT Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for DLAT
	Browse OriGene Antibodies OriGene Custom Antibody Services for DLAT
	Novus Biologicals DLAT Antibodies
	Abcam antibodies for DLAT (P10515, O00330)
	Cloud-Clone Corp. Antibodies for DLAT
	ThermoFisher Antibody for DLAT
	LSBio Antibodies in human, mouse, rat for DLAT

DLAT Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DLAT
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DLAT
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for DLAT Cloud-Clone Corp. CLIAs for DLAT

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):

IPR004167 E3-bd

IPR006257 LAT1

IPR000089 Biotin_lipoyl

IPR003016 2-oxoA_DH_lipoyl-BS

IPR001078 2-oxoacid_DH_actylTfrase

Graphical View of Domain Structure for InterPro Entry P10515

ProtoNet protein and cluster: P10515

4 Blocks protein domains:

IPB000089 Biotin/lipoyl attachment

IPB001078 Catalytic domain of components of various dehydrogenase complexes

IPB003016 2-oxo acid dehydrogenase

IPB004167 E3 binding domain

UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515

Similarity: Belongs to the 2-oxoacid dehydrogenase family

Similarity: Contains 2 lipoyl-binding domains

DLAT for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ODP2_HUMAN, P10515

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: Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme

N(6)-(S-acetyldihydrolipoyl)lysine

Enzyme Numbers (IUBMB): EC 2.3.1.12¹ ² EC 2.3.1²

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004742	dihydrolipoyllysine-residue acetyltransferase activity	NAS	3191998
GO:0005515	protein binding	IPI	15861126
GO:0016746	transferase activity, transferring acyl groups	--	--

DLAT for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for DLAT:

Synthetic lethal with imatinib

Upregulation of Wnt/beta-caten

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLAT

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DLAT

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLAT

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLAT

miRNA Products:		miRTarBase miRNAs that target DLAT: hsa-mir-615-3p (MIRT040451), hsa-let-7b-5p (MIRT032242), hsa-mir-10b-5p (MIRT047485)

		Block miRNA regulation of human, mouse, rat DLAT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DLAT (see all 18):
		hsa-miR-623 hsa-miR-376b hsa-miR-1271 hsa-miR-378b hsa-miR-378 hsa-miR-96 hsa-miR-365 hsa-miR-222*

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

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DLAT
		Predesigned siRNA for gene silencing in human, mouse, rat DLAT

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DLAT

Clone Products:		OriGene clones in human, mouse for DLAT (see all 6) OriGene ORF clones in mouse, rat for DLAT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
		Sino Biological Human cDNA Clone for DLAT
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLAT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DLAT
		Browse ESI BIO Cell Lines and PureStem Progenitors for DLAT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ODP2_HUMAN, P10515: Mitochondrion matrix

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	1

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Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--
GO:0005967	mitochondrial pyruvate dehydrogenase complex	NAS	3191998
GO:0045254	pyruvate dehydrogenase complex	--	--

DLAT for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DLAT About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Citric acid cycle (TCA cycle)

Citrate cycle (TCA cycle)	0.55	pyruvate decarboxylation to acetyl CoA
Pyruvate metabolism and Citric Acid (TCA) cycle	0.49	Regulation of pyruvate dehydrogenase (PDH) complex
conversion of glucose to acetyl CoA and entry into the TCA cycle	0.43	Pyruvate metabolism

Glycolysis and gluconeogenesis short map

Glycolysis and Gluconeogenesis

0.60

Glycolysis / Gluconeogenesis

0.46

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

The citric acid (TCA) cycle and respiratory electron transport

0.71

Carbon metabolism

Carbon metabolism

0.38

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for DLAT

Glucose / Energy Metabolism

3 BioSystems Pathways for DLAT

	pyruvate decarboxylation to acetyl CoA
	Glycolysis and Gluconeogenesis
	conversion of glucose to acetyl CoA and entry into the TCA cycle

2 Reactome Pathways for DLAT

	Pyruvate metabolism
	Regulation of pyruvate dehydrogenase (PDH) complex

5 Kegg Pathways (Kegg details for DLAT):

	Glycolysis / Gluconeogenesis
	Citrate cycle (TCA cycle)
	Pyruvate metabolism
	Metabolic pathways
	Carbon metabolism

DLAT for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including DLAT:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for DLAT

