DLAT - dihydrolipoamide S-acetyltransferase Gene

Also Known as E2; PBC; DLTA; PDCE2; PDC-E2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1737

About DLAT

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,025,408-112,064,404 (from NCBI)

This gene has 19 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 30.4), fat (RPKM 17.2) and 24 other tissues.

Summary

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]

DLAT Products (13)

mRNA	Protein	Name
NM_001372031.1	NP_001358960.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 1 precursor
NM_001372032.1	NP_001358961.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 3 precursor
NM_001372033.1	NP_001358962.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 4
NM_001372034.1	NP_001358963.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 5
NM_001372035.1	NP_001358964.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 6
NM_001372036.1	NP_001358965.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 7
NM_001372037.1	NP_001358966.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 8
NM_001372038.1	NP_001358967.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 9
NM_001372039.1	NP_001358968.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 10
NM_001372040.1	NP_001358969.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 11
NM_001372041.1	NP_001358970.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 12
NM_001372042.1	NP_001358971.1	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 13
NM_001931.5	NP_001922.2	dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables dihydrolipoyllysine-residue acetyltransferase activity	IDA IDA: Inferred from direct assay	9045657	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18184587	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15861126	GOA
contributes to pyruvate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	9242632	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in acetyl-CoA biosynthetic process from pyruvate	IDA IDA: Inferred from direct assay	24534072	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of pyruvate dehydrogenase complex	IDA IDA: Inferred from direct assay	9242632	GOA
part of pyruvate dehydrogenase complex	IPI IPI: Inferred from physical interaction	19240034	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLAT Protein Structure

Biotin_lipoyl

E3_binding

2-oxoacid_dh

0
100
200
300
400
500
600
647 a.a.

Protein Preferred Names	Protein Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial	70 kDa mitochondrial autoantigen of primary biliary cirrhosis

DLAT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	DLAT	P10515	PDHB	Homo sapiens	P11177	GMS	18206651
Intra	DLAT	P10515	PDHB	Homo sapiens	P11177	SPR	18206651
Intra	DLAT	P10515	PDK3	Homo sapiens	Q15120	X-Ray Diffraction	17683942
Intra	DLAT	P10515	SIRT4	Homo sapiens	Q9Y6E7	Confocal	25525879
Intra	DLAT	P10515	SIRT4	Homo sapiens	Q9Y6E7	Anti Bait CoIP	25525879
Intra	DLAT	P10515	DLAT	Homo sapiens	P10515	3D-EM	18184588
Intra	DLAT	P10515	DLAT	Homo sapiens	P10515	3D-EM	18184587

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DLAT Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P75286	DLAT Protein, Human (sf9, His)	P10515 (S87-L647)	≥ 85%, as determined by reducing SDS-PAGE.

DLAT Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P80292	Pyruvate Dehydrogenase E2 Antibody (YA113)	WB, IHC-P	Human, Mouse, Rat
HY-P81070	Pyruvate Dehydrogenase E2 Antibody (YA912)	WB, ICC/IF, IP	Human, Mouse
HY-P81070A	Pyruvate Dehydrogenase E2 Antibody (YA912)(PBS only)	WB, ICC/IF, IP	Human, Mouse
HY-P85448	Pyruvate Dehydrogenase E2 Antibody (YA5140)	WB	Human, Rabbit
HY-P85556	Pyruvate Dehydrogenase E2 Antibody (YA5248)	WB, ICC/IF, IP	Human, Mouse

Related Diseases

Diseases	Alias
Pyruvate Dehydrogenase E2 Deficiency	Lactic Acidemia Due To Defect Of E2 Lipoyl Transacetylase Of The Pyruvate Dehydrogenase Complex PDHDD Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Deficiency Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Deficiency Pyruvate Dehydrogenase Complex Component E2 Deficiency PDHE2 DEFICIENCY
Cholangitis	Acute Cholangiolitis Ascending Cholangitis Cholangiolitis Cholangitis Nos Chronic Cholangiolitis Hepatic Duct Inflammation Acute Cholangitis Bile Duct Inflammation
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Autoimmune Hepatitis	Aih Hepatitis, Autoimmune Autoimmune Chronic Active Hepatitis Autoimmune Hepatitis With Centrilobular Necrosis Autoimmune Chronic Hepatitis Hepatitis Autoimmune
Autoimmune Cholangitis	Autoimmune Cholangiopathy
Suppurative Cholangitis
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Ulnar Neuropathy	Ulnar Neuropathies
Ulnar Nerve Lesion	Lesion Of Ulnar Nerve Mononeuritis Ulnar Nerve Tardy Ulnar Nerve Palsy
Chronic Cholangitis
Chancroid	Ulcus Molle, Skin Chancroids Bubo Due To Haemophilus Ducreyi Soft Chancre Ulcus Molle
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Combined Oxidative Phosphorylation Deficiency 33	COXPD33
Autoimmune Disease Of Gastrointestinal Tract
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
Nystagmus 3, Congenital, Autosomal Dominant	NYS3 Congenital Nystagmus 3 Autosomal Dominant Congenital Nystagmus 3
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Amelogenesis Imperfecta, Type Ie	Aih1 Amelogenesis Imperfecta Type 1e AI1E Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1 Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth Enamel Hypoplasia, X-Linked Amelogenesis Imperfecta Type Ie Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1 Enamel Hypoplasia X-Linked Amelogenesis Imperfecta, X-Linked 1 Amelogenesis Imperfecta, Type 1e Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth X-Linked Amelogenesis Imperfecta 1 X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1 X-Linked Enamel Hypoplasia Amelogenesis Imperfecta X-Linked 1 Amelogenesis Imperfecta 1e Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth Xai X-Linked Amelogenesis Imperfecta Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-162386	UM4118		99.95%	Unkown
HY-RS03792	DLAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-178914	Copper ionophore I		99.9%	Unkown
HY-RS17105	Dlat Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-116330	Hyperforin		/	Unkown
HY-RS23549	Dlat Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DLAT	RGD	RGD:619859
Canis familiaris	DLAT	VGNC	VGNC:39974
Bos taurus	DLAT	VGNC	VGNC:109392
Macaca mulatta	DLAT	VGNC	VGNC:110501
Felis catus	DLAT	VGNC	VGNC:61508
Mus musculus	DLAT	MGD	MGI:2385311
Others	DLAT	NCBI