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DLD (dihydrolipoamide dehydrogenase)

Identity

Other namesDLDD
DLDH
E3
GCSL
LAD
PHE3
HGNC (Hugo) DLD
LocusID (NCBI) 1738
Atlas_Id 47163
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 107531552 and ends at 107561643 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  1738  dihydrolipoamide dehydrogenase
AliasesDLDD; DLDH; E3; GCSL; 
LAD; PHE3
GeneCards (Weizmann)DLD
Ensembl hg19 (Hinxton)ENSG00000091140 [Gene_View]  chr7:107531552-107561643 [Contig_View]  DLD [Vega]
Ensembl hg38 (Hinxton)ENSG00000091140 [Gene_View]  chr7:107531552-107561643 [Contig_View]  DLD [Vega]
ICGC DataPortalENSG00000091140
TCGA cBioPortalDLD
AceView (NCBI)DLD
Genatlas (Paris)DLD
WikiGenes1738
SOURCE (Princeton)DLD
Genomic and cartography
GoldenPath hg19 (UCSC)DLD  -     chr7:107531552-107561643 +  7q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DLD  -     7q31.1   [Description]    (hg38-Dec_2013)
EnsemblDLD - 7q31.1 [CytoView hg19]  DLD - 7q31.1 [CytoView hg38]
Mapping of homologs : NCBIDLD [Mapview hg19]  DLD [Mapview hg38]
OMIM238331   246900   
Gene and transcription
Genbank (Entrez)AB209703 AK225289 AK225301 AK294146 AK295080
RefSeq transcript (Entrez)NM_000108 NM_001289750 NM_001289751 NM_001289752
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_008045 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)DLD
Cluster EST : UnigeneHs.131711 [ NCBI ]
CGAP (NCI)Hs.131711
Alternative Splicing GalleryENSG00000091140
Gene ExpressionDLD [ NCBI-GEO ]   DLD [ EBI - ARRAY_EXPRESS ]   DLD [ SEEK ]   DLD [ MEM ]
Gene Expression Viewer (FireBrowse)DLD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1738
GTEX Portal (Tissue expression)DLD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09622 (Uniprot)
NextProtP09622  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09622
Splice isoforms : SwissVarP09622 (Swissvar)
Catalytic activity : Enzyme1.8.1.4 [ Enzyme-Expasy ]   1.8.1.41.8.1.4 [ IntEnz-EBI ]   1.8.1.4 [ BRENDA ]   1.8.1.4 [ KEGG ]   
PhosPhoSitePlusP09622
Domaine pattern : Prosite (Expaxy)PYRIDINE_REDOX_1 (PS00076)   
Domains : Interpro (EBI)FAD/NAD-binding_dom    FAD/NAD-linked_Rdtase_dimer    Lipoamide_DH    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   
DMDM Disease mutations1738
Blocks (Seattle)DLD
PDB (SRS)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
PDB (PDBSum)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
PDB (IMB)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
PDB (RSDB)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
Structural Biology KnowledgeBase1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
SCOP (Structural Classification of Proteins)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
CATH (Classification of proteins structures)1ZMC    1ZMD    1ZY8    2F5Z    3RNM   
SuperfamilyP09622
Human Protein AtlasENSG00000091140
Peptide AtlasP09622
HPRD02006
IPIIPI00015911   IPI01011882   IPI01011421   IPI00926110   IPI00926319   IPI00926810   IPI00909143   IPI00927039   
Protein Interaction databases
DIP (DOE-UCLA)P09622
IntAct (EBI)P09622
FunCoupENSG00000091140
BioGRIDDLD
STRING (EMBL)DLD
ZODIACDLD
Ontologies - Pathways
QuickGOP09622
Ontology : AmiGOdihydrolipoyl dehydrogenase activity  nucleoplasm  mitochondrion  mitochondrial matrix  cilium  pyruvate metabolic process  tricarboxylic acid cycle  2-oxoglutarate metabolic process  mitochondrial electron transport, NADH to ubiquinone  proteolysis  lysine catabolic process  gastrulation  aging  branched-chain amino acid catabolic process  lipoate metabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  pyruvate dehydrogenase (NAD+) activity  regulation of membrane potential  acrosomal matrix  myelin sheath  lipoamide binding  oxoglutarate dehydrogenase complex  pyruvate dehydrogenase complex  cell redox homeostasis  glyoxylate metabolic process  sperm capacitation  flavin adenine dinucleotide binding  dihydrolipoamide metabolic process  NAD binding  mitochondrial acetyl-CoA biosynthetic process from pyruvate  
Ontology : EGO-EBIdihydrolipoyl dehydrogenase activity  nucleoplasm  mitochondrion  mitochondrial matrix  cilium  pyruvate metabolic process  tricarboxylic acid cycle  2-oxoglutarate metabolic process  mitochondrial electron transport, NADH to ubiquinone  proteolysis  lysine catabolic process  gastrulation  aging  branched-chain amino acid catabolic process  lipoate metabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  pyruvate dehydrogenase (NAD+) activity  regulation of membrane potential  acrosomal matrix  myelin sheath  lipoamide binding  oxoglutarate dehydrogenase complex  pyruvate dehydrogenase complex  cell redox homeostasis  glyoxylate metabolic process  sperm capacitation  flavin adenine dinucleotide binding  dihydrolipoamide metabolic process  NAD binding  mitochondrial acetyl-CoA biosynthetic process from pyruvate  
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: TCGADLD 7q31.1 SCEL 13q22.3 PRAD
Polymorphisms : SNP, variants
NCBI Variation ViewerDLD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DLD
dbVarDLD
ClinVarDLD
1000_GenomesDLD 
Exome Variant ServerDLD
ExAC (Exome Aggregation Consortium)DLD (select the gene name)
Genetic variants : HAPMAP1738
Genomic Variants (DGV)DLD [DGVbeta]
Mutations
ICGC Data PortalDLD 
TCGA Data PortalDLD 
Broad Tumor PortalDLD
OASIS PortalDLD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDLD 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DLD
DgiDB (Drug Gene Interaction Database)DLD
DoCM (Curated mutations)DLD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DLD (select a term)
intoGenDLD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:107531552-107561643  ENSG00000091140
CONAN: Copy Number AnalysisDLD 
Mutations and Diseases : HGMDDLD
OMIM238331    246900   
MedgenDLD
Genetic Testing Registry DLD
NextProtP09622 [Medical]
TSGene1738
GENETestsDLD
Huge Navigator DLD [HugePedia]
snp3D : Map Gene to Disease1738
BioCentury BCIQDLD
ClinGenDLD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1738
Chemical/Pharm GKB GenePA27352
Clinical trialDLD
Miscellaneous
canSAR (ICR)DLD (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDLD
EVEXDLD
GoPubMedDLD
iHOPDLD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:46:07 CEST 2016

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