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Dlat Gene Detail
Summary
  • Symbol
    Dlat
  • Name
    dihydrolipoamide S-acetyltransferase
  • Synonyms
    6332404G05Rik, PDC-E2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385311
    NCBI Gene: 235339
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:50545933-50571080 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 27.75 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    716 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385311
 protein coding gene Chr9:50545933-50571080 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034785
 protein coding gene Chr9:49529605-49558188 (-)
A/J MGP_AJ_G0034766
 protein coding gene Chr9:48018812-48044762 (-)
AKR/J MGP_AKRJ_G0034694
 protein coding gene Chr9:49028699-49053839 (-)
BALB/cJ MGP_BALBcJ_G0034758
 protein coding gene Chr9:47743587-47768993 (-)
C3H/HeJ MGP_C3HHeJ_G0034468
 protein coding gene Chr9:49510832-49538201 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035278
 protein coding gene Chr9:50911577-50940169 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032191
 protein coding gene Chr9:47482734-47508338 (-)
CAST/EiJ MGP_CASTEiJ_G0033790
 protein coding gene Chr9:49463486-49490874 (-)
CBA/J MGP_CBAJ_G0034440
 protein coding gene Chr9:52721108-52749153 (-)
DBA/2J MGP_DBA2J_G0034599
 protein coding gene Chr9:47878711-47903862 (-)
FVB/NJ MGP_FVBNJ_G0034540
 protein coding gene Chr9:47096058-47121068 (-)
LP/J MGP_LPJ_G0034680
 protein coding gene Chr9:49888859-49915245 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034583
 protein coding gene Chr9:54319157-54344383 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035299
 protein coding gene Chr9:49001626-49027653 (-)
PWK/PhJ MGP_PWKPhJ_G0033495
 protein coding gene Chr9:47855619-47881079 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033330
 protein coding gene Chr9:49313236-49339837 (-)
WSB/EiJ MGP_WSBEiJ_G0033903
 protein coding gene Chr9:49010712-49038673 (-)



Homology
more
  • Human Ortholog
    DLAT, dihydrolipoamide S-acetyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DLAT, dihydrolipoamide S-acetyltransferase
  • Synonyms
    DLTA, E2, PBC, PDC-E2, PDCE2
  • Links
    NCBI Gene ID: 1737
    neXtProt AC: NX_P10515
    UniProt: P10515

  • Chr Location
    11q23.1; chr11:112025033-112064404 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DLAT associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    31
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    933
  • Tissues
    113
  • cDNA Data
    17
  • Literature Summary
    6
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 235339 NCBI Gene Model | MGI Sequence Detail 25148 C57BL/6J ±  kb
transcript NM_145614 RefSeq | MGI Sequence Detail 4051 C57BL/6  
polypeptide Q8BMF4 UniProt | EBI | MGI Sequence Detail 642 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000006504 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    (term hierarchy)
  • EC
    2.3.1.12
  • InterPro Domains
    IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
    IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
    IPR000089 Biotin/lipoyl attachment
    IPR023213 Chloramphenicol acetyltransferase-like domain superfamily
    IPR045257 Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component
    IPR006257 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex
    IPR036625 E3-binding domain superfamily
    IPR004167 Peripheral subunit-binding domain
    IPR011053 Single hybrid motif
  • GlyGen
    Q8BMF4 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 19
    cDNA 17
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
less
MGI:2444090
References
more
  • Summaries
    All 50
    Developmental Gene Expression 6
    Gene Ontology 14
    Phenotypes 8
  • Earliest
    J:45074 Johnson MT, et al., Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14512-7
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
10/22/2024
MGI 6.24 		The Jackson Laboratory