DLAT Gene
protein-coding GIFtS: 64
GCID: GC11P111895
|
|
dihydrolipoamide S-acetyltransferase
(Previous symbol: DLTA)
| |
Aliases
for DLAT gene
(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 PyruvateDehydrogenase Complex Mitochondrial2 | | Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex2 3 | | Dihydrolipoyllysine-Residue Acetyltransferase Component Of PyruvateDehydrogenase 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 |
Export aliases for DLAT gene to outside databasesPrevious GC identifers: GC11P114248 GC11P113407 GC11P111929 GC11P111433 GC11P111401 GC11P107819 |
Summaries
for DLAT gene(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 innermitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of thisgene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvateand 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 isabnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this geneare also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and earlychildhood.(provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), andthereby links the glycolytic pathway to the tricarboxylic cycle
Gene Wiki entry for DLAT (Dihydrolipoyl transacetylase)
|
Genomic Views
for DLAT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 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
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: 11q23.1DLAT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for DLAT gene
(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 toan 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 Q53EP3Explore the universe of human proteins at neXtProt for DLAT: NX_P10515
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P10515
4/10 DME Specific Peptides for DLAT (P10515) (see all 10)
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:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
DLAT for ontologies About GeneDecksing
DLAT Antibody Products:
Assay Products for DLAT: |
Protein
Domains /
Families
for DLAT gene(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):Graphical View of Domain Structure for InterPro Entry P10515ProtoNet 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, P10515Similarity: Belongs to the 2-oxoacid dehydrogenase familySimilarity: Contains 2 lipoyl-binding domains |
Function
for DLAT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ODP2_HUMAN, P10515Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), andthereby links the glycolytic pathway to the tricarboxylic cycleCatalytic activity: Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysineEnzyme Numbers (IUBMB): EC 2.3.1.121 2 EC 2.3.12
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 
| |  | GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DLAT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
DLAT for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for DLAT:
|
Pathways & Interactions
for DLAT gene
(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 |
|---|
| 1 | TCA Cycle | | | 2 | Pyruvate metabolism | | | 3 | Metabolism | | | 4 | Glycolysis and gluconeogenesis (short map) | | | 5 | Glucose / Energy Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for DLAT
3  BioSystems Pathways for DLAT
5 
Reactome Pathways for DLAT
4 
Kegg Pathways (Kegg details for DLAT):
DLAT for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM 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 (P105152, 3 ENSP000002803464) via UniProtKB, MINT, STRING, and/or I2D (see all 143)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
|
Drugs & Compounds
for DLAT gene(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 Tocris compounds for DLAT
10/11 HMDB Compounds for DLAT (see all 11) About this table
3 DrugBank Compounds for DLAT About this table
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
|
Transcripts
for DLAT gene(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,
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_0019316 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000280346(uc001pmo.3 uc010rwr.2 uc021qqn.1) ENST00000533297
ENST00000393051 ENST00000531306 ENST00000527231 ENST00000537636
Clone
Products: | | 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
| | | GenScript: all cDNA clones in your preferred vector: DLAT (NM_001931) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DLAT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT |
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
|
Expression
for DLAT gene
(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:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLAT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DLAT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLAT | | | 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
for DLAT gene
(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) more |
77.53(n) |
|
AY188775.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG52611 , 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 more3
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 more4
Lat1p1 |
52.38(n)1
47(a)1 |
|
14(491523-492971)4
8556531, 4 NP_014328.31 NP_014328.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G542201 |
dihydrolipoyllysine-residue acetyltransferase component more |
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
for DLAT gene(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 E9PKC7_HUMAN F5H7M3_HUMAN Q86YI5_HUMAN E9PEJ4_HUMAN H0YDD4_HUMAN(see first protein):PDHX
DLAT for paralogs About GeneDecksing
|
Genomic Variants
for DLAT gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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 |
|
Disorders
/ Diseases
for DLAT gene
(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 thepresence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration ofintra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis showautoantibodies against the E2 component of pyruvate dehydrogenase complex Defects in DLAT are the cause of pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]; alsoknown as lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex. Pyruvatedehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy andearly childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with othermore common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent
20/25  diseases for DLAT (see all 25): About MalaCardsprimary 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
Human Genome Epidemiology (HuGE) Navigator: DLAT (5 documents)
Export disorders for DLAT gene to outside databases
|
Publications
for DLAT gene (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)
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External Searches for DLAT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DLAT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DLAT gene
(According to HUGE)
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Specialized Databases showing DLAT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DLAT | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for DLAT gene:
Search GeneIP for patents involving DLAT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DLAT gene(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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DLAT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLAT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLAT | | | OriGene Protein Over-expression Lysate for DLAT | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DLAT | | OriGene 3'-UTR Clone for DLAT | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLAT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLAT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DLAT | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DLAT | | OriGene Custom Protein Services for DLAT | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DLAT | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLAT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLAT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLAT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLAT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLAT |
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| | Antibodies & Assays for DLAT |
| | | | Search Tocris compounds for DLAT |
| |  |  |  |  | | | | | | Recombinant Protein for DLAT |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLAT |
|  |  |  | | | | ThermoFisher Antibody for DLAT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLAT |
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