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DLD (dihydrolipoamide dehydrogenase)

Identity

Other namesDLDD
DLDH
E3
GCSL
LAD
PHE3
HGNC (Hugo) DLD
LocusID (NCBI) 1738
Location 7q31.1
Location_base_pair Starts at 107531552 and ends at 107561643 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)DLD
Ensembl (Hinxton)ENSG00000091140 [Gene_View]  chr7:107531552-107561643 [Contig_View]  DLD [Vega]
ICGC DataPortalENSG00000091140
cBioPortalDLD
AceView (NCBI)DLD
Genatlas (Paris)DLD
WikiGenes1738
SOURCE (Princeton)NM_000108 NM_001289750 NM_001289751 NM_001289752
Genomic and cartography
GoldenPath (UCSC)DLD  -  7q31.1   chr7:107531552-107561643 +  7q31.1   [Description]    (hg19-Feb_2009)
EnsemblDLD - 7q31.1 [CytoView]
Mapping of homologs : NCBIDLD [Mapview]
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)AC_000139 NC_000007 NC_018918 NG_008045 NT_007933 NW_001839071 NW_004929332
Consensus coding sequences : CCDS (NCBI)DLD
Cluster EST : UnigeneHs.131711 [ NCBI ]
CGAP (NCI)Hs.131711
Alternative Splicing : Fast-db (Paris)GSHG0027645
Alternative Splicing GalleryENSG00000091140
Gene ExpressionDLD [ NCBI-GEO ]     DLD [ SEEK ]   DLD [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09622 (Uniprot)
NextProtP09622  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)PYRIDINE_REDOX_1 (PS00076)   
Domains : Interpro (EBI)FAD/NAD-linked_Rdtase_dimer [organisation]   FAD_pyr_nucl-diS_OxRdtase [organisation]   Lipoamide_DH [organisation]   Pyr_nucl-diS_OxRdtase_dimer [organisation]   Pyr_nucl-diS_OxRdtase_FAD/NAD [organisation]   Pyr_OxRdtase_I_AS [organisation]   Pyr_OxRdtase_NAD-bd_dom [organisation]  
Related proteins : CluSTrP09622
Domain families : Pfam (Sanger)Pyr_redox (PF00070)    Pyr_redox_2 (PF07992)    Pyr_redox_dim (PF02852)   
Domain families : Pfam (NCBI)pfam00070    pfam07992    pfam02852   
DMDM Disease mutations1738
Blocks (Seattle)P09622
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   
Human Protein AtlasENSG00000091140 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP09622
HPRD02006
IPIIPI00015911   IPI01011882   IPI01011421   IPI00926110   IPI00926319   IPI00926810   IPI00909143   IPI00927039   
Protein Interaction databases
DIP (DOE-UCLA)P09622
IntAct (EBI)P09622
FunCoupENSG00000091140
BioGRIDDLD
InParanoidP09622
Interologous Interaction database P09622
IntegromeDBDLD
STRING (EMBL)DLD
Ontologies - Pathways
Ontology : AmiGOdihydrolipoyl dehydrogenase activity  nucleus  nucleolus  mitochondrion  mitochondrial matrix  cilium  pyruvate metabolic process  tricarboxylic acid cycle  mitochondrial electron transport, NADH to ubiquinone  proteolysis  lysine catabolic process  gastrulation  branched-chain amino acid catabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular nitrogen compound metabolic process  regulation of membrane potential  acrosomal matrix  cellular metabolic process  small molecule metabolic process  cell redox homeostasis  sperm capacitation  flavin adenine dinucleotide binding  
Ontology : EGO-EBIdihydrolipoyl dehydrogenase activity  nucleus  nucleolus  mitochondrion  mitochondrial matrix  cilium  pyruvate metabolic process  tricarboxylic acid cycle  mitochondrial electron transport, NADH to ubiquinone  proteolysis  lysine catabolic process  gastrulation  branched-chain amino acid catabolic process  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular nitrogen compound metabolic process  regulation of membrane potential  acrosomal matrix  cellular metabolic process  small molecule metabolic process  cell redox homeostasis  sperm capacitation  flavin adenine dinucleotide binding  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Glycine, serine and threonine metabolism    Valine, leucine and isoleucine degradation    Pyruvate metabolism   
Protein Interaction DatabaseDLD
Wikipedia pathwaysDLD
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DLD
snp3D : Map Gene to Disease1738
SNP (GeneSNP Utah)DLD
SNP : HGBaseDLD
Genetic variants : HAPMAPDLD
Exome VariantDLD
1000_GenomesDLD 
ICGC programENSG00000091140 
Somatic Mutations in Cancer : COSMICDLD 
CONAN: Copy Number AnalysisDLD 
Mutations and Diseases : HGMDDLD
Mutations and Diseases : intOGenDLD
Genomic VariantsDLD  DLD [DGVbeta]
dbVarDLD
ClinVarDLD
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM238331    246900   
MedgenDLD
GENETestsDLD
Disease Genetic AssociationDLD
Huge Navigator DLD [HugePedia]  DLD [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneDLD
Homology/Alignments : Family Browser (UCSC)DLD
Phylogenetic Trees/Animal Genes : TreeFamDLD
Chemical/Protein Interactions : CTD1738
Chemical/Pharm GKB GenePA27352
Clinical trialDLD
Cancer Resource (Charite)ENSG00000091140
Other databases
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
CoreMineDLD
iHOPDLD
OncoSearchDLD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:44:35 CEST 2014

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