Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DLD (dihydrolipoamide dehydrogenase)

Identity

Alias (NCBI)DLDD
DLDH
E3
GCSL
LAD
OGDC-E3
PHE3
HGNC (Hugo) DLD
HGNC Alias symbDLDH
E3
OGDC-E3
HGNC Alias nameE3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
HGNC Previous nameLAD
 GCSL
HGNC Previous namedihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
LocusID (NCBI) 1738
Atlas_Id 47163
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 107891107 and ends at 107921198 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DLD (7q31.1) / SCEL (13q22.3)DLD (7q31.1) / SURF4 (9q34.2)IKBKB (8p11.21) / DLD (7q31.1)
DLD 7q31.1 / SCEL 13q22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)DLD   2898
Cards
Entrez_Gene (NCBI)DLD    dihydrolipoamide dehydrogenase
AliasesDLDD; DLDH; E3; GCSL; 
LAD; OGDC-E3; PHE3
GeneCards (Weizmann)DLD
Ensembl hg19 (Hinxton)ENSG00000091140 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091140 [Gene_View]  ENSG00000091140 [Sequence]  chr7:107891107-107921198 [Contig_View]  DLD [Vega]
ICGC DataPortalENSG00000091140
TCGA cBioPortalDLD
AceView (NCBI)DLD
Genatlas (Paris)DLD
SOURCE (Princeton)DLD
Genetics Home Reference (NIH)DLD
Genomic and cartography
GoldenPath hg38 (UCSC)DLD  -     chr7:107891107-107921198 +  7q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DLD  -     7q31.1   [Description]    (hg19-Feb_2009)
GoldenPathDLD - 7q31.1 [CytoView hg19]  DLD - 7q31.1 [CytoView hg38]
ImmunoBaseENSG00000091140
Genome Data Viewer NCBIDLD [Mapview hg19]  
OMIM238331   246900   
Gene and transcription
Genbank (Entrez)AB209703 AK225289 AK225301 AK294146 AK295080
RefSeq transcript (Entrez)NM_000108 NM_001289750 NM_001289751 NM_001289752
Consensus coding sequences : CCDS (NCBI)DLD
Gene ExpressionDLD [ NCBI-GEO ]   DLD [ EBI - ARRAY_EXPRESS ]   DLD [ SEEK ]   DLD [ MEM ]
Gene Expression Viewer (FireBrowse)DLD [ Firebrowse - Broad ]
GenevisibleExpression of DLD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1738
GTEX Portal (Tissue expression)DLD
Human Protein AtlasENSG00000091140-DLD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09622   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09622  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09622
PhosPhoSitePlusP09622
Domaine pattern : Prosite (Expaxy)PYRIDINE_REDOX_1 (PS00076)   
Domains : Interpro (EBI)FAD/NAD-bd_sf    FAD/NAD-binding_dom    FAD/NAD-linked_Rdtase_dimer_sf    Lipoamide_DH    Pyr_nuc-diS_OxRdtase    Pyr_nucl-diS_OxRdtase_dimer    Pyr_OxRdtase_I_AS   
Domain families : Pfam (Sanger)Pyr_redox_2 (PF07992)    Pyr_redox_dim (PF02852)   
Domain families : Pfam (NCBI)pfam07992    pfam02852   
Conserved Domain (NCBI)DLD
PDB (RSDB)1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
PDB Europe1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
PDB (PDBSum)1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
PDB (IMB)1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
Structural Biology KnowledgeBase1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
SCOP (Structural Classification of Proteins)1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
CATH (Classification of proteins structures)1ZMC    1ZMD    1ZY8    2F5Z    3RNM    5J5Z    5NHG    6HG8    6I4P    6I4Q    6I4R    6I4S    6I4T    6I4U    6I4Z   
SuperfamilyP09622
AlphaFold pdb e-kbP09622   
Human Protein Atlas [tissue]ENSG00000091140-DLD [tissue]
HPRD02006
Protein Interaction databases
DIP (DOE-UCLA)P09622
IntAct (EBI)P09622
BioGRIDDLD
STRING (EMBL)DLD
ZODIACDLD
Ontologies - Pathways
QuickGOP09622
Ontology : AmiGOdihydrolipoyl dehydrogenase activity  dihydrolipoyl dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  pyruvate metabolic process  tricarboxylic acid cycle  2-oxoglutarate metabolic process  mitochondrial electron transport, NADH to ubiquinone  proteolysis  glycine catabolic process  lysine catabolic process  gastrulation  aging  branched-chain amino acid catabolic process  lipoate metabolic process  motile cilium  pyruvate dehydrogenase (NAD+) activity  regulation of membrane potential  acrosomal matrix  lipoamide binding  oxoglutarate dehydrogenase complex  oxoglutarate dehydrogenase complex  pyruvate dehydrogenase complex  cell redox homeostasis  sperm capacitation  flavin adenine dinucleotide binding  dihydrolipoamide metabolic process  NAD binding  mitochondrial acetyl-CoA biosynthetic process from pyruvate  histone succinylation  
Ontology : EGO-EBIdihydrolipoyl dehydrogenase activity  dihydrolipoyl dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  pyruvate metabolic process  tricarboxylic acid cycle  2-oxoglutarate metabolic process  mitochondrial electron transport, NADH to ubiquinone  proteolysis  glycine catabolic process  lysine catabolic process  gastrulation  aging  branched-chain amino acid catabolic process  lipoate metabolic process  motile cilium  pyruvate dehydrogenase (NAD+) activity  regulation of membrane potential  acrosomal matrix  lipoamide binding  oxoglutarate dehydrogenase complex  oxoglutarate dehydrogenase complex  pyruvate dehydrogenase complex  cell redox homeostasis  sperm capacitation  flavin adenine dinucleotide binding  dihydrolipoamide metabolic process  NAD binding  mitochondrial acetyl-CoA biosynthetic process from pyruvate  histone succinylation  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Glycine, serine and threonine metabolism    Valine, leucine and isoleucine degradation    Pyruvate metabolism   
NDEx NetworkDLD
Atlas of Cancer Signalling NetworkDLD
Wikipedia pathwaysDLD
Orthology - Evolution
OrthoDB1738
GeneTree (enSembl)ENSG00000091140
Phylogenetic Trees/Animal Genes : TreeFamDLD
Homologs : HomoloGeneDLD
Homology/Alignments : Family Browser (UCSC)DLD
Gene fusions - Rearrangements
Fusion : MitelmanDLD/SCEL [7q31.1/13q22.3]  
Fusion : QuiverDLD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDLD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DLD
dbVarDLD
ClinVarDLD
MonarchDLD
1000_GenomesDLD 
Exome Variant ServerDLD
GNOMAD BrowserENSG00000091140
Varsome BrowserDLD
ACMGDLD variants
VarityP09622
Genomic Variants (DGV)DLD [DGVbeta]
DECIPHERDLD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDLD 
Mutations
ICGC Data PortalDLD 
TCGA Data PortalDLD 
Broad Tumor PortalDLD
OASIS PortalDLD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDLD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDLD
Mutations and Diseases : HGMDDLD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDLD
DgiDB (Drug Gene Interaction Database)DLD
DoCM (Curated mutations)DLD
CIViC (Clinical Interpretations of Variants in Cancer)DLD
Cancer3DDLD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM238331    246900   
Orphanet5520   
DisGeNETDLD
MedgenDLD
Genetic Testing Registry DLD
NextProtP09622 [Medical]
GENETestsDLD
Target ValidationDLD
Huge Navigator DLD [HugePedia]
ClinGenDLD
Clinical trials, drugs, therapy
MyCancerGenomeDLD
Protein Interactions : CTDDLD
Pharm GKB GenePA27352
PharosP09622
Clinical trialDLD
Miscellaneous
canSAR (ICR)DLD
HarmonizomeDLD
DataMed IndexDLD
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDLD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:06:49 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.