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Aliases for DLAT Gene

Aliases for DLAT Gene

  • Dihydrolipoamide S-Acetyltransferase 2 3 5
  • Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex 3 4
  • 70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
  • E2 Component Of Pyruvate Dehydrogenase Complex 2 3
  • Pyruvate Dehydrogenase Complex Component E2 3 4
  • M2 Antigen Complex 70 KDa Subunit 3 4
  • EC 2.3.1.12 4 63
  • PDC-E2 3 4
  • PDCE2 3 4
  • DLTA 3 4
  • PBC 3 4
  • Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Mitochondrial 3
  • EC 2.3.1 63

External Ids for DLAT Gene

Previous HGNC Symbols for DLAT Gene

  • DLTA

Previous GeneCards Identifiers for DLAT Gene

  • GC11P114248
  • GC11P113407
  • GC11P111929
  • GC11P111433
  • GC11P111401
  • GC11P107819
  • GC11P111895

Summaries for DLAT Gene

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 Pyruvate Dehydrogenase E2 Deficiency and Primary Biliary Cirrhosis. Among its related pathways are Glucose / Energy Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is DBT.

UniProtKB/Swiss-Prot for DLAT Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLAT Gene

Genomics for DLAT Gene

Regulatory Elements for DLAT Gene

Enhancers for DLAT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLAT on UCSC Golden Path with GeneCards custom track

Promoters for DLAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLAT on UCSC Golden Path with GeneCards custom track

Genomic Location for DLAT Gene

Chromosome:
11
Start:
112,024,814 bp from pter
End:
112,064,390 bp from pter
Size:
39,577 bases
Orientation:
Plus strand

Genomic View for DLAT Gene

Genes around DLAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLAT Gene

Proteins for DLAT Gene

  • Protein details for DLAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10515-ODP2_HUMAN
    Recommended name:
    Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Protein Accession:
    P10515
    Secondary Accessions:
    • Q16783
    • Q53EP3

    Protein attributes for DLAT Gene

    Size:
    647 amino acids
    Molecular mass:
    68997 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • 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. Interacts with SIRT4 (PubMed:25525879).
    SequenceCaution:
    • Sequence=AAA62253.1; Type=Frameshift; Positions=449, 451, 455; Evidence={ECO:0000305}; Sequence=AAA62253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLAT Gene

neXtProt entry for DLAT Gene

Proteomics data for DLAT Gene at MOPED

Post-translational modifications for DLAT Gene

  • Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLAT Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLAT (DLAT)

Domains & Families for DLAT Gene

Graphical View of Domain Structure for InterPro Entry

P10515

UniProtKB/Swiss-Prot:

ODP2_HUMAN :
  • Contains 2 lipoyl-binding domains.
  • Belongs to the 2-oxoacid dehydrogenase family.
Domain:
  • Contains 2 lipoyl-binding domains.
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with DLAT: view

No data available for Gene Families for DLAT Gene

Function for DLAT Gene

Molecular function for DLAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DLAT Gene

genes like me logo Genes that share phenotypes with DLAT: view

Human Phenotype Ontology for DLAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DLAT Gene

Localization for DLAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLAT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLAT Gene COMPARTMENTS Subcellular localization image for DLAT gene
Compartment Confidence
mitochondrion 5
cytosol 1

Gene Ontology (GO) - Cellular Components for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with DLAT: view

Pathways & Interactions for DLAT Gene

genes like me logo Genes that share pathways with DLAT: view

Gene Ontology (GO) - Biological Process for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IEA --
GO:0006090 pyruvate metabolic process IEA,TAS --
GO:0008152 metabolic process IEA --
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
genes like me logo Genes that share ontologies with DLAT: view

No data available for SIGNOR curated interactions for DLAT Gene

Drugs & Compounds for DLAT Gene

(11) Drugs for DLAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra 0
Dihydrolipoate Experimental Pharma Target 0
Radicicol Experimental Pharma Target Hsp90 inhibitor. Antifungal antibiotic 0
alpha-ketoisovalerate Experimental Pharma 0
NADH Nutra Target 0

(11) Additional Compounds for DLAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Dihydrolipoamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-Octanamide
  • 6,8-Dimercaptooctanamide
  • 6,8-Disulfanyloctanamide
  • Dihydrolipoamide
3884-47-7
(R)-lipoic acid
  • (+)-alpha-Lipoic acid
  • (R)-(+)-lipoic acid
  • (R)-1,2-Dithiolane-3-pentanoic acid
  • (R)-1,2-dithiolane-3-valeric acid
  • (R)-6,8-thioctic acid
1200-22-2
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
S-Acetyldihydrolipoamide
  • 6-Acetylsulfanyl-8-sulfanyl-octanamide
  • 6-S-Acetyldihydrolipoamide
  • S-Acetyldihydrolipoamide
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioate
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioic acid
genes like me logo Genes that share compounds with DLAT: view

Transcripts for DLAT Gene

Unigene Clusters for DLAT Gene

Dihydrolipoamide S-acetyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DLAT Gene

