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Dlat dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) [ Mus musculus (house mouse) ]

Gene ID: 235339, updated on 8-Jan-2023

Summary

Official Symbol
Dlatprovided by MGI
Official Full Name
dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)provided by MGI
Primary source
MGI:MGI:2385311
See related
Ensembl:ENSMUSG00000000168 AllianceGenome:MGI:2385311
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
DLTA; PDC-E2; 6332404G05Rik
Summary
Predicted to enable dihydrolipoyllysine-residue acetyltransferase activity and identical protein binding activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Predicted to be involved in acetyl-CoA biosynthetic process from pyruvate. Predicted to act upstream of or within mitochondrial acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human DLAT (dihydrolipoamide S-acetyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 33.1), mammary gland adult (RPKM 17.1) and 27 other tissues See more
Orthologs
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Genomic context

See Dlat in Genome Data Viewer
Location:
9; 9 A5.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (50545933..50571080, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (50634633..50659780, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene translocase of inner mitochondrial membrane 8B Neighboring gene NKAP domain containing 1 Neighboring gene PIH1 domain containing 2 Neighboring gene DIX domain containing 1 Neighboring gene predicted gene, 39337 Neighboring gene predicted gene, 51674 Neighboring gene RIKEN cDNA 2310030G06 gene Neighboring gene crystallin, alpha B

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables dihydrolipoyllysine-residue acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dihydrolipoyllysine-residue acetyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables dihydrolipoyllysine-residue acetyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to pyruvate dehydrogenase (NAD+) activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
Names
PDCE2
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
pyruvate dehydrogenase complex component E2
NP_663589.3

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.

mRNA and Protein(s)

  1. NM_145614.4NP_663589.3  dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

    See identical proteins and their annotated locations for NP_663589.3

    Status: VALIDATED

    Source sequence(s)
    AK032124, AK043771, AK166090, CD774289, CK331241
    Consensus CDS
    CCDS23168.1
    UniProtKB/Swiss-Prot
    Q8BMF4, Q91ZB1
    Related
    ENSMUSP00000034567.4, ENSMUST00000034567.4
    Conserved Domains (4) summary
    cd06849
    Location:218292
    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:220642
    PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form
    pfam00198
    Location:431642
    2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)
    pfam02817
    Location:351384
    E3_binding; e3 binding domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    50545933..50571080 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)