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

Gene ID: 1737, updated on 4-May-2020

Summary

Official Symbol
DLATprovided by HGNC
Official Full Name
dihydrolipoamide S-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2896
See related
Ensembl:ENSG00000150768 MIM:608770
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

Genomic context

See DLAT in Genome Data Viewer
Location:
11q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112025408..112064404)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111895538..111935002)

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 chromosome 11 open reading frame 52 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene DIX domain containing 1 Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene PIH1 domain containing 2 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
acetyl-CoA biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetyl-CoA biosynthetic process from pyruvate IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
sleep IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial pyruvate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial pyruvate dehydrogenase complex NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001372031.1NP_001358960.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AP000907
  2. NM_001372032.1NP_001358961.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AP000907
  3. NM_001372033.1NP_001358962.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP000907
  4. NM_001372034.1NP_001358963.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP000907
  5. NM_001372035.1NP_001358964.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP000907
  6. NM_001372036.1NP_001358965.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP000907
  7. NM_001372037.1NP_001358966.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP000907
  8. NM_001372038.1NP_001358967.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP000907
  9. NM_001372039.1NP_001358968.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Related
    ENSP00000376771.1, ENST00000393051.5
  10. NM_001372040.1NP_001358969.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP000907
    Related
    ENSP00000433432.1, ENST00000531306.1
  11. NM_001372041.1NP_001358970.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP000907
  12. NM_001372042.1NP_001358971.1  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 13

    Status: REVIEWED

    Source sequence(s)
    AP000907
  13. NM_001931.5NP_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
    UniProtKB/TrEMBL
    Q86YI5
    Related
    ENSP00000280346.6, ENST00000280346.10
    Conserved Domains (2) summary
    TIGR01349
    Location:221647
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    cl27364
    Location:96175
    Transketolase_C; Transketolase, C-terminal domain

RNA

  1. NR_164072.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP000907

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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