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Aliases for DLSTP1 Gene

Aliases for DLSTP1 Gene

  • Dihydrolipoamide S-Succinyltransferase Pseudogene 1 2 3 5
  • Dihydrolipoamide S-Succinyltransferase Pseudogene (E2 Component Of 2-Oxo-Glutarate Complex) 2 3
  • Dihydrolipoamide S-Succinyltransferase (E2 Component Of 2-Oxo-Glutarate Complex) Pseudogene 3
  • DLSTP 3

External Ids for DLSTP1 Gene

Previous HGNC Symbols for DLSTP1 Gene


Previous GeneCards Identifiers for DLSTP1 Gene

  • GC01M076207

Summaries for DLSTP1 Gene

GeneCards Summary for DLSTP1 Gene

DLSTP1 (Dihydrolipoamide S-Succinyltransferase Pseudogene 1) is a Pseudogene. Diseases associated with DLSTP1 include Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Hydrocephalus, Nonsyndromic, Autosomal Recessive 2.

Additional gene information for DLSTP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLSTP1 Gene

Genomics for DLSTP1 Gene

GeneHancer (GH) Regulatory Elements for DLSTP1 Gene

Promoters and enhancers for DLSTP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J075722 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 10.6 +19.9 19901 6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ACADM SLC44A5 ENSG00000178193 RABGGTB SNORD45C SNORD45A MSH4 DLSTP1 PIR54256
GH01J075784 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.1 -42.9 -42931 7.7 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RABGGTB SNORD45C SNORD45B SNORD45A GC01P075800 GC01P075799 GC01P075797 MSH4 DLSTP1 ACADM
GH01J075671 Enhancer 0.9 ENCODE 10.2 +72.2 72169 1.8 ATF1 FOXA2 ARNT TCF12 CBX5 ARID2 FOS ATF7 ZNF592 MEF2D PIR63059 GC01P075675 ACADM DLSTP1 MSH4 LOC100421536 SLC44A5
GH01J074964 Enhancer 0.8 UCNEbase 11.1 +780.5 780498 0.3 ZBTB6 L3MBTL2 ZBTB21 NFIB ZNF398 ZNF491 OSR2 PRDM6 NFIC ZNF544 ENSG00000229943 TYW3 DLSTP1 GC01P074970
GH01J075796 Enhancer 0.8 ENCODE 10.1 -52.0 -52048 0.3 HNRNPUL1 PTBP1 FUS RB1 ZNF48 POLR2B E2F8 EGR1 ZFP91 CREM MSH4 DLSTP1 GC01M075828
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLSTP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DLSTP1 Gene

Genomic Locations for DLSTP1 Gene
3,012 bases
Minus strand
2,760 bases
Minus strand

Genomic View for DLSTP1 Gene

Genes around DLSTP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLSTP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLSTP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLSTP1 Gene

Proteins for DLSTP1 Gene

Post-translational modifications for DLSTP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DLSTP1 Gene

Domains & Families for DLSTP1 Gene

Suggested Antigen Peptide Sequences for DLSTP1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains and UniProtKB/Swiss-Prot for DLSTP1 Gene

Function for DLSTP1 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DLSTP1 Gene

Localization for DLSTP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for DLSTP1 Gene

Pathways & Interactions for DLSTP1 Gene

SuperPathways for DLSTP1 Gene

No Data Available

Interacting Proteins for DLSTP1 Gene

Gene Ontology (GO) - Biological Process for DLSTP1 Gene


No data available for Pathways by source and SIGNOR curated interactions for DLSTP1 Gene

Drugs & Compounds for DLSTP1 Gene

No Compound Related Data Available

Transcripts for DLSTP1 Gene

mRNA/cDNA for DLSTP1 Gene

(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLSTP1 Gene

No ASD Table

Relevant External Links for DLSTP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLSTP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLSTP1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from MOPED for DLSTP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DLSTP1 Gene:

genes like me logo Genes that share expression patterns with DLSTP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLSTP1 Gene

Orthologs for DLSTP1 Gene

Evolution for DLSTP1 Gene

Gene Tree for DLSTP1 (if available)
Gene Tree for DLSTP1 (if available)

No data available for Orthologs for DLSTP1 Gene

Paralogs for DLSTP1 Gene

No data available for Paralogs for DLSTP1 Gene

Variants for DLSTP1 Gene

Sequence variations from dbSNP and Humsavar for DLSTP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs149678400 uncertain-significance, likely-pathogenic, not specified, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,745,889(-) C/A/T upstream_transcript_variant
rs200724875 pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,745,823(-) G/A upstream_transcript_variant
rs2229249 conflicting-interpretations-of-pathogenicity, benign, Medium-chain acyl-coenzyme A dehydrogenase deficiency, not specified 75,745,884(-) A/G/T upstream_transcript_variant
rs370523609 likely-pathogenic, pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency, not provided 75,745,788(-) G/A upstream_transcript_variant
rs373715782 pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, not provided, Medium-chain acyl-coenzyme A dehydrogenase deficiency, not specified 75,745,822(-) C/T upstream_transcript_variant

Additional Variant Information for DLSTP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for DLSTP1 Gene

Disorders for DLSTP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DLSTP1 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DLSTP1

genes like me logo Genes that share disorders with DLSTP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLSTP1 Gene

Publications for DLSTP1 Gene

  1. Isolation, characterization, and mapping of gene encoding dihydrolipoyl succinyltransferase (E2k) of human alpha-ketoglutarate dehydrogenase complex. (PMID: 8009371) Ali G … Blass JP (Somatic cell and molecular genetics 1994) 2 3 58
  2. Isolation, characterization and structural organization of the gene and pseudogene for the dihydrolipoamide succinyltransferase component of the human 2-oxoglutarate dehydrogenase complex. (PMID: 8076640) Nakano K … Matuda S (European journal of biochemistry 1994) 2 3 58

Products for DLSTP1 Gene

Sources for DLSTP1 Gene

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