Dlat dihydrolipoamide S-acetyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dlatprovided by MGI
Official Full Name: dihydrolipoamide S-acetyltransferaseprovided 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: Enables acetyltransferase activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion and myelin sheath. Is active in mitochondrial matrix. 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, Oct 2024]
Expression: Ubiquitous expression in heart adult (RPKM 33.1), mammary gland adult (RPKM 17.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.3; 9 27.75 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
These data reveal a central role for Dlat in the metabolic program regulated by E4F1 in basal keratinocytes.
Title: E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis.
On the basis of our ChIP data and these previous findings, we hypothesize that PDC may modulate STAT5's ability to regulate gene expression by controlling histone or STAT5 acetylation
Title: Pyruvate dehydrogenase complex (PDC) subunits moonlight as interaction partners of phosphorylated STAT5 in adipocytes and adipose tissue.
breach of tolerance to PDC-E2 is probably the first event in the natural history of primary biliary cirrhosis in genetically susceptible hosts.
Title: Escherichia coli infection induces autoimmune cholangitis and anti-mitochondrial antibodies in non-obese diabetic (NOD).B6 (Idd10/Idd18) mice.
a novel function of pyruvate dehydrogenase complex E2 in the nucleus in up-regulating the transactivating ability of STAT5
Title: Nuclear localization of pyruvate dehydrogenase complex-E2 (PDC-E2), a mitochondrial enzyme, and its role in signal transducer and activator of transcription 5 (STAT5)-dependent gene transcription.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124795 (e-PCR)
- UniSTS:161617

DLAT (e-PCR)
- UniSTS:527313

Dlat (e-PCR), detects polymorphism
- UniSTS:527313

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	IC Inferred by Curator more info	PubMed
involved_in acetyl-CoA biosynthetic process from pyruvate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology more info
involved_in acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology 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
part_of acetyltransferase complex	TAS Traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
part_of pyruvate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of pyruvate dehydrogenase complex	ISO Inferred from Sequence Orthology more info
part_of pyruvate dehydrogenase complex	TAS 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: PDCE2; dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex); dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; pyruvate dehydrogenase complex component E2

NP_663589.3

EC 2.3.1.12

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)

NM_145614.4 → NP_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, Q8K2G8, Q8R339, Q91ZB1

Related

ENSMUSP00000034567.4, ENSMUST00000034567.4

Conserved Domains (4) summary

cd06849
Location:218 → 292

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:220 → 642

PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

pfam00198
Location:431 → 642

2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)

pfam02817
Location:351 → 384

E3_binding; e3 binding domain