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

Relevant External Links for DLAT Gene

GeneLoc Exon Structure for
DLAT
ECgene alternative splicing isoforms for
DLAT

Expression for DLAT Gene

mRNA expression in normal human tissues for DLAT Gene

mRNA differential expression in normal tissues according to GTEx for DLAT Gene

This gene is overexpressed in Heart - Left Ventricle (x5.6) and Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for DLAT Gene

This gene is overexpressed in Heart (18.7) and Nasal epithelium (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DLAT Gene



SOURCE GeneReport for Unigene cluster for DLAT Gene Hs.335551

genes like me logo Genes that share expression patterns with DLAT: view

Protein tissue co-expression partners for DLAT Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DLAT Gene

Orthologs for DLAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLAT 35
  • 90.42 (n)
  • 89.64 (a)
-- 36
  • 78 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DLAT 35
  • 90.37 (n)
  • 89.49 (a)
DLAT 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlat 35
  • 84.84 (n)
  • 86.14 (a)
Dlat 16
Dlat 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DLAT 35
  • 99.28 (n)
  • 99.23 (a)
DLAT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlat 35
  • 83.65 (n)
  • 84.97 (a)
oppossum
(Monodelphis domestica)
Mammalia DLAT 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLAT 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLAT 35
  • 72.91 (n)
  • 79 (a)
DLAT 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLAT 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlat 35
  • 69.41 (n)
  • 76.97 (a)
Str.13849 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398314 35
zebrafish
(Danio rerio)
Actinopterygii dlat 35
  • 71.42 (n)
  • 79.78 (a)
Dr.2810 35
dlat 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10771 35
fruit fly
(Drosophila melanogaster)
Insecta CG5261 37
  • 52 (a)
CG5261 35
  • 56.42 (n)
  • 54.69 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007975 35
  • 56.51 (n)
  • 58.14 (a)
worm
(Caenorhabditis elegans)
Secernentea C30H6.7 37
  • 39 (a)
F23B12.5 37
  • 53 (a)
dlat-1 35
  • 58.91 (n)
  • 61.05 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER364W 35
  • 51.38 (n)
  • 49.27 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04741g 35
  • 52.69 (n)
  • 46.14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAT1 35
  • 50.65 (n)
  • 45.98 (a)
KGD2 36
  • 26 (a)
OneToMany
LAT1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G54220 35
  • 53.91 (n)
  • 49.88 (a)
rice
(Oryza sativa)
Liliopsida Os07g0410100 35
  • 52.84 (n)
  • 48.68 (a)
corn
(Zea mays)
Liliopsida Zm.455 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07659 35
  • 51.74 (n)
  • 50.61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lat1 35
  • 53.4 (n)
  • 47.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8267 36
  • 53 (a)
OneToOne
Species with no ortholog for DLAT:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLAT Gene

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

Paralogs for DLAT Gene

Paralogs for DLAT Gene

(1) SIMAP similar genes for DLAT Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DLAT: view

Variants for DLAT Gene

Sequence variations from dbSNP and Humsavar for DLAT Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs2303436 - 112,025,600(-) GACGA(A/G)CGGGA reference, missense
rs537057 - 112,026,211(+) GCCTT(C/T)TTTTT reference, missense
rs537060 - 112,026,213(+) CTTTT(C/T)TTTCC reference, missense
rs11553595 - 112,028,911(+) TGCTC(A/G)GGCTC reference, missense
rs11553592 - 112,037,423(+) AACAG(A/T)TTTAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DLAT Gene

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

Variation tolerance for DLAT Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.30; 98.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLAT Gene

Human Gene Mutation Database (HGMD)
DLAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLAT Gene

Disorders for DLAT Gene

MalaCards: The human disease database

(14) MalaCards diseases for DLAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pyruvate dehydrogenase e2 deficiency
  • dihydrolipoamide acetyltransferase deficiency
primary biliary cirrhosis
  • biliary liver cirrhosis
cholangitis
liver disease
  • disorder of liver
autoimmune disease of urogenital tract
- elite association - COSMIC cancer census association via MalaCards
Search DLAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODP2_HUMAN
  • 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. {ECO:0000269 PubMed:16049940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DLAT

Genetic Association Database (GAD)
DLAT
Human Genome Epidemiology (HuGE) Navigator
DLAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLAT
genes like me logo Genes that share disorders with DLAT: view

No data available for Genatlas for DLAT Gene

Publications for DLAT Gene

  1. 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. (PMID: 14638692) Hiromasa Y. … Roche T.E. (J. Biol. Chem. 2004) 3 4 23 67
  2. Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis. (PMID: 20180236) Braun S. … Klein R. (World J. Gastroenterol. 2010) 3 23
  3. Apotopes and the biliary specificity of primary biliary cirrhosis. (PMID: 19185000) Lleo A. … Gershwin M.E. (Hepatology 2009) 3 23
  4. Differential epitope mapping of antibodies to PDC-E2 in patients with hematologic malignancies after allogeneic hematopoietic stem cell transplantation and primary biliary cirrhosis. (PMID: 17068145) Bellucci R. … Ritz J. (Blood 2007) 3 23
  5. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PMID: 16049940) Head R.A. … Brown G.K. (Ann. Neurol. 2005) 3 23

Products for DLAT Gene

Sources for DLAT Gene

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