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

Gene ID: 1737, updated on 7-Dec-2014
Official Symbol
DLATprovided by HGNC
Official Full Name
dihydrolipoamide S-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:2896
See related
Ensembl:ENSG00000150768; HPRD:10578; MIM:608770; Vega:OTTHUMG00000133751
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
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]
See DLAT in Epigenomics, MapViewer
Location:
11q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (112024814..112064278)
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 chromosome 11 open reading frame 52 Neighboring gene DIX domain containing 1 Neighboring gene peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 Neighboring gene PIH1 domain containing 2 Neighboring gene chromosome 11 open reading frame 57 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B (yeast) Neighboring gene succinate dehydrogenase complex, subunit D, integral membrane protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dihydrolipoyllysine-residue acetyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular metabolic process TAS
Traceable Author Statement
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process TAS
Traceable Author Statement
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
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 NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
PBC
M2 antigen complex 70 kDa subunit
pyruvate dehydrogenase complex component E2
E2 component of pyruvate dehydrogenase complex
70 kDa mitochondrial autoantigen of primary biliary cirrhosis
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial
NP_001922.2

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 

    Range
    5001..44456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001931.4NP_001922.2  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor

    See proteins identical to NP_001922.2

    Status: REVIEWED

    Source sequence(s)
    AK057299, AW188637, BC039084
    Consensus CDS
    CCDS8354.1
    UniProtKB/Swiss-Prot
    P10515
    UniProtKB/TrEMBL
    Q86YI5
    Related
    ENSP00000280346, OTTHUMP00000165200, ENST00000280346, OTTHUMT00000258167
    Conserved Domains (4) summary
    cd06849
    Location:219293
    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:221647
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    pfam00198
    Location:436647
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:353391
    E3_binding; e3 binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    112024814..112064278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    111778793..111818192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    107819561..107858905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)