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DLAT dihydrolipoamide S-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 1737, updated on 27-Nov-2024

Summary

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Official Symbol
DLATprovided by HGNC
Official Full Name
dihydrolipoamide S-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2896
See related
Ensembl:ENSG00000150768 MIM:608770; AllianceGenome:HGNC:2896
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E2; PBC; DLTA; PDCE2; PDC-E2
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]
Expression
Ubiquitous expression in heart (RPKM 30.4), fat (RPKM 17.2) and 24 other tissues See more
Orthologs
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Genomic context

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See DLAT in Genome Data Viewer
Location:
11q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112025408..112064404)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112035650..112074647)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111896132..111935128)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene chromosome 11 open reading frame 52 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3904 Neighboring gene DIX domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111848219-111848850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5528 Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene PIH1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111958561-111959094 Neighboring gene NKAP domain containing 1 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene succinate dehydrogenase complex subunit D

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Differential epitope mapping of antibodies to PDC-E2 in patients with hematologic malignancies after allogeneic hematopoietic stem cell transplantation and primary biliary cirrhosis. Bellucci R, et al. Blood, 2007 Mar 1. PMID 17068145, Free PMC Article
  2. Apotopes and the biliary specificity of primary biliary cirrhosis. Lleo A, et al. Hepatology, 2009 Mar. PMID 19185000, Free PMC Article
  3. Disease-specific cross-reactivity between mimicking peptides of heat shock protein of Mycobacterium gordonae and dominant epitope of E2 subunit of pyruvate dehydrogenase is common in Spanish but not British patients with primary biliary cirrhosis. Bogdanos DP, et al. J Autoimmun, 2004 Jun. PMID 15120760
  4. Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex. Patel MS, et al. J Mol Catal B Enzym, 2009 Nov 1. PMID 20160912, Free PMC Article
  5. Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis. Braun S, et al. World J Gastroenterol, 2010 Feb 28. PMID 20180236, Free PMC Article

See all (159) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel Insights Into DLAT's Role in Alzheimer's Disease-Related Copper Toxicity Through Microglial Exosome Dynamics.
    Title: Novel Insights Into DLAT's Role in Alzheimer's Disease-Related Copper Toxicity Through Microglial Exosome Dynamics.
  2. DLAT is a promising prognostic marker and therapeutic target for hepatocellular carcinoma: a comprehensive study based on public databases.
    Title: DLAT is a promising prognostic marker and therapeutic target for hepatocellular carcinoma: a comprehensive study based on public databases.
  3. Systematic pan-cancer analysis identifies cuproptosis-related gene DLAT as an immunological and prognostic biomarker.
    Title: Systematic pan-cancer analysis identifies cuproptosis-related gene DLAT as an immunological and prognostic biomarker.
  4. Cuproptosis-Related Gene DLAT as a Novel Biomarker Correlated with Prognosis, Chemoresistance, and Immune Infiltration in Pancreatic Adenocarcinoma: A Preliminary Study Based on Bioinformatics Analysis.
    Title: Cuproptosis-Related Gene DLAT as a Novel Biomarker Correlated with Prognosis, Chemoresistance, and Immune Infiltration in Pancreatic Adenocarcinoma: A Preliminary Study Based on Bioinformatics Analysis.
  5. Roles of cuproptosis-related gene DLAT in various cancers: a bioinformatic analysis and preliminary verification on pro-survival autophagy.
    Title: Roles of cuproptosis-related gene DLAT in various cancers: a bioinformatic analysis and preliminary verification on pro-survival autophagy.
  6. Externalization of Mitochondrial PDCE2 on Irradiated Endothelium as a Target for Radiation-Guided Drug Delivery and Precision Thrombosis of Pathological Vasculature.
    Title: Externalization of Mitochondrial PDCE2 on Irradiated Endothelium as a Target for Radiation-Guided Drug Delivery and Precision Thrombosis of Pathological Vasculature.
  7. p-STAT3 is a PDC-E2 interacting partner in human cholangiocytes and hepatocytes with potential pathobiological implications.
    Title: p-STAT3 is a PDC-E2 interacting partner in human cholangiocytes and hepatocytes with potential pathobiological implications.
  8. DLAT interacts with C1QBP in mitochondria.
    Title: Identification of a novel mitochondrial interacting protein of C1QBP using subcellular fractionation coupled with CoIP-MS.
  9. ongoing activation of PDCE2-specific B-cells in primary biliary cirrhosis
    Title: Ongoing activation of autoantigen-specific B cells in primary biliary cirrhosis.
  10. Results show that DLAT and ACAT2 as upstream acetyltransferases of K76 and K294 in 6PGD protein.
    Title: Lysine acetylation activates 6-phosphogluconate dehydrogenase to promote tumor growth.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dihydrolipoyllysine-residue acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dihydrolipoyllysine-residue acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables dihydrolipoyllysine-residue acetyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables dihydrolipoyllysine-residue acetyltransferase activity TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to pyruvate dehydrogenase (NAD+) activity IC
Inferred by Curator
more info
 PubMed 
contributes_to pyruvate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in acetyl-CoA biosynthetic process from pyruvate IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in acetyl-CoA biosynthetic process from pyruvate ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
  
involved_in glucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tricarboxylic acid cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
part_of pyruvate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of pyruvate dehydrogenase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of pyruvate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of pyruvate dehydrogenase complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
Names
70 kDa mitochondrial autoantigen of primary biliary cirrhosis
E2 component of pyruvate dehydrogenase complex
M2 antigen complex 70 kDa subunit
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
pyruvate dehydrogenase complex component E2
NP_001358960.1
NP_001358961.1
NP_001358962.1
NP_001358963.1
NP_001358964.1
NP_001358965.1
NP_001358966.1
NP_001358967.1
NP_001358968.1
NP_001358969.1
NP_001358970.1
NP_001358971.1
NP_001922.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013342.1 RefSeqGene

    Range
    5595..44591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001372031.1 → NP_001358960.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AP000907
    UniProtKB/TrEMBL
    A0A7P0Z4G4
    Conserved Domains (2) summary
    PRK11892
    Location:96 → 175
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:221 → 653
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  2. NM_001372032.1 → NP_001358961.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91590.1
    UniProtKB/TrEMBL
    A0A7P0TBE2, A0A7P0Z4G4
    Related
    ENSP00000506560.1, ENST00000681316.1
    Conserved Domains (2) summary
    PRK11892
    Location:96 → 175
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:221 → 645
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  3. NM_001372033.1 → NP_001358962.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91588.1
    UniProtKB/TrEMBL
    A0A7P0TAX2, A0A7P0Z4G4
    Related
    ENSP00000506355.1, ENST00000681328.1
    Conserved Domains (2) summary
    PRK11892
    Location:96 → 175
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:221 → 640
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  4. NM_001372034.1 → NP_001358963.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91593.1
    UniProtKB/TrEMBL
    A0A7P0T997, A0A7P0Z4G4
    Related
    ENSP00000505567.1, ENST00000679878.1
    Conserved Domains (2) summary
    cd06849
    Location:95 → 154
    lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...
    TIGR01349
    Location:210 → 636
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  5. NM_001372035.1 → NP_001358964.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91589.1
    UniProtKB/TrEMBL
    A0A7P0TAG1, A0A7P0Z4G4
    Related
    ENSP00000506167.1, ENST00000681339.1
    Conserved Domains (2) summary
    PRK11892
    Location:96 → 175
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:221 → 611
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  6. NM_001372036.1 → NP_001358965.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP000907
    UniProtKB/TrEMBL
    B4DJX1
    Conserved Domains (2) summary
    PRK11892
    Location:80 → 133
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:179 → 605
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  7. NM_001372037.1 → NP_001358966.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP000907
    UniProtKB/TrEMBL
    B4DJX1
    Related
    ENSP00000505915.1, ENST00000680411.1
    Conserved Domains (2) summary
    PRK11892
    Location:40 → 119
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:165 → 591
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  8. NM_001372038.1 → NP_001358967.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91592.1
    UniProtKB/TrEMBL
    A0A7P0TBK2
    Related
    ENSP00000506707.1, ENST00000680331.1
    Conserved Domains (1) summary
    TIGR01349
    Location:127 → 554
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  9. NM_001372039.1 → NP_001358968.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91591.1
    UniProtKB/TrEMBL
    A0A7P0Z4G4, E9PEJ4
    Related
    ENSP00000376771.1, ENST00000393051.5
    Conserved Domains (1) summary
    TIGR01349
    Location:93 → 542
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  10. NM_001372040.1 → NP_001358969.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS91587.1
    UniProtKB/TrEMBL
    B4DLQ2, H0YDD4
    Related
    ENSP00000433432.2, ENST00000531306.2
    Conserved Domains (1) summary
    TIGR01349
    Location:93 → 520
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  11. NM_001372041.1 → NP_001358970.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Conserved Domains (1) summary
    TIGR01349
    Location:93 → 506
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  12. NM_001372042.1 → NP_001358971.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 13

    Status: REVIEWED

    Source sequence(s)
    AP000907
    UniProtKB/TrEMBL
    A0A7P0TA47
    Related
    ENSP00000506007.1, ENST00000679614.1
    Conserved Domains (1) summary
    TIGR01349
    Location:67 → 493
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

  13. NM_001931.5 → NP_001922.2  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001922.2

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Consensus CDS
    CCDS8354.1
    UniProtKB/Swiss-Prot
    P10515, Q16783, Q53EP3
    UniProtKB/TrEMBL
    A0A7P0Z4G4, Q86YI5
    Related
    ENSP00000280346.7, ENST00000280346.11
    Conserved Domains (2) summary
    PRK11892
    Location:96 → 175
    PRK11892; pyruvate dehydrogenase subunit beta; Provisional
    TIGR01349
    Location:221 → 647
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

RNA

  1. NR_164072.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Related
    ENST00000679368.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    112025408..112064404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    112035650..112074647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10515.3 GenPept UniProtKB/Swiss-Prot:P10515

Gene LinkOut

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