DLST (dihydrolipoamide S-succinyltransferase) - Rat Genome Database
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Gene: DLST (dihydrolipoamide S-succinyltransferase) Homo sapiens
Analyze
Symbol: DLST
Name: dihydrolipoamide S-succinyltransferase
RGD ID: 1351694
HGNC Page HGNC
Description: Exhibits dihydrolipoyllysine-residue succinyltransferase activity. Involved in histone succinylation and tricarboxylic acid cycle. Localizes to mitochondrion; nucleus; and oxoglutarate dehydrogenase complex. Implicated in Alzheimer's disease and paraganglioma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-oxoglutarate dehydrogenase complex component E2; dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex); dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex; Dihydrolipoyllysine-residue succinyltransferase; dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial; DLTS; E2K; KGD2; OGDC-E2; PGL7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DLSTP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1474,881,891 - 74,903,743 (+)EnsemblGRCh38hg38GRCh38
GRCh381474,881,913 - 74,903,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371475,348,594 - 75,370,450 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,418,372 - 74,440,199 (+)NCBINCBI36hg18NCBI36
Build 341474,418,371 - 74,440,196NCBI
Celera1455,386,967 - 55,408,821 (+)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1455,516,596 - 55,538,452 (+)NCBIHuRef
CHM1_11475,287,750 - 75,309,620 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1943690   PMID:2188967   PMID:2365294   PMID:3571202   PMID:3753002   PMID:8009371   PMID:8076640   PMID:8240324   PMID:8268217   PMID:8584231   PMID:8889548   PMID:8889549  
PMID:9405249   PMID:9727038   PMID:9894876   PMID:11436125   PMID:11445257   PMID:11825528   PMID:12477932   PMID:12805207   PMID:15038610   PMID:15146197   PMID:15466852   PMID:15489334  
PMID:16169070   PMID:16196087   PMID:16344560   PMID:17207965   PMID:17220478   PMID:18029348   PMID:18976975   PMID:19287380   PMID:19615732   PMID:19946888   PMID:20379614   PMID:20877624  
PMID:21630459   PMID:22235656   PMID:22632162   PMID:22939629   PMID:22952844   PMID:23144319   PMID:23376485   PMID:23475850   PMID:23874603   PMID:25437307   PMID:25544563   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26618866   PMID:26760575   PMID:26876595   PMID:27025967   PMID:27432908   PMID:27609421   PMID:28514442   PMID:28611094   PMID:29128334   PMID:29211711  
PMID:29229926   PMID:29395067   PMID:29449217   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29791485   PMID:30021884   PMID:30033366   PMID:30455355   PMID:30471866  
PMID:30737405   PMID:30771432   PMID:30833792   PMID:30890647   PMID:30929736   PMID:30948266   PMID:30997501   PMID:31067453   PMID:31076518   PMID:31180492   PMID:31405213   PMID:31536960  
PMID:31586073   PMID:31617661   PMID:31980649   PMID:32780723   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
DLST
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1474,881,891 - 74,903,743 (+)EnsemblGRCh38hg38GRCh38
GRCh381474,881,913 - 74,903,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371475,348,594 - 75,370,450 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361474,418,372 - 74,440,199 (+)NCBINCBI36hg18NCBI36
Build 341474,418,371 - 74,440,196NCBI
Celera1455,386,967 - 55,408,821 (+)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1455,516,596 - 55,538,452 (+)NCBIHuRef
CHM1_11475,287,750 - 75,309,620 (+)NCBICHM1_1
Dlst
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391285,157,597 - 85,180,865 (+)NCBIGRCm39mm39
GRCm381285,110,822 - 85,134,091 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1285,110,833 - 85,134,845 (+)EnsemblGRCm38mm10GRCm38
MGSCv371286,451,783 - 86,475,041 (+)NCBIGRCm37mm9NCBIm37
MGSCv361285,999,999 - 86,023,189 (+)NCBImm8
Celera1286,568,081 - 86,591,232 (+)NCBICelera
Cytogenetic Map12D1NCBI
Dlst
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.06108,936,534 - 108,961,322 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6108,936,664 - 108,959,803 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06116,595,654 - 116,620,427 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46109,156,751 - 109,180,537 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16109,160,220 - 109,183,992 (+)NCBI
Celera6102,581,378 - 102,605,253 (+)NCBICelera
Cytogenetic Map6q31NCBI
Dlst
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955523661,738 - 680,802 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955523660,413 - 680,878 (-)NCBIChiLan1.0ChiLan1.0
DLST
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11474,278,128 - 74,300,133 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1474,278,128 - 74,300,133 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01455,433,358 - 55,455,876 (+)NCBIMhudiblu_PPA_v0panPan3
DLST
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl848,002,211 - 48,024,999 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1848,003,730 - 48,025,001 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dlst
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364884,038,985 - 4,061,071 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLST
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl798,091,123 - 98,111,572 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1798,091,161 - 98,111,267 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27103,935,074 - 103,955,180 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DLST
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12452,098,270 - 52,121,560 (+)NCBI
Dlst
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473426,802,902 - 26,824,632 (-)NCBI

Position Markers
SHGC-37068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371475,352,731 - 75,352,831UniSTSGRCh37
Build 361474,422,484 - 74,422,584RGDNCBI36
Celera1455,391,104 - 55,391,204RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,520,733 - 55,520,833UniSTS
GeneMap99-G3 RH Map142766.0UniSTS
PMC162151P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,820 - 76,209,961UniSTSGRCh37
GRCh371475,359,595 - 75,360,098UniSTSGRCh37
Build 36175,982,408 - 75,982,549RGDNCBI36
Celera174,449,726 - 74,449,867RGD
Celera1455,397,968 - 55,398,471UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef174,339,756 - 74,339,897UniSTS
HuRef1455,527,597 - 55,528,100UniSTS
PMC162151P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371475,359,491 - 75,360,098UniSTSGRCh37
Build 361474,429,244 - 74,429,851RGDNCBI36
Celera1455,397,864 - 55,398,471RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,527,493 - 55,528,100UniSTS
PMC162151P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371475,359,491 - 75,360,094UniSTSGRCh37
Build 361474,429,244 - 74,429,847RGDNCBI36
Celera1455,397,864 - 55,398,467RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,527,493 - 55,528,096UniSTS
PMC162151P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,824 - 76,209,961UniSTSGRCh37
GRCh371475,359,595 - 75,360,094UniSTSGRCh37
Build 36175,982,412 - 75,982,549RGDNCBI36
Celera174,449,730 - 74,449,867RGD
Celera1455,397,968 - 55,398,467UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef174,339,760 - 74,339,897UniSTS
HuRef1455,527,597 - 55,528,096UniSTS
RH70222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371475,369,719 - 75,369,853UniSTSGRCh37
Build 361474,439,472 - 74,439,606RGDNCBI36
Celera1455,408,090 - 55,408,224RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,537,721 - 55,537,855UniSTS
GeneMap99-GB4 RH Map14198.76UniSTS
NCBI RH Map14835.7UniSTS
G10732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371475,361,012 - 75,361,230UniSTSGRCh37
Build 361474,430,765 - 74,430,983RGDNCBI36
Celera1455,399,385 - 55,399,603RGD
Cytogenetic Map14q24.3UniSTS
HuRef1455,529,014 - 55,529,232UniSTS
MARC_2710-2711:991933212:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,360 - 76,209,469UniSTSGRCh37
Build 36175,981,948 - 75,982,057RGDNCBI36
Celera174,449,266 - 74,449,375RGD
HuRef174,339,296 - 74,339,405UniSTS
RH17385  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24.3UniSTS
HuRef1455,537,987 - 55,538,154UniSTS
GeneMap99-GB4 RH Map14198.24UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4562
Count of miRNA genes:1091
Interacting mature miRNAs:1355
Transcripts:ENST00000238671, ENST00000334212, ENST00000334220, ENST00000550473, ENST00000554612, ENST00000554806, ENST00000555071, ENST00000555089, ENST00000555190, ENST00000555459, ENST00000555492, ENST00000555988, ENST00000556190, ENST00000556460, ENST00000556582, ENST00000557012
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 2929 1723 623 1907 464 4357 2176 3651 416 1459 1611 175 1 1204 2788 6 2
Low 62 3 1 44 1 21 83 3 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA101667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI087261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL538322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU133381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM682697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM928746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM929953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU623022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN422511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX163292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA995927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC338747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L37418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000238671   ⟹   ENSP00000238671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,916 - 74,902,452 (+)Ensembl
RefSeq Acc Id: ENST00000334220   ⟹   ENSP00000335304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,916 - 74,903,743 (+)Ensembl
RefSeq Acc Id: ENST00000550473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,889,069 - 74,889,669 (+)Ensembl
RefSeq Acc Id: ENST00000554612   ⟹   ENSP00000451670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,915 - 74,902,551 (+)Ensembl
RefSeq Acc Id: ENST00000554806   ⟹   ENSP00000451957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,956 - 74,898,486 (+)Ensembl
RefSeq Acc Id: ENST00000555071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,922 - 74,892,058 (+)Ensembl
RefSeq Acc Id: ENST00000555089   ⟹   ENSP00000452422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,941 - 74,901,190 (+)Ensembl
RefSeq Acc Id: ENST00000555190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,925 - 74,898,455 (+)Ensembl
RefSeq Acc Id: ENST00000555459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,925 - 74,891,350 (+)Ensembl
RefSeq Acc Id: ENST00000555492   ⟹   ENSP00000452417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,903 - 74,892,943 (+)Ensembl
RefSeq Acc Id: ENST00000555988   ⟹   ENSP00000451425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,885,586 - 74,894,409 (+)Ensembl
RefSeq Acc Id: ENST00000556190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,925 - 74,886,024 (+)Ensembl
RefSeq Acc Id: ENST00000556460   ⟹   ENSP00000451210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,891 - 74,892,947 (+)Ensembl
RefSeq Acc Id: ENST00000556582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,916 - 74,891,289 (+)Ensembl
RefSeq Acc Id: ENST00000557012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,914 - 74,889,733 (+)Ensembl
RefSeq Acc Id: ENST00000626051   ⟹   ENSP00000487251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,881,954 - 74,891,096 (+)Ensembl
RefSeq Acc Id: NM_001244883   ⟹   NP_001231812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,916 - 74,892,058 (+)NCBI
GRCh371475,348,594 - 75,370,450 (+)NCBI
HuRef1455,516,596 - 55,538,452 (+)NCBI
CHM1_11475,287,750 - 75,297,764 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001933   ⟹   NP_001924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,916 - 74,903,743 (+)NCBI
GRCh371475,348,594 - 75,370,450 (+)ENTREZGENE
Build 361474,418,372 - 74,440,199 (+)NCBI Archive
HuRef1455,516,596 - 55,538,452 (+)ENTREZGENE
CHM1_11475,287,750 - 75,309,620 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033814
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,916 - 74,903,743 (+)NCBI
GRCh371475,348,594 - 75,370,450 (+)ENTREZGENE
HuRef1455,516,596 - 55,538,452 (+)ENTREZGENE
CHM1_11475,287,750 - 75,309,620 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045209
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,916 - 74,903,743 (+)NCBI
GRCh371475,348,594 - 75,370,450 (+)NCBI
HuRef1455,516,596 - 55,538,452 (+)NCBI
CHM1_11475,287,750 - 75,309,620 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001750184
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,913 - 74,901,223 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001924   ⟸   NM_001933
- Peptide Label: isoform 1 precursor
- UniProtKB: P36957 (UniProtKB/Swiss-Prot),   A0A024R6C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231812   ⟸   NM_001244883
- Peptide Label: isoform 2 precursor
- UniProtKB: B7Z6J1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451425   ⟸   ENST00000555988
RefSeq Acc Id: ENSP00000452422   ⟸   ENST00000555089
RefSeq Acc Id: ENSP00000452417   ⟸   ENST00000555492
RefSeq Acc Id: ENSP00000451210   ⟸   ENST00000556460
RefSeq Acc Id: ENSP00000335304   ⟸   ENST00000334220
RefSeq Acc Id: ENSP00000487251   ⟸   ENST00000626051
RefSeq Acc Id: ENSP00000238671   ⟸   ENST00000238671
RefSeq Acc Id: ENSP00000451670   ⟸   ENST00000554612
RefSeq Acc Id: ENSP00000451957   ⟸   ENST00000554806
Protein Domains
2-oxoacid_dh   Lipoyl-binding

Promoters
RGD ID:6791408
Promoter ID:HG_KWN:19799
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000238671,   ENST00000334212,   NM_001933,   UC001XQS.1,   UC001XQT.1,   UC001XQU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361474,418,056 - 74,418,556 (+)MPROMDB
RGD ID:7228157
Promoter ID:EPDNEW_H19823
Type:initiation region
Name:DLST_1
Description:dihydrolipoamide S-succinyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,881,925 - 74,881,985EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.3(chr14:74040231-76368547) copy number loss not provided [RCV000767572] Chr14:74040231..76368547 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_001933.5(DLST):c.976-6C>T single nucleotide variant not provided [RCV000977832] Chr14:74900283 [GRCh38]
Chr14:75366986 [GRCh37]
Chr14:14q24.3
likely benign
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) single nucleotide variant PARAGANGLIOMAS 7 [RCV000785999] Chr14:74901127 [GRCh38]
Chr14:75367830 [GRCh37]
Chr14:14q24.3
pathogenic
NM_001933.5(DLST):c.783G>A (p.Glu261=) single nucleotide variant not provided [RCV001171681] Chr14:74898381 [GRCh38]
Chr14:75365084 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q24.3(chr14:75205276-75507538)x3 copy number gain not provided [RCV001006649] Chr14:75205276..75507538 [GRCh37]
Chr14:14q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2911 AgrOrtholog
COSMIC DLST COSMIC
Ensembl Genes ENSG00000119689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000238671 UniProtKB/TrEMBL
  ENSP00000335304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000451210 UniProtKB/TrEMBL
  ENSP00000451425 UniProtKB/TrEMBL
  ENSP00000451670 UniProtKB/TrEMBL
  ENSP00000451957 UniProtKB/TrEMBL
  ENSP00000452417 UniProtKB/TrEMBL
  ENSP00000452422 UniProtKB/TrEMBL
  ENSP00000487251 UniProtKB/TrEMBL
Ensembl Transcript ENST00000238671 UniProtKB/TrEMBL
  ENST00000334220 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000554612 UniProtKB/TrEMBL
  ENST00000554806 UniProtKB/TrEMBL
  ENST00000555071 ENTREZGENE
  ENST00000555089 UniProtKB/TrEMBL
  ENST00000555492 UniProtKB/TrEMBL
  ENST00000555988 UniProtKB/TrEMBL
  ENST00000556460 UniProtKB/TrEMBL
  ENST00000626051 UniProtKB/TrEMBL
Gene3D-CATH 3.30.559.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119689 GTEx
HGNC ID HGNC:2911 ENTREZGENE
Human Proteome Map DLST Human Proteome Map
InterPro 2-oxoA_DH_lipoyl-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2-oxoacid_DH_actylTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAT-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SucB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1743 ENTREZGENE
OMIM 126063 OMIM
  618475 OMIM
Pfam 2-oxoacid_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27367 PharmGKB
PROSITE BIOTINYL_LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs sucB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6C9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6J1 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAZ8_HUMAN UniProtKB/TrEMBL
  G3V3F0_HUMAN UniProtKB/TrEMBL
  G3V498_HUMAN UniProtKB/TrEMBL
  G3V5L9_HUMAN UniProtKB/TrEMBL
  G3V5M3_HUMAN UniProtKB/TrEMBL
  H0YJF9_HUMAN UniProtKB/TrEMBL
  ODO2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IBS5_HUMAN UniProtKB/TrEMBL
  Q86SW4_HUMAN UniProtKB/TrEMBL
  Q86TQ8_HUMAN UniProtKB/TrEMBL
  Q86TW7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z5W8 UniProtKB/Swiss-Prot
  E7ESY5 UniProtKB/Swiss-Prot
  Q7LDY7 UniProtKB/Swiss-Prot
  Q9BQ32 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 DLST  dihydrolipoamide S-succinyltransferase    dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)  Symbol and/or name change 5135510 APPROVED
2011-10-11 DLST  dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)  DLST  dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)  Symbol and/or name change 5135510 APPROVED