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

Selected Interacting proteins for DLAT (P10515^{1, 2, 3} ENSP00000280346⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 171)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDHB	P11177¹^,²^,³, ENSP00000307241⁴	EBI-2959723,EBI-1035872 MINT-6174630 MINT-6174675 MINT-6174645 MINT-6174707 MINT-6174602 MINT-6174660 MINT-6174689 I2D: score=8 STRING: ENSP00000307241
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006006	glucose metabolic process	IEA	--
GO:0006085	acetyl-CoA biosynthetic process	--	--
GO:0006090	pyruvate metabolic process	TAS	--
GO:0006099	tricarboxylic acid cycle	IEA	--
GO:0008152	metabolic process	--	--

DLAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for DLAT (ODP2)

Selected HMDB Compounds for DLAT (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-ketoisovaleric acid	2-Ketoisovalerate (see all 45)	759-05-7	6822537
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	--
Dihydrolipoamide	dihydrolipoamide (see all 6)	3884-47-7	--
Lipoic acid	(+)-alpha-Lipoate (see all 92)	1077-28-7	--
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	--
S-Acetyldihydrolipoamide	6-S-Acetyldihydrolipoamide (see all 5)	--	--

3 DrugBank Compounds for DLAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423 16368957
Dihydrolipoic Acid	--	462-20-4	target	--	10592235
Radicicol	--	--	target	--	10592235

Selected Novoseek inferred chemical compound relationships for DLAT gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
2-oxo acid	95.1	37	9594621 (2), 9141421 (1), 10484012 (1), 10807519 (1) (see all 23)
dihydrolipoamide	92.8	38	9620315 (3), 7890655 (2), 1370237 (2), 16049940 (2) (see all 24)
pyruvate	91.8	200	7519986 (5), 14638692 (4), 7927255 (3), 7822313 (3) (see all 99)
alpha lipoic acid	80.6	27	19003917 (5), 7519986 (2), 7821922 (1), 9089910 (1) (see all 15)
alpha-ketoglutarate	75.6	20	9141421 (1), 10484012 (1), 12734383 (1), 2243228 (1) (see all 14)
acetyl-coa	57.1	8	8557670 (3), 18184588 (1), 12411477 (1), 15491151 (1) (see all 5)
amino acid	36.7	2	7521314 (1)
nadh	21.6	5	8557670 (2), 15491151 (1), 18627174 (1)
adp	19	2	10748134 (1), 12816949 (1)
lysine	19	11	15558739 (3), 1701753 (2), 18563844 (1), 10209517 (1) (see all 5)

DLAT for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DLAT gene:

NM_001931.4

Unigene Cluster for DLAT:

Dihydrolipoamide S-acetyltransferase

Hs.335551 [show with all ESTs]

Unigene Representative Sequence: NM_001931

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

ENST00000280346(uc001pmo.3 uc010rwr.2 uc021qqn.1) ENST00000533297

ENST00000393051 ENST00000531306 ENST00000527231 ENST00000537636

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat DLAT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DLAT (see all 18):
		hsa-miR-623 hsa-miR-376b hsa-miR-1271 hsa-miR-378b hsa-miR-378 hsa-miR-96 hsa-miR-365 hsa-miR-222*

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

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DLAT
		Predesigned siRNA for gene silencing in human, mouse, rat DLAT

Clone Products:		OriGene clones in human, mouse for DLAT (see all 6) OriGene ORF clones in mouse, rat for DLAT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLAT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT

Primer Products:		OriGene qPCR primer pairs and template standards for DLAT OriGene qSTAR qPCR primer pairs in human, mouse for DLAT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DLAT
		QuantiTect SYBR Green Assays in human, mouse, rat DLAT
		QuantiFast Probe-based Assays in human, mouse, rat DLAT

Additional mRNA sequence:

AF317200.1 AK057299.1 AK223596.1 AK296274.1 AK297103.1 AK303930.1 AL832703.1 BC039084.1

X13822.1 Y00978.1

13 DOTS entries:

DT.75168175 DT.95378651 DT.100721475 DT.95167732 DT.217357 DT.100793562 DT.120733901 DT.92438859

DT.453367 DT.100793560 DT.100793558 DT.100793563 DT.92058549

Selected AceView cDNA sequences (see all 261):

AL559500 BM541380 AA281656 AI472203 AA400968 BG261347 BM840376 BU679072

AA457372 BQ184815 AI969624 CR613534 BM991840 AA641655 CK823259 AI799356

BM966823 AI452538 BU508456 AL559499 BF939962 CK823258 AK057299 CA844366

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for DLAT About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b
SP1:
SP2:													-		-
SP3:											-		-		-		-		-		-		-		-		-
SP4:

ECgene alternative splicing isoforms for DLAT

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DLAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

DLAT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Brain (Nervous System) fully expand to see all 5 entries
Cerebral Cortex

Adipose (Muscoskeletal System) fully expand to see all 2 entries
Thoracic Perivascular Adipose

Bone (Muscoskeletal System)
Bone Marrow

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Testis (Reproductive System)
Leydig Cells Testis Interstitium

DLAT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DLAT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.335551

Pathway & Disease-focused RT² Profiler PCR Arrays including DLAT:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for DLAT OriGene qSTAR qPCR primer pairs in human, mouse for DLAT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DLAT
		QuantiTect SYBR Green Assays in human, mouse, rat DLAT
		QuantiFast Probe-based Assays in human, mouse, rat DLAT

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for DLAT gene from Selected species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dlat^{1 , 5}	dihydrolipoamide S-acetyltransferase (E2 component more^{1, 5}	84.84(n)¹ 86.14(a)¹		9 (27.75 cM)⁵ 235339¹ NM_145614.4¹ NP_663589.3¹ 50634633⁵
chicken (Gallus gallus)	Aves	DLAT¹	dihydrolipoamide S-acetyltransferase	72.91(n) 79(a)		419796 XM_417933.4 XP_417933.3
lizard (Anolis carolinensis)	Reptilia	DLAT⁶	dihydrolipoamide S-acetyltransferase	72(a)	1 ↔ 1	GL343973.1(87904-106924)
African clawed frog (Xenopus laevis)	Amphibia	LOC398314²	dihydrolipoamide acetyltransferase	75.45(n)		AF430140.1
zebrafish (Danio rerio)	Actinopterygii	Dr.2810²	Danio rerio dihydrolipoamide S-acetyltransferase (dlat) more	77.53(n)		AY188775.1
fruit fly (Drosophila melanogaster)	Insecta	CG5261^{1 , 3}	dihydrolipoamide S-acetyltransferase³ CG5261¹	52(a)³ 56.42(n)¹ 54.69(a)¹		27F6³ 34021¹ NM_001273267.1¹ NP_001260196.1¹
worm (Caenorhabditis elegans)	Secernentea	F23B12.5³ dlat-1¹	dihyrolipoamide acetyltransferase component (pyruvate more³ dlat-1¹	53(a) (best of 2)³ 58.91(n)¹ 61.05(a)¹		V(14448187-14449885)³ 179945¹ NM_074178.6¹ NP_506579.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	LAT1(YNL071W)⁴ LAT1¹	Dihydrolipoamide acetyltransferase component (E2) of more⁴ LAT1¹	50.65(n)¹ 45.98(a)¹		14(491523-492971)⁴ 855653^{1, 4} NP_014328.3¹ NP_014328.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G54220¹	AT1G54220	53.91(n) 49.88(a)		841863 NM_001036109.1 NP_001031186.1
rice (Oryza sativa)	Liliopsida	AK070846.1²	--	71.7(n)		AK070846.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DLAT gene

DLST² DBT²

1 SIMAP similar gene for DLAT using alignment to 6 protein entries: ODP2_HUMAN E9PKC7_HUMAN F5H7M3_HUMAN Q86YI5_HUMAN E9PEJ4_HUMAN H0YDD4_HUMAN(see first protein):

PDHX

DLAT for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60515736^1,2	C	--	107826426(+)	`TTTTTTT/-AAGAG`	1	--	int¹		1		NA	2
rs35822904^1,2	C	--	107832412(+)	`TTTTTT/-AAGAG`	1	--	int¹		1		NA	2
rs111525952^1,2	C	--	107839908(+)	`TTTAGG/TTTGTT`	1	--	int¹		0	--	--	--	--
rs182220169^1,2		--	107853244(+)	`GGAAGA/GGGGGG`	1	--	int¹		0	--	--	--	--
rs147005278^1,2		--	111758810(+)	`CATAAC/TGAAGC`	1	--	us2k¹		0	--	--	--	--
rs138220335^1,2		--	111758874(+)	`AACCTA/GTATCT`	1	--	us2k¹		0	--	--	--	--
rs190887558^1,2		--	111759019(+)	`TGAAAA/CGAAAT`	1	--	ut5¹		0	--	--	--	--
rs114863504^1,2	C,F	--	111759029(+)	`TCTTTG/ACAACC`	1	--	ut5¹		1		WA	118
rs78298568^1,2	C,F	--	111759068(+)	`TCCATC/TCCCCT`	1	--	ut5¹		2		WA	120
rs183456915^1,2	C	--	111759094(+)	`CAGAGA/GTCACC`	1	--	ut5¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DLAT (111895538 - 111935114 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for DLAT: About this table

Variant ID	Type	Subtype	PubMed ID
esv2745077	CNV	Deletion	23290073
esv2662119	CNV	Deletion	23128226

Human Gene Mutation Database (HGMD): DLAT

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing DLAT

DNA2.0 Custom Variant and Variant Library Synthesis for DLAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608770
OMIM disorders: 245348
UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515

Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the

presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of

intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show

autoantibodies against the E2 component of pyruvate dehydrogenase complex

Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH)

deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early

childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other

more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.

Note=The disease is caused by mutations affecting the gene represented in this entry

Selected diseases for DLAT (see all 32):
About MalaCards

ulnar neuropathy pyruvate dehydrogenase e2 deficiency mycobacterium gordonae lipoamide dehydrogenase deficiency

lactic acidosis pyruvate decarboxylase deficiency liver disease primary biliary cirrhosis

cholangitis autoimmune hepatitis sjogren's syndrome hematopoietic stem cell transplantation

vaginitis epididymitis hypotonia hepatitis c

dilated cardiomyopathy hepatitis myopathy neuropathy

3 diseases from the University of Copenhagen DISEASES database for DLAT:

Primary biliary cirrhosis Pyruvate decarboxylase deficiency Ulnar neuropathy

DLAT for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for DLAT gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
biliary cirrhosis primary	95.1	92	8336525 (4), 7521314 (3), 1714873 (3), 1283300 (2) (see all 59)
hepatitis autoimmune	61.3	1	17162370 (1)
cholangitis	57	2	19094117 (1)
mimicry	56.1	3	11804659 (1), 7519986 (1)
autoimmune diseases	55.1	4	7543435 (1), 2243228 (1)
cholangitis primary sclerosing	54.7	3	8514873 (1), 7821922 (1), 17162370 (1)
liver diseases	52.2	2	11851838 (1), 17068145 (1)
autoimmunity	49.5	2	14708897 (1), 16792678 (1)
sjogrens syndrome	13.1	1	9556352 (1)
hepatitis c chronic	0	2	8726856 (1)

Genetic Association Database (GAD): DLAT
Human Genome Epidemiology (HuGE) Navigator: DLAT (5 documents)

Export disorders for DLAT 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)
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PubMed articles for DLAT gene, integrated from 10 sources (see all 192):
(articles sorted by number of sources associating them with DLAT)

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

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, 9} Hiromasa Y.... Roche T.E. (J. Biol. Chem. 2004)
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PubMed id 16049940)^{1, 2, 9} Head R.A.... Brown G.K. (Ann. Neurol. 2005)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)^{1, 4} Flachsbart F....Nebel A. (Mutat. Res. 2010)
Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)^{1, 4} Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)^{1, 4} Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)^{1, 4} Trynka G....Wijmenga C. (Gut 2009)
Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex. (PubMed id 15861126)^{1, 2} Kato M.... Chuang D.T. (EMBO J. 2005)
Three-dimensional structure of the major autoantigen in primary biliary cirrhosis. (PubMed id 9649469)^{1, 2} Howard M.J.... Yeaman S.J. (Gastroenterology 1998)
Chromosome localization and RFLP analysis of PDC-E2: the major autoantigen of primary biliary cirrhosis. (PubMed id 8102256)^{1, 3} Leung P.S....Gershwin M.E. (Autoimmunity 1993)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 1737	HGNC: 2896	AceView: DLAT	Ensembl:ENSG00000150768	euGenes: HUgn1737
ECgene: DLAT	Kegg: 1737	H-InvDB: DLAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DLAT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DLAT 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 DLAT gene:
Search GeneIP for patents involving DLAT

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Dihydrolipoamide S-Acetyltransferase

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Dihydrolipoamide S-Acetyltransferase

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