DLD Gene
protein-coding GIFtS: 66
GCID: GC07P107531
|
|
dihydrolipoamide dehydrogenase(Previous names: dihydrolipoamide dehydrogenase (E3 component of pyruvate...)
(Previous symbols: LAD, GCSL)
| |
Aliases
for DLD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dihydrolipoamide Dehydrogenase1 2 3 | | Diaphorase1 | | LAD1 2 3 5 | | Dihydrolipoyl Dehydrogenase, Mitochondrial2 | | GCSL1 2 3 | | E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex,Branched Chain Keto Acid Dehydrogenase Complex2 | | PHE32 3 5 | | Glycine Cleavage System Protein L2 | | DLDH1 2 | | Lipoamide Dehydrogenase2 | | Glycine Cleavage System L Protein2 3 | | Lipoamide Reductase2 | | EC 1.8.1.43 8 | | Lipoyl Dehydrogenase2 | | Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase Complex,2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex)1 | | EC 1.8.18 | | E32 | | |
Export aliases for DLD gene to outside databasesPrevious GC identifers: GC07P106015 GC07P107078 GC07P107092 GC07P107125 GC07P107318 GC07P101894 |
Summaries
for DLD gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DLD:
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also nameddihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutaratedehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have beenidentified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. (providedby RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622Function: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoaciddehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoalacrosome reaction
Gene Wiki entry for DLD (Dihydrolipoamide dehydrogenase)
|
Genomic Views
for DLD gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DLD gene promoter:
AP-1 ATF-2 NF-AT E47 CP2 Hand1 c-Jun TGIF NF-AT1 Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for DLD
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLD |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q31-q32 Ensembl cytogenetic band: 7q31.1 HGNC cytogenetic band: 7q31-q32DLD Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P107531: view genomic region
(about GC identifiers)
Start:
|
107,531,415 bp from pter |
End:
|
107,572,175 bp from pter |
Size:
|
40,761 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 106,892,712-106,922,768 |
|
Proteins
for DLD gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622 (See
protein sequence)Recommended Name: Dihydrolipoyl dehydrogenase, mitochondrial precursor Size: 509 amino acids; 54177 Da
Cofactor: Binds 1 FAD per subunit (By similarity)
Subunit: Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomericdihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase,dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds
Subcellular location: Mitochondrion matrix
Miscellaneous: The active site is a redox-active disulfide bond
Sequence caution: Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from  and Proteopedia  for DLD:1ZMC (3D)
1ZMD (3D)
1ZY8 (3D)
2F5Z (3D)
3RNM (3D)
Secondary accessions: B2R5X0 Q14131 Q14167 Q59EV8 Q8WTS4Explore the universe of human proteins at neXtProt for DLD: NX_P09622
Post-translational modifications:
Tyrosine phosphorylated (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P09622
4/22 DME Specific Peptides for DLD (P09622) (see all 22)
DLD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000099.2
ENSEMBL proteins: ENSP00000205402 ENSP00000402593 ENSP00000390667 ENSP00000417016 ENSP00000387542 ENSP00000400633 ENSP00000409590 ENSP00000388077 ENSP00000442399 Reactome Protein details: P09622
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
DLD for ontologies About GeneDecksing
DLD Antibody Products:
Assay Products for DLD: |
Protein
Domains /
Families
for DLD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DLD for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P09622ProtoNet protein and cluster: P09622 3 Blocks protein families: IPB001100 Pyridine nucleotide-disulphide oxidoreductase IPB001327 Pyridine nucleotide-disulphide oxidoreductase IPB013027 FAD-dependent pyridine nucleotide reductase signature
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622Similarity: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family |
Function
for DLD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622Function: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoaciddehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoalacrosome reactionCatalytic activity: Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH Genatlas biochemistry entry for DLD:dihydrolipoyl dehydrogenase (E3 component of pyruvate,2-oxo-ketoglutarate and branched chain keto acid dehydrogenasecomplexes),inner mitochondrial membrane
Enzyme Numbers (IUBMB): EC 1.8.1.41 2 EC 1.8.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLD (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLD
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DLD (NM_000108) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DLD | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLD |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004148 | dihydrolipoyl dehydrogenase activity |
IEA | -- | | GO:0043544 | lipoamide binding |
-- | -- | | GO:0050660 | flavin adenine dinucleotide binding |
IEA | -- | | GO:0051287 | NAD binding |
-- | -- |
DLD for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Dldtm1Ptl for DLD
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dld):
DLD for phenotypes About GeneDecksing
|
Pathways & Interactions
for DLD gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Branched-chain amino acid catabolism | | | 2 | TCA Cycle | | | 3 | Pyruvate metabolism | | | 4 | Lysine catabolism | | | 5 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/12  BioSystems Pathways for DLD (see all 12)
5/9 
Reactome Pathways for DLD (see all 9)
5/6 
Kegg Pathways (Kegg details for DLD) (see all 6):
DLD for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DLD
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/362 Interacting proteins for DLD (P096222, 3 ENSP000002054024) via UniProtKB, MINT, STRING, and/or I2D (see all 362)About this table
Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006086 | acetyl-CoA biosynthetic process from pyruvate |
-- | -- | | GO:0006090 | pyruvate metabolic process |
TAS | -- | | GO:0006099 | tricarboxylic acid cycle |
TAS | -- | | GO:0006103 | 2-oxoglutarate metabolic process |
-- | -- | | GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
IEA | -- |
DLD for ontologies About GeneDecksing
|
Drugs & Compounds
for DLD gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DLD for compounds About GeneDecksing
 Browse Tocris compounds for DLD
10/16 HMDB Compounds for DLD (see all 16) About this table
3 DrugBank Compounds for DLD About this table
10/20 Novoseek chemical compound relationships for DLD gene (see all 20) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dihydrolipoamide |
98.6 |
193 |
14645106 (6), 8894701 (6), 1541297 (5), 15888450 (5) (see all 80) |
| lipoamide |
90.4 |
12 |
9934985 (1), 10806385 (1), 11368334 (1), 18362926 (1) (see all 11) |
| pyruvate |
82.1 |
63 |
18362926 (2), 15712224 (2), 16442803 (2), 20385101 (2) (see all 27) |
| alpha-ketoglutarate |
78 |
24 |
8619544 (2), 8731379 (2), 12464489 (1), 16045627 (1) (see all 10) |
| 2-oxo acid |
76 |
6 |
10806385 (1), 1959888 (1), 9278141 (1), 7674838 (1) |
| alpha lipoic acid |
71.1 |
10 |
7669066 (2), 11368334 (1), 19393031 (1), 10218658 (1) |
| nad+ |
61.3 |
6 |
8289259 (1), 2033038 (1), 10336857 (1), 15946682 (1) (see all 5) |
| nadh |
53.2 |
3 |
11316579 (1), 10193578 (1), 15946682 (1) |
| lactate |
26.6 |
9 |
17160884 (2), 8289259 (1), 8968745 (1), 16233312 (1) (see all 5) |
| peroxynitrite |
15.4 |
1 |
16045627 (1) |
Search CenterWatch for drugs/clinical trials and news about DLD / DLDH
|
Transcripts
for DLD gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DLD gene: NM_000108.3 Unigene Cluster for DLD: Dihydrolipoamide dehydrogenase Hs.131711 [show with all ESTs]Unigene Representative Sequence: NM_00010814 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000205402(uc010ljm.1 uc003vet.3 uc011kmg.2 uc011kmh.2 uc011kmi.2)
ENST00000485066 ENST00000415325 ENST00000417551 ENST00000440410 ENST00000437604
ENST00000453354 ENST00000450038 ENST00000451081 ENST00000460577 ENST00000494441
ENST00000478414 ENST00000489184 ENST00000537148
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLD (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLD
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DLD (NM_000108) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DLD | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLD |
Additional cDNA sequence: AB209703.1 AK225289.1 AK225301.1 AK294146.1 AK295080.1 AK297508.1 AK300077.1 AK310220.1 AK312346.1 BC018648.2 BC018696.2 J03490.1 J03620.1 18 DOTS entries: DT.218690 DT.97797315 DT.100845548 DT.75170598 DT.100845544 DT.100845543 DT.210154 DT.121075590 DT.121075600 DT.206518 DT.121075585 DT.95305202 DT.100758912 DT.121075584 DT.121075588 DT.121075591 DT.121075616 DT.95305240 24/409 AceView cDNA sequences (see all 409): CA390328 AW029390 BM966773 AA939188 AI090941 BP343644 CR625204 BP341041 AA418313 CB158933 BM464989 BE265772 BP341451 BM551734 CB136179 AV707522 CD516416 BM800726 BQ929216 AI129544 BM874612 AU120894 BX447795 BU191881
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for DLD (see all 8) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | - | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | | | - | | | | | | - | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for DLD
|
Expression
for DLD gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DLD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGGAGCTA
About this image
See DLD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DLD
SOURCE GeneReport for Unigene cluster: Hs.131711
SABiosciences Expression via Pathway-Focused PCR Arrays including DLD:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLD
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DLD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLD | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD |
Orthologs
for DLD gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for DLD gene from 10/45 species (see all 45) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DLD1 |
dihydrolipoamide dehydrogenase |
80.31(n)
89.57(a) |
|
417699 NM_001030727.1 NP_001025898.1 |
lizard
(Anolis carolinensis) |
Reptilia |
DLD6 |
-- |
86(a) |
1 ↔ 1 |
5(97771705-97793161) |
African clawed frog
(Xenopus laevis) |
Amphibia |
dld-prov2 |
dihydrolipoamide dehydrogenase (E3 component of pyruvate more |
78.55(n) |
|
BC056016.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.10512 |
Danio rerio mRNA similar to dihydrolipoamide dehydrogenase more |
77.32(n) |
|
BC044432.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG74301 , 3 |
dihydrolipoamide dehydrogenase3
CG74301 |
67(a)3
60.05(n)1
68.92(a)1 |
|
75A63
399881 NM_140760.21 NP_649017.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
LLC1.33
dld-11 |
dihydrolipoamide dehydrogenase3
Protein DLD-11 |
66(a)3
64.66(n)1
73.33(a)1 |
|
IV(14464583-14465767)3
1783871 NM_070352.41 NP_502753.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
LPD1(YFL018C)4
LPD11 |
Dihydrolipoamide dehydrogenase, the lipoamide dehydrogenase more4
Lpd1p1 |
60.55(n)1
58.75(a)1 |
|
6(103127-101628)4
8505271, 4 NP_116635.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
mtLPD11 |
dihydrolipoyl dehydrogenase 1 |
59.56(n)
59.56(a) |
|
841221 NM_179451.1 NP_849782.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.15062 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
73.83(n) |
|
NM_183836.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
lpd6sthA6 |
pyridine nucleotide transhydrogenase, soluble |
41(a)26(a) |
possible ortholog1 ↔ 1 |
Chromosome(127912-129336) Chromosome(4157413-4158813) |
ENSEMBL Gene Tree for DLD (if available)
TreeFam Gene Tree for DLD (if available) |
Paralogs
for DLD gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DLD gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DLD (107531415 - 107572175 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DLD
1 CNV: 48029
Human Gene Mutation Database (HGMD): DLD
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLD |
|
Disorders
/ Diseases
for DLD gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DLD for disorders About GeneDecksing
OMIM gene information: 238331
OMIM disorders: 248600 256000
UniProtKB/Swiss-Prot: DLDH_HUMAN, P09622
Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by mentaland physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chainamino acids are present in the urine, resulting from a block in oxidative decarboxylation
20/24  diseases for DLD (see all 24): About MalaCardsmaple syrup urine disease lipoamide dehydrogenase deficiency alpha-ketoglutarate dehydrogenase deficiency lactic acidosis
cutaneous anthrax primary biliary cirrhosis pearson syndrome friedreich ataxia
spinocerebellar ataxia leigh disease microcephaly ulcerative colitis
alzheimer's disease protein s deficiency hepatitis c ataxia
myocarditis hepatitis pneumonia schizophrenia
8 Novoseek disease relationships for DLD gene About this table
Genatlas disease: DLD lactate acidosis,congenital,with elevated branched chain aminoacids presenting as Leigh syndrome characterized bylactate acidosis bilaterally symmetrical necrotic lesions in the brainstem,basal ganglia,thalamus and spinalcord,occuring predominantly in infants
Genetic Association Database (GAD): DLD
Human Genome Epidemiology (HuGE) Navigator: DLD (4 documents)
Export disorders for DLD gene to outside databases
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Publications
for DLD gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for DLD gene, integrated from 9 sources (see all 153):
(articles sorted by number of sources associating them with DLD) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PubMed id 16442803)1, 2, 9 Brautigam C.A....Chuang D.T. (2006)
- How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PubMed id 16263718)1, 2, 9 Ciszak E.M....Patel M.S. (2006)
- Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (PubMed id 8506365)1, 2, 9 Liu T.-C.... Patel M.S. (1993)
- Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. (PubMed id 1332063)1, 2, 9 Johanning G.L.... Patel M.S. (1992)
- Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (PubMed id 9934985)1, 2, 9 Shaag A....Elpeleg O.N. (1999)
- The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. (PubMed id 8406489)1, 2, 9 Feigenbaum A.S. and Robinson B.H. (1993)
- Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. (PubMed id 15946682)1, 2, 9 Brautigam C.A....Chuang D.T. (2005)
- Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population. (PubMed id 15389771)1, 4 Brown A.M....Blass J.P. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes. (PubMed id 3278312)1, 2 Pons G.... Patel M.S. (1988)
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External Searches for DLD gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DLD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DLD gene
(According to HUGE)
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Specialized Databases showing DLD gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DLD | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLD |
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| Patent Information for DLD gene:
Search GeneIP for patents involving DLD
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DLD gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for DLD | | OriGene shRNA RFP for DLD | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLD | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLD | | | OriGene Protein Over-expression Lysate for DLD | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DLD | | OriGene 3'-UTR Clone for DLD | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLD | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLD | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DLD | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DLD | | OriGene Custom Protein Services for DLD | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DLD | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DLD | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLD | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLD |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLD |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLD |
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