Human Gene DLAT (ENST00000280346.11) Description and Page Index
  Description: Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), transcript variant 14, non-coding RNA. (from RefSeq NR_164072)
RefSeq Summary (NM_001931): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000280346.11
Gencode Gene: ENSG00000150768.16
Transcript (Including UTRs)
   Position: hg38 chr11:112,025,408-112,064,404 Size: 38,997 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr11:112,025,473-112,062,535 Size: 37,063 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:112,025,408-112,064,404)mRNA (may differ from genome)Protein (647 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Dihydrolipoamide S-acetyltransferase; SubName: Full=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial; SubName: Full=cDNA FLJ32737 fis, clone TESTI2001269, highly similar to Homo sapiens dihydrolipoamide S-acetyltransferase, mRNA;
SIMILARITY: Belongs to the 2-oxoacid dehydrogenase family.
SIMILARITY: Contains 2 lipoyl-binding domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: DLAT
Diseases sorted by gene-association score: pyruvate dehydrogenase e2 deficiency* (1380), primary biliary cirrhosis (74), liver disease (20), autoimmune disease of urogenital tract (20), cholangitis (19), mycobacterium gordonae (18), suppurative cholangitis (16), autoimmune hepatitis (14), cholangitis, primary sclerosing (10), vaginitis (7), chancroid (6), lactic acidosis (5), hypersensitivity reaction type ii disease (3), hypersensitivity reaction disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.76 RPKM in Heart - Left Ventricle
Total median expression: 327.25 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.0065-0.323 Picture PostScript Text
3' UTR -377.401869-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003016 - 2-oxoA_DH_lipoyl-BS
IPR001078 - 2-oxoacid_DH_actylTfrase
IPR006257 - AcTrfase_Pyrv_DH_cplx_L
IPR000089 - Biotin_lipoyl
IPR023213 - CAT-like_dom
IPR004167 - E3-bd
IPR011053 - Single_hybrid_motif

Pfam Domains:
PF00198 - 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
PF00364 - Biotin-requiring enzyme
PF02817 - e3 binding domain

ModBase Predicted Comparative 3D Structure on Q86YI5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0006086 acetyl-CoA biosynthetic process from pyruvate
GO:0006090 pyruvate metabolic process
GO:0008152 metabolic process
GO:0030431 sleep

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0043209 myelin sheath
GO:0045254 pyruvate dehydrogenase complex

-  Descriptions from all associated GenBank mRNAs
  AK057299 - Homo sapiens cDNA FLJ32737 fis, clone TESTI2001269, highly similar to Homo sapiens dihydrolipoamide S-acetyltransferase, mRNA.
LF384548 - JP 2014500723-A/192051: Polycomb-Associated Non-Coding RNAs.
MA620125 - JP 2018138019-A/192051: Polycomb-Associated Non-Coding RNAs.
AK303930 - Homo sapiens cDNA FLJ51184 complete cds, highly similar to Homo sapiens dihydrolipoamide S-acetyltransferase, mRNA.
AK296274 - Homo sapiens cDNA FLJ50978 complete cds, highly similar to Dihydrolipoyllysine-residue acetyltransferasecomponent of pyruvate dehydrogenase complex, mitochondrial precursor (EC
AK297103 - Homo sapiens cDNA FLJ57320 complete cds, highly similar to Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor (EC
AF317200 - Homo sapiens pyruvate dehydrogenase complex component E2 precursor, mRNA, partial cds.
AK223596 - Homo sapiens mRNA for dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) variant, clone: FCC131D03.
AL832703 - Homo sapiens mRNA; cDNA DKFZp313A1135 (from clone DKFZp313A1135).
BC039084 - Homo sapiens dihydrolipoamide S-acetyltransferase, mRNA (cDNA clone MGC:34685 IMAGE:4508489), complete cds.
DQ895658 - Synthetic construct Homo sapiens clone IMAGE:100010118; FLH186405.01L; RZPDo839E0361D dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) (DLAT) gene, encodes complete protein.
DQ892447 - Synthetic construct clone IMAGE:100005077; FLH186409.01X; RZPDo839E0371D dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) (DLAT) gene, encodes complete protein.
CU691660 - Synthetic construct Homo sapiens gateway clone IMAGE:100019976 5' read DLAT mRNA.
KJ904451 - Synthetic construct Homo sapiens clone ccsbBroadEn_13845 DLAT gene, encodes complete protein.
Y00978 - Human mRNA for dihydrolipoamide acetyltransferase (PDC-E2) (EC
AK299562 - Homo sapiens cDNA FLJ51063 complete cds, highly similar to Dihydrolipoyllysine-residue acetyltransferasecomponent of pyruvate dehydrogenase complex, mitochondrial precursor (EC
Z48500 - H.sapiens mRNA for mammary dihydrolipoamide acetyltransferase, mature sequence.
J03866 - Homo sapiens M2 mitochondrial autoantigen dihydrolipoamide acetyltransferase mRNA, complete cds.
LF376930 - JP 2014500723-A/184433: Polycomb-Associated Non-Coding RNAs.
MA612507 - JP 2018138019-A/184433: Polycomb-Associated Non-Coding RNAs.
LF376928 - JP 2014500723-A/184431: Polycomb-Associated Non-Coding RNAs.
MA612505 - JP 2018138019-A/184431: Polycomb-Associated Non-Coding RNAs.
X13822 - H.sapiens mRNA for dihydrolipoamide S-acetyltransferase.
LF376924 - JP 2014500723-A/184427: Polycomb-Associated Non-Coding RNAs.
MA612501 - JP 2018138019-A/184427: Polycomb-Associated Non-Coding RNAs.
LF376923 - JP 2014500723-A/184426: Polycomb-Associated Non-Coding RNAs.
MA612500 - JP 2018138019-A/184426: Polycomb-Associated Non-Coding RNAs.
JD489734 - Sequence 470758 from Patent EP1572962.
LF376922 - JP 2014500723-A/184425: Polycomb-Associated Non-Coding RNAs.
MA612499 - JP 2018138019-A/184425: Polycomb-Associated Non-Coding RNAs.
JD219273 - Sequence 200297 from Patent EP1572962.
JD046561 - Sequence 27585 from Patent EP1572962.
JD379010 - Sequence 360034 from Patent EP1572962.
LF376921 - JP 2014500723-A/184424: Polycomb-Associated Non-Coding RNAs.
MA612498 - JP 2018138019-A/184424: Polycomb-Associated Non-Coding RNAs.
JD349660 - Sequence 330684 from Patent EP1572962.
JD295240 - Sequence 276264 from Patent EP1572962.
JD168726 - Sequence 149750 from Patent EP1572962.
JD313199 - Sequence 294223 from Patent EP1572962.
JD328460 - Sequence 309484 from Patent EP1572962.
JD184569 - Sequence 165593 from Patent EP1572962.
JD359537 - Sequence 340561 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00020 - Citrate cycle (TCA cycle)
hsa00620 - Pyruvate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
PYRUVDEHYD-PWY - pyruvate decarboxylation to acetyl CoA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000280346.1, ENST00000280346.10, ENST00000280346.2, ENST00000280346.3, ENST00000280346.4, ENST00000280346.5, ENST00000280346.6, ENST00000280346.7, ENST00000280346.8, ENST00000280346.9, NR_164072, Q86YI5, Q86YI5_HUMAN, uc001pmo.1, uc001pmo.2, uc001pmo.3, uc001pmo.4, uc001pmo.5
UCSC ID: ENST00000280346.11
RefSeq Accession: NM_001931
Protein: Q86YI5 CCDS: CCDS8354.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.