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Dld
Gene Detail
 Symbol
Name
ID
Dld
dihydrolipoamide dehydrogenase
MGI:107450
Synonyms branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase
Feature Type protein coding gene
Genetic Map
Chromosome 12
13.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr12:31331564-31351437 bp, - strand
From Ensembl annotation of GRCm38

  19874 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:84  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: dihydrolipoamide dehydrogenase
Gene Tree: Dld

Human
homologs
Human Homolog DLD, dihydrolipoamide dehydrogenase
NCBI Gene ID 1738
neXtProt AC  NX_P09622
Human Synonyms  DLDD, DLDH, E3, GCSL, LAD, PHE3
Human Chr (Location)  7q31-q32; chr7:107891141-107921198 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human DLD
Alleles
and
phenotypes
All alleles(4) : Targeted(3) Gene trapped(1)
 
Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.
 
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process 2-oxoglutarate metabolic process, acetyl-CoA biosynthetic process from pyruvate, ...
Component acrosomal matrix, cilium, ...
Function dihydrolipoyl dehydrogenase activity, flavin adenine dinucleotide binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (248)    Tissues (133)    Images (33)
Theiler Stages: 22, 23, 26, 28
Assay TypeResults
RNA in situ 248
cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(24) Genomic(3) cDNA(19) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000020664 (Evidence)
Entrez Gene13382 (Evidence)
DFCITC1573513
DoTSDT.101739535, DT.536316
NIA Mouse Gene IndexU033877
EC1.8.1.4
Consensus CDS ProjectCCDS36428.1
International Mouse Knockout Project StatusDld
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020664 Ensembl Gene Model | MGI Sequence Detail 19874 C57BL/6J ±  kb
transcript ENSMUST00000110857 Ensembl | MGI Sequence Detail 2241 Not Applicable 
polypeptide ENSMUSP00000106481 Ensembl | MGI Sequence Detail 509 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(2)
Polymorphisms PCR(1) : SNPs within 2kb(102 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006258 Dihydrolipoamide dehydrogenase
InterPro IPR013027 FAD-dependent pyridine nucleotide-disulphide oxidoreductase
InterPro IPR016156 FAD/NAD-linked reductase, dimerisation
InterPro IPR012999 Pyridine nucleotide-disulphide oxidoreductase, class I, active site
InterPro IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation
InterPro IPR023753 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain
InterPro IPR001327 Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain
Protein Ontology PR:000006506 dihydrolipoyl dehydrogenase, mitochondrial
References (Earliest) J:34474 Lyu MS, et al., Genetic mapping of the human and mouse phospholipase C genes. Mamm Genome. 1996 Jul;7(7):501-4
(Latest) J:199956 Kiss G, et al., The negative impact of alpha-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. FASEB J. 2013 Jun;27(6):2392-406
All references(45)
Other
accession IDs
MGD-MRK-35921, MGI:2144786, MGI:2144881

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory