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 56
External Ids for DLAT Gene
- HGNC: 2896
- Entrez Gene: 1737
- Ensembl: ENSG00000150768
- OMIM: 608770
- UniProtKB: P10515
Previous HGNC Symbols for DLAT Gene
- DLTA
Previous GeneCards Identifiers for DLAT Gene
- GC11P114248
- GC11P113407
- GC11P111929
- GC11P111433
- GC11P111401
- GC11P107819
- GC11P111895
Summaries 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 Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is PDHX.
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.
Additional gene information for DLAT Gene
- Monarch Initiative
- Search for DLAT at DataMed
- Search for DLAT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLAT Gene
Genomics for DLAT Gene
GeneHancer (GH) Regulatory Elements for DLAT Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11I112023 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 550.8 | +0.3 | 318 | 2.5 | HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 | DLAT PPP2R1B FDXACB1 ALG9 PIH1D2 NKAPD1 DIXDC1 IL18 CRYAB C11orf52 | |
GH11I112024 | Enhancer | 0.2 | Ensembl | 550.8 | -1.1 | -1113 | 0.2 | DLAT NKAPD1 PIH1D2 GC11M112018 | ||
GH11I111908 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE dbSUPER | 4.7 | -113.0 | -113011 | 6.3 | HDAC1 HDGF NFXL1 TCF12 GATA2 SCRT2 CREM ZNF263 ZBTB2 NCOA1 | HSPB2 HSPB2-C11orf52 CRYAB PPP2R1B C11orf52 DLAT RPL37AP8 | |
GH11I112041 | Enhancer | 0.8 | ENCODE | 10.3 | +17.9 | 17870 | 1.4 | HDAC1 HDGF ATF1 TEAD4 JUN E4F1 FOSL1 ZNF316 ZSCAN29 FOS | PIH1D2 NKAPD1 ENSG00000255292 TIMM8B SDHD DLAT TEX12 ENSG00000271025 | |
GH11I111997 | Enhancer | 0.4 | Ensembl | 4.5 | -27.4 | -27413 | 0.4 | CTCF HNF4A | DLAT ENSG00000255334 ENSG00000255286 DIXDC1 |
Regulatory Element Products
Genomic Locations for DLAT Gene
- chr11:112,024,814-112,064,390
- (GRCh38/hg38)
- Size:
- 39,577 bases
- Orientation:
- Plus strand
- chr11:111,895,538-111,935,114
- (GRCh37/hg19)
Genomic View for DLAT Gene
- Cytogenetic band:
-
- 11q23.1 by Ensembl
- 11q23.1 by Entrez Gene
- 11q23.1 by HGNC


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
- 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 (subunits PDH1A and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (PubMed:14638692). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules (PubMed:14638692, PubMed:20361979). Interacts with PDK2 and PDK3 (PubMed:15861126, PubMed:17532006, PubMed:17683942, PubMed:18387944). Interacts with SIRT4 (PubMed:25525879). Interacts with PDHB (PubMed:20160912).
- 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};
Protein Expression for DLAT Gene
Selected DME Specific Peptides for DLAT Gene
- P10515:
-
- DHRVVDGA
- VTLSCDHR
- AIINPPQ
- SKQTIPH
- VDVSVAVSTPAGLITPI
- PHEFQGGTF
- GTFTISN
- DHRVVDG
- NDFIIKASALAC
- KAREGKL
Post-translational modifications for DLAT Gene
- Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity.
Other Protein References for DLAT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for DLAT (DLAT)
- Novus Biologicals Antibodies for DLAT
-
Abcam antibodies for DLAT
-
Cloud-Clone Corp. Antibodies for DLAT
- Invitrogen Antibodies for DLAT
- GeneTex DLAT antibody for DLAT
-
Santa Cruz Biotechnology (SCBT) Antibodies for DLAT
Protein Products
-
OriGene Purified Proteins for DLAT
- Search Origene for MassSpec and Protein Over-expression Lysates for DLAT
- Origene Custom Protein Services for DLAT
- ProSpec Recombinant Proteins for DLAT
-
Cloud-Clone Corp. Proteins for DLAT
- Search GeneTex for Proteins for DLAT
-
Abcam proteins for DLAT
Assay Products
- antibodies-online: Search results for 10 available DLAT Elisa Kits ranked by validation data
- Compare Top DLAT Elisa Kits
-
Quality Products:
Domains & Families for DLAT Gene
Gene Families for DLAT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DLAT Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DLAT Gene
Graphical View of Domain Structure for InterPro Entry
P10515- Family:
-
- Belongs to the 2-oxoacid dehydrogenase family.
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
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004742 | dihydrolipoyllysine-residue acetyltransferase activity | NAS | 3191998 |
GO:0005515 | protein binding | IPI | 15861126 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO:0034604 | contributes_to pyruvate dehydrogenase (NAD+) activity | IDA | 9242632 |
Phenotypes for DLAT Gene
- GenomeRNAi human phenotypes for DLAT:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with imatinib mesylate
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DLAT
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DLAT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DLAT gene
- Search ViGene Biosciences for DLAT
CRISPR Products
-
OriGene CRISPR knockouts for DLAT
- genomics-online: gRNA clones - Search results for available DLAT gene related products
- Applied Biological Materials CRISPR for DLAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLAT
- GenScript: Design CRISPR guide RNA sequences for DLAT
miRNA for DLAT Gene
- miRTarBase miRNAs that target DLAT
miRNA Products
- Search ViGene Biosciences for DLAT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for DLAT
- Browse OriGene Inhibitory RNA Products For DLAT
- genomics-online: shRNA clones - Search results for available DLAT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DLAT gene
Clone Products
- Sino Biological Human cDNA Clone for DLAT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DLAT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DLAT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available DLAT gene related products
- orf clones - Search results for available DLAT gene related products
- Applied Biological Materials Clones for DLAT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DLAT
-
ViGene Biosciences adenoviral particle packaged cDNA for DLAT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DLAT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DLAT gene
No data available for Phenotypes From GWAS Catalog , 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.
- Mitochondria (4)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
GO:0005967 | mitochondrial pyruvate dehydrogenase complex | NAS | 3191998 |
GO:0043209 | myelin sheath | IEA | -- |
GO:0045254 | pyruvate dehydrogenase complex | IDA,IEA | 9242632 |
Pathways & Interactions for DLAT Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Citrate cycle (TCA cycle) | ||
2 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
3 | Glucose metabolism | ||
4 | Metabolism |
.37
|
|
5 | Carbon metabolism |
Pathways by source for DLAT Gene
1 Cell Signaling Technology pathway for DLAT Gene
9 Reactome pathways for DLAT Gene
5 KEGG pathways for DLAT Gene
Interacting Proteins for DLAT Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | IEA | -- |
GO:0006090 | pyruvate metabolic process | IEA,TAS | -- |
GO:0006099 | tricarboxylic acid cycle | IEA | -- |
No data available for SIGNOR curated interactions for DLAT Gene
Drugs & Compounds for DLAT Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Lipoic Acid | Approved, Investigational | Nutra | 0 | |||
Pyruvic acid | Approved, Investigational | Nutra | 0 | |||
Dihydrolipoate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
Dihydrolipoamide |
|
3884-47-7 | ||||
S-Acetyldihydrolipoamide |
|
|
||||
S-Acetyldihydrolipoamide-E |
|
|
Transcripts for DLAT Gene
mRNA/cDNA for DLAT Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (261) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DLAT Gene
CRISPR Products
-
OriGene CRISPR knockouts for DLAT
- genomics-online: gRNA clones - Search results for available DLAT gene related products
- Applied Biological Materials CRISPR for DLAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLAT
- GenScript: Design CRISPR guide RNA sequences for DLAT
miRNA Products
- Search ViGene Biosciences for DLAT
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for DLAT
- Browse OriGene Inhibitory RNA Products For DLAT
- genomics-online: shRNA clones - Search results for available DLAT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DLAT gene
Clone Products
- Sino Biological Human cDNA Clone for DLAT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DLAT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DLAT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available DLAT gene related products
- orf clones - Search results for available DLAT gene related products
- Applied Biological Materials Clones for DLAT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||
SP4: |
Expression for DLAT Gene
mRNA differential expression in normal tissues according to GTEx for DLAT Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DLAT Gene
NURSA nuclear receptor signaling pathways regulating expression of DLAT Gene:
DLATSOURCE GeneReport for Unigene cluster for DLAT Gene:
Hs.335551Evidence on tissue expression from TISSUES for DLAT Gene
- Liver(4.6)
- Kidney(4.3)
- Nervous system(4.1)
- Heart(2.5)
- Blood(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DLAT Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- eye
- eyelid
- face
- head
- lip
- mouth
- salivary gland
- skull
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for DLAT
-
OriGene qPCR primer pairs and template standards for DLAT
- genomics-online: primer clones - Search results for available DLAT gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DLAT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | DLAT 33 |
|
||
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
dog (Canis familiaris) |
Mammalia | DLAT 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Dlat 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DLAT 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DLAT 34 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Dlat 33 |
|
||
chicken (Gallus gallus) |
Aves | DLAT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | DLAT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dlat 33 |
|
||
Str.13849 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398314 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | dlat 33 34 |
|
||
Dr.2810 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10771 33 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007975 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG5261 35 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | dlat-1 33 |
|
||
F23B12.5 35 |
|
|
|||
C30H6.7 35 |
|
|
|||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F04741g 33 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER364W 33 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAT1 33 36 |
|
||
KGD2 34 |
|
OneToMany | |||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G54220 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os07g0410100 33 |
|
||
corn (Zea mays) |
Liliopsida | Zm.455 33 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | lat1 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8267 34 |
|
OneToOne | |
bread mold (Neurospora crassa) |
Ascomycetes | NCU07659 33 |
|
- Species where no ortholog for DLAT was found in the sources mined by GeneCards:
-
- 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)
Paralogs for DLAT Gene
(1) SIMAP similar genes for DLAT Gene using alignment to 6 proteins:
Variants for DLAT Gene
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1052569726 | uncertain-significance, Pyruvate dehydrogenase complex deficiency | 112,025,090(+) | T/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
rs10891314 | likely-benign, benign, not specified, Pyruvate dehydrogenase complex deficiency | 112,045,923(+) | G/A/T | coding_sequence_variant, intron_variant, missense_variant | |
rs114863504 | likely-benign, Pyruvate dehydrogenase complex deficiency | 112,024,836(+) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant | |
rs115067052 | likely-benign, Pyruvate dehydrogenase complex deficiency | 112,025,317(+) | C/G | 5_prime_UTR_variant | |
rs11553595 | benign, likely-benign, not specified, Pyruvate dehydrogenase complex deficiency | 112,028,911(+) | A/G | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662119 | CNV | deletion | 23128226 |
esv2745077 | CNV | deletion | 23290073 |
esv3627749 | CNV | loss | 21293372 |
Additional Variant Information for DLAT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLAT Gene
Disorders for DLAT Gene

(14) MalaCards diseases for DLAT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
pyruvate dehydrogenase e2 deficiency |
|
|
primary biliary cirrhosis |
|
|
autoimmune disease of urogenital tract |
|
|
liver disease |
|
|
cholangitis |
|
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.
Additional Disease Information for DLAT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DLAT Gene
Publications for DLAT Gene
- Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PMID: 16049940) Head RA … Brown GK (Annals of neurology 2005) 3 4 22 58
- 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 TE (The Journal of biological chemistry 2004) 3 4 22 58
- Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity. (PMID: 25525879) Mathias RA … Cristea IM (Cell 2014) 3 4 58
- Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58
- A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PMID: 20673868) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58
Products for DLAT Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for DLAT
- Search Origene for MassSpec and Protein Over-expression Lysates for DLAT
- Origene Custom Protein Services for DLAT
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DLAT
- Browse OriGene Inhibitory RNA Products For DLAT
- OriGene qPCR primer pairs and template standards for DLAT
- OriGene qPCR primer pairs for DLAT
- OriGene CRISPR knockouts for DLAT
- OriGene ORF clones in human for DLAT
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DLAT
- GenScript: Next-day shipping of latest version cDNA ORF clones for DLAT in any vector
- GenScript Custom Purified and Recombinant Proteins Services for DLAT
- GenScript Custom Assay Services for DLAT
- GenScript Custom overexpressing Cell Line Services for DLAT
- GenScript: Design CRISPR guide RNA sequences for DLAT
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for DLAT
- Cell Signaling Technology (CST) Antibodies for DLAT (DLAT)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for DLAT
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for DLAT
- Novus Biologicals lysates and proteins for DLAT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for DLAT
- Abcam proteins for DLAT
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for DLAT
- Cloud-Clone Corp. Antibodies for DLAT
- Cloud-Clone Corp. Proteins for DLAT
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for DLAT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for DLAT
- VectorBuilder custom plasmid, inducible vectors for DLAT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DLAT
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 56 available DLAT Antibodies ranked by validation data
- Compare Top DLAT Antibodies
- antibodies-online: Search results for 10 available DLAT Elisa Kits ranked by validation data
- Compare Top DLAT Elisa Kits
- Quality Products:
- antibodies-online: Search results for 10 available DLAT Proteins ranked by validation data
- Compare Top DLAT Proteins
- Quality Products:
- GeneTex DLAT antibody for DLAT
- Search GeneTex for Proteins for DLAT
- ViGene Biosciences adenoviral particle packaged cDNA for DLAT gene
- ViGene Biosciences lentiviral particle packaged cDNA for DLAT gene
- ViGene Biosciences ready-to-package AAV shRNAs for DLAT gene
- Search ViGene Biosciences for DLAT
- Santa Cruz Biotechnology (SCBT) Antibodies for DLAT
- Search Santa Cruz Biotechnology (SCBT) for DLAT siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DLAT
- Horizon Cell Lines for DLAT
- genomics-online: cdna clones - Search results for available DLAT gene related products
- orf clones - Search results for available DLAT gene related products
- genomics-online: gRNA clones - Search results for available DLAT gene related products
- genomics-online: primer clones - Search results for available DLAT gene related products
- genomics-online: shRNA clones - Search results for available DLAT gene related products
Sources for DLAT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew