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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DLAT Gene

protein-coding GIFtS: 64
GCID: GC11P111895

dihydrolipoamide S-acetyltransferase

(Previous symbol: DLTA)

Explore 25 diseases affiliated with
DLAT 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
Dihydrolipoamide S-Acetyltransferase¹ ²		PBC² ³
DLTA¹ ² ³		M2 Antigen Complex 70 KDa Subunit² ³
PDC-E2¹ ² ³		EC 2.3.1.12³ ⁸
PDCE2² ³ ⁵		Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Mitochondrial²
Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex² ³		Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex, Mitochondrial²
Pyruvate Dehydrogenase Complex Component E2² ³		E2 Component Of Pyruvate Dehydrogenase Complex²
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DLAT:

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)

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)

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for DLAT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Subcellular location: Mitochondrion matrix

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;

6/10 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10515

4/10 DME Specific Peptides for DLAT (P10515) (see all 10)

KAREGKL

GTFTISN

AIINPPQ

SKQTIPH

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

REFSEQ proteins: NP_001922.2

ENSEMBL proteins:

ENSP00000280346 ENSP00000435374 ENSP00000376771 ENSP00000433432 ENSP00000442427

Reactome Protein details: P10515
Human Recombinant Protein Products for DLAT:

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	Novus Biologicals DLAT Protein Novus Biologicals DLAT Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for DLAT
	Uscn Proteins for DLAT

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

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

DLAT for ontologies About GeneDecksing

DLAT Antibody Products:

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	Novus Biologicals DLAT Antibodies
	Abcam antibodies for DLAT
	Uscn Antibodies for DLAT
	ThermoFisher Antibody for DLAT

Assay Products for DLAT:

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	GenScript Custom Assay Services for DLAT
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DLAT

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

DLAT for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR004167 E3-bd

IPR006257 LAT1

IPR011053 Single_hybrid_motif

IPR000089 Biotin_lipoyl

IPR003016 2-oxoA_DH_lipoyl-BS

Graphical View of Domain Structure for InterPro Entry P10515

ProtoNet protein and cluster: P10515

4 Blocks protein families:

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

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

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): 2 molecular function terms (GO ID links to tree view): 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

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 - Customizable classic, inducible, and humanized mouse model solutions for DLAT

miRNA Products:		OriGene 3'-UTR Clone: DLAT Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLAT
		8/18 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLAT (see all 7) OriGene shRNA RFP: DLAT OriGene siRNA: DLAT
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		Sirion Biotech Custom design and validation of potent shRNA sequences against DLAT

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DLAT
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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 DLAT (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLAT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT

(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 - 5/8 super-pathways (see all 8) 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

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for DLAT

Glucose / Energy Metabolism

3 BioSystems Pathways for DLAT

	TCA Cycle
	pyruvate decarboxylation to acetyl CoA
	Glycolysis and Gluconeogenesis

5 Reactome Pathways for DLAT

	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

4 Kegg Pathways (Kegg details for DLAT):

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

DLAT for pathways About GeneDecksing

Interactions:

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

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

5/143 Interacting proteins for DLAT (P10515^{2, 3} ENSP00000280346⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 143)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDHB	P11177²^,³, ENSP00000307241⁴	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

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006006	glucose metabolic process	IEA	--
GO:0006085	acetyl-CoA biosynthetic process	NAS	--
GO:0006086	acetyl-CoA biosynthetic process from pyruvate	--	--
GO:0006090	pyruvate metabolic process	TAS	--
GO:0006096	glycolysis	--	--

DLAT 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

DLAT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DLAT

10/11 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

10/12 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about DLAT / ODP2

(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, Sirion Biotech, 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 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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLAT
		8/18 QIAGEN miScript miRNA 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

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		GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931)
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Additional cDNA 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

24/261 AceView cDNA sequences (see all 261):

BQ184815 AK057299 AI570903 BF725774 CA313259 BU679072 CK823258 BM541380

AA457372 BE273936 BU159332 AW188637 BG261347 CR617020 CN482077 AA400968

CA844364 BX093967 AL559500 AI472203 BF939962 AI799356 CR613534 AI452538

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™, 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

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

About this image
See DLAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DLAT

SOURCE GeneReport for Unigene cluster: Hs.335551
SABiosciences Expression via Pathway-Focused PCR Arrays including DLAT:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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		QIAGEN 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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLAT gene from 9/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DLAT¹	dihydrolipoamide S-acetyltransferase	72.58(n) 78.12(a)		419796 XM_417933.3 XP_417933.2
lizard (Anolis carolinensis)	Reptilia	DLAT⁶	--	78(a)	1 ↔ 1	GL343973.1(92243-106224)
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) mRNA, complete cds less	77.53(n)		AY188775.1
fruit fly (Drosophila melanogaster)	Insecta	CG5261^{1 , 3}	dihydrolipoamide S-acetyltransferase³ CG5261¹	52(a)³ 56.46(n)¹ 55.37(a)¹		27F6³ 34021¹ NM_135274.2¹ NP_609118.1¹
worm (Caenorhabditis elegans)	Secernentea	F23B12.5³ dlat-1¹	dihyrolipoamide acetyltransferase component (pyruvate dehydrogenase complex) less³ Protein DLAT-1¹	53(a) (best of 2)³ 55.83(n)¹ 55.9(a)¹		V(14448187-14449885)³ 179945¹ NM_074178.5¹ NP_506579.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	LAT1(YNL071W)⁴ LAT1¹	Dihydrolipoamide acetyltransferase component (E2) of pyruvate dehydrogenase complex, which catalyzes the oxidative decarboxylation of pyruvate to acetyl-CoA less⁴ Lat1p¹	52.38(n)¹ 47(a)¹		14(491523-492971)⁴ 855653^{1, 4} NP_014328.3¹ NP_014328.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G54220¹	dihydrolipoyllysine-residue acetyltransferase component 3 of pyruvate dehydrogenase complex less	53.98(n) 49.65(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)
About This Section

Paralogs for DLAT gene

PDHX² DBT²

1 SIMAP similar gene for DLAT using alignment to 6 protein entries: ODP2_HUMAN (see all proteins):

PDHX

DLAT for paralogs About GeneDecksing

(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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs555546^1,2	C,F,A,H	--	107817811(+)	`CCATTA/GTGTTA`	1	--	us2k¹ tfbs³		12		NS EA NA WA	1302
rs73561949^1,2	C	--	107818049(+)	`TCGCCA/GTCTCT`	1	--	us2k¹		3		WA NA	240
rs12099187^1,2		--	107818583(+)	`tgagaC/Ttccat`	1	--	us2k¹		0	--	--	--	--
rs78290067^1,2	C	--	107819014(+)	`GCTCCT/CGGCTA`	1	--	us2k¹		2		CSA WA	120
rs73561950^1,2	C,F	--	107819216(+)	`TAGATG/TACTTT`	1	--	us2k¹		4		WA CSA NA	242
rs78298568^1,2	C	--	107819622(+)	`TCCATC/TCCCCT`	1	--	ut5¹		2		WA	120
rs670838^1,2	C,F,A	--	107820824(-)	`TGGGAA/GCTAGG`	1	--	int¹		2		NA WA	208
rs537057^1,2	H	--	107820958(+)	`GCCTTC/TTTTTT`	2	S F	mis¹ trp³		4		NS EA	406
rs537060^1,2	H	--	107820960(+)	`CTTTTC/TTTTCC`	2	L F	mis¹ trp³		4		NS EA	406
rs2553933^1,2	C,H	--	107821017(-)	`GATTTT/GGTCCC`	2	/K /Q	mis¹		4		NS EA	406

HapMap Linkage Disequilibrium report for DLAT (111895538 - 111935114 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DLAT: --
Human Gene Mutation Database (HGMD): DLAT

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLAT

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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

DLAT for disorders           About GeneDecksing

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

Defects in DLAT are the cause of pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]; also

known as lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex. 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

20/25 diseases for DLAT (see all 25): About MalaCards

primary biliary cirrhosis lactic acidosis liver disease pyruvate decarboxylase deficiency

lipoamide dehydrogenase deficiency mycobacterium gordonae ulnar neuropathy cholangitis

sjogren's syndrome dilated cardiomyopathy hepatitis c hepatocellular carcinoma

autoimmune hepatitis epididymitis hypotonia cardiomyopathy

hepatitis vaginitis myopathy neuropathy

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

Primary biliary cirrhosis Pyruvate decarboxylase deficiency Ulnar neuropathy

10/12 Novoseek 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)

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)
About This Section

PubMed articles for DLAT gene, integrated from 9 sources (see all 188):
(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. (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. (2005)
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. (2005)
Three-dimensional structure of the major autoantigen in primary biliary cirrhosis. (PubMed id 9649469)^{1, 2} Howard M.J.... Yeaman S.J. (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. (1993)
Primary structure of the human M2 mitochondrial autoantigen of primary biliary cirrhosis: dihydrolipoamide acetyltransferase. (PubMed id 3174635)^{1, 2} Coppel R.L.... Gershwin M.E. (1988)
Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex. (PubMed id 3191998)^{1, 2} Thekkumkara T.J.... Patel M.S. (1988)
Catalytic domain of PDC-E2 contains epitopes recogniz ed by antimitochondrial antibodies in primary biliary cirrhosis. (PubMed id 20180236)^{1, 9} Braun S....Klein R. (2010)
Apotopes and the biliary specificity of primary biliary cirrhosis. (PubMed id 19185000)^{1, 9} Lleo A....Gershwin M.E. (2009)
Comprehensive mapping of HLA-A0201-restricted CD8 T-cell epitopes on PDC-E2 in primary biliary cirrhosis. (PubMed id 12395322)^{1, 9} Matsumura S....Gershwin M.E. (2002)

(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: 1737	HGNC: 2896	AceView: DLAT	Ensembl:ENSG00000150768	euGenes: HUgn1737
ECgene: DLAT	Kegg: 1737	H-InvDB: DLAT

(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 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:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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dihydrolipoamide S-acetyltransferase

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DLAT Gene

dihydrolipoamide S-acetyltransferase